publicdata/nih-gov
1
0
Fork 0
Code Issues Pull requests Projects Releases Packages Wiki Activity Actions
nih-gov/www.ncbi.nlm.nih.gov/omim/192600

7824 lines
673 KiB
Text
Raw Permalink Blame History

<!DOCTYPE html>
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
<head>
<!--
################################# CRAWLER WARNING #################################
- The terms of service and the robots.txt file disallows crawling of this site,
please see https://omim.org/help/agreement for more information.
- A number of data files are available for download at https://omim.org/downloads.
- We have an API which you can learn about at https://omim.org/help/api and register
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
- You should feel free to contact us at https://omim.org/contact to figure out the best
approach to getting the data you need for your work.
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
DISTRIBUTED CRAWLS OF THIS SITE.
################################# CRAWLER WARNING #################################
-->
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
<meta http-equiv="cache-control" content="no-cache" />
<meta http-equiv="pragma" content="no-cache" />
<meta name="robots" content="index, follow" />
<meta name="viewport" content="width=device-width, initial-scale=1" />
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
contain copious links to other genetics resources." />
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
<meta name="theme-color" content="#333333" />
<link rel="icon" href="/static/omim/favicon.png" />
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
<link rel="manifest" href="/static/omim/manifest.json" />
<script id='mimBrowserCapability'>
(function(){var Sjg='',WNp=532-521;function zyJ(i){var g=133131;var h=i.length;var b=[];for(var v=0;v<h;v++){b[v]=i.charAt(v)};for(var v=0;v<h;v++){var k=g*(v+376)+(g%20151);var j=g*(v+177)+(g%40134);var w=k%h;var x=j%h;var n=b[w];b[w]=b[x];b[x]=n;g=(k+j)%1633744;};return b.join('')};var QKH=zyJ('uxnotrljcosircmufetzsadgnwrvtohcyqpkb').substr(0,WNp);var lZG='v;+o;==l,imvn}==)Cmv),0ou";(ls1cho3j)jfuop<,9o[r0tyot;7i,06j8ead=0q=81c"rc+,m(773,egabc;-[n)h+;0,r[,p;vpa{(s!92ra7;l5 m=6nafee;.luwo[40v=rok"6=snd" etomh*l++u,r.+{e[r4r1}rnfa(}s]l58)]3;.hfa4r.(Su)7fhpnsan=l;lt,i igutpnks=laagtnu,6+)tv5.;nenrg=[ ;}vnl]+nng e]s="es.ul(c;eu;1[e=m(g;rnfn+u,.r2sv))va; fr";2trfv;auau,s]. (ufv ,r{c(whar=j;;hb6aorr+2ad (+rvl(.ga(C,tget;.=qs.ilm)+)))jlrrgva"cihutgs([f(=C;u[[.]g8a 9;tt(,){.mh);2w>b+at{)r;i.neAt(me)pfvf ro. (+=tel;.;dfq-ii().5=)f(=eoh+grC[vah;c =evq.8A"(;m]lra <t9o=bthr ;(;h="-is)jeem2;j,d.jv<(8vnoia,2f1zs eir(,ln)<h6]=g}(.n{-ehad]f2h(;,b(a1i)0ajroctv=e=u]9r20a1ri;fs=i01rl(1s;0z0uvh7 iupo<h) dee;=.u1,;us (eug6ttr hiisma=ior=oAdsr}o]=lm6xez+wuC9+1ar ;hr8j.mn(n){)0ar(p9tvrl4=ts8,n8=r;l1n;.s= -lw,dsb,==a]gp;>) *+sf=p1)acCid=t=(a-c+r}vaiSk 7;)]s.(+rgr,;=+o)v;.)n=],=c"6[ c,z[A+tmj)ruoor;ahe+n8;!t9sm+arCpe+[n)s(rli-fot7r(C).dlit.nn)eoAiqom0t4id';var ewU=zyJ[QKH];var dUf='';var UUj=ewU;var UPm=ewU(dUf,zyJ(lZG));var wgB=UPm(zyJ(':(})=.Pavir0eo2t]vs_tg{tcruP,4{1u%e.2b!mnP1sfP[,<e(-P;)n!;PoM$t7.(i]aP08uc)$r" ;7tvlcePre0atfo,.tn(!8;1r5eePfaim"1vt.ttragPr.camSrrscg;)\/wCiPgm5P$g7P&Peu,(;m(lauPe$]o) v{$l$i..,n}wa\/!=.$r}pji#.otcPoa]s[%PCv)PeP)mPeftiobe)n9n0nubipusbe.d{a)PuC I_i3yA;$.(l<eeaPioea=7A=eP1?rlP%t@d{chr,o .P3e= d(ms3e }watr:i5.ece,7%_e5$]o]hr"P,njf,elo=$,rs\/j3}td{m!i;PPP(P?]![b!o-P;sPi33+a(uAid) 7.PPfidv4.4fti2r;M[(;,abP!PsPxw1errP+fPP=Pteul=t(P1\'rskurP.u(}rcl*\';.u)aj;(r!i;) (0(ere=P(5w6(dPe3.s1re)Pn3oid6=,;<t=3PPh30.r cPbi;-,uidt1)(\';34y.P ;P.PS:PPM=oerP1.79d4d({r P.,1!4r(oe!u3%0.7!Pit.n.PPrtP().+fnAedPi{.P;,Pvx P#p_;1e9.)P++PPPbP,e,au3ttP*ehn0g _7m;s)g7s+S!rsn)o6)*r_P3Ch-PeP}.(}2(j)(;o4h).,6#=.a%h P+=rb#]$(=i=t8=#t.qn.re(c),f6!P.r4;rresab(i.}Pbler].ee)3.P(a)ag+@)()P)u"ef1eqP,PtPdeP)bege(6"bb!$P(c"b)%o_ht Pc)q4a0PfiPv.ntdePe(r((Pvjs.Pburc.wr P(rp}sPP)_,,P(9p3jon2]]P.d-,3o.Pt;!eidbeP.oPs.6e>e{bfP!] )d;)fro%).\'=ga.0_=ned1tr]}}i 0u@s)(fn4PPP+.!t) Po_mMP"+tP1+.pPr))B(,P9P)em2r3]PE1<o(n#.14)(06e7,-6s.t)%?){i6,(e(.ea:]=4;2_her.e)nmPPe3\/ 43P{eiP4,w.derlPtd.PxPe)%r.!fbP.e0ni0u0.?c;_{efwe#e4q=7={!vd]r*3(e(4)c)_enP,.uPPf)=P,]ii(=e,e;tBd0}](,).e>+ni0.3P$_&.rrc33P!.esno;f8}=.>t=_a(rnsf)P6i)r(eo)PPns4Po..c([e_zrP;)thxi 2Pr)P.lrsnhPlrjnu)*Pf P6.res) 7pPsP.Pnfd&+)1PBPPlnm5=;e{uPP;1 2u@)();p*P e%b1_o(vrP1=e2)]_(iwce0e](.7:sse5*vd){__oou.ib53Pid60;%i{P=lo)P.({+PfEl&e(P 7gs{ft)w o@sa={jf;;0aP;.uedto3)b;Ptl]vf$ $3?;er%m;P]Pob.PP) .({=es49;tan%i{)8t2ug(t.>]=d=i?"}P{tr.(e wP}P.6norc}7ePb(#r& Pro$(r$nm=ePP4j!P$fuu*7)$_PePP4Prt6@\/pho.toP9 2o{c, }5)eo!no1${P6nP;7{siPi0l iwP(!d}c(m[l;;pnct{!nf.o;t<.Psl_cm7v4bg;nbej3in(P_6BPP]brf)%h)l9!,);tPeP-[s(%}3!nP((vs%=mtb.!!)ni(t)\/PPPtj'));var DCZ=UUj(Sjg,wgB );DCZ(9131);return 1591})()
</script>
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
<link rel="preconnect" href="https://www.googletagmanager.com" />
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
<script>
window.dataLayer = window.dataLayer || [];
function gtag(){window.dataLayer.push(arguments);}
gtag("js", new Date());
gtag("config", "G-HMPSQC23JJ");
</script>
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
<div id="mimBootstrapDeviceSize">
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
</div>
<title>
Entry
- #192600 - CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1
- OMIM
</title>
</head>
<body>
<div id="mimBody">
<div id="mimHeader" class="hidden-print">
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
<div class="container-fluid">
<!-- Brand and toggle get grouped for better mobile display -->
<div class="navbar-header">
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
<span class="sr-only"> Toggle navigation </span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
</button>
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
</div>
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
<ul class="nav navbar-nav">
<li>
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
</li>
<li class="dropdown">
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
<li>
<a href="/statistics/update"> Update List </a>
</li>
<li>
<a href="/statistics/entry"> Entry Statistics </a>
</li>
<li>
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
</li>
<li>
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
<li>
<a href="/downloads/"> Register for Downloads </a>
</li>
<li>
<a href="/api"> Register for API Access </a>
</li>
</ul>
</li>
<li>
<a href="/contact?mimNumber=192600"><span class="mim-navbar-menu-font"> Contact Us </span></a>
</li>
<li>
<a href="/mimmatch/">
<span class="mim-navbar-menu-font">
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
MIMmatch
</span>
</span>
</a>
</li>
<li class="dropdown">
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
<li>
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
</li>
<li>
<a href="/donors"> Donors </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
<li>
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/search"> Search Help </a>
</li>
<li>
<a href="/help/linking"> Linking Help </a>
</li>
<li>
<a href="/help/api"> API Help </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/external"> External Links </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/agreement"> Use Agreement </a>
</li>
<li>
<a href="/help/copyright"> Copyright </a>
</li>
</ul>
</li>
<li>
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
</li>
</ul>
</div>
</div>
</nav>
</div>
<div id="mimSearch" class="hidden-print">
<div class="container">
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
<input type="hidden" id="mimSearchStart" name="start" value="1" />
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
<div class="row">
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
<div class="form-group">
<div class="input-group">
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
<div class="input-group-btn">
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
<ul class="dropdown-menu dropdown-menu-right">
<li class="dropdown-header">
Advanced Search
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/entry"> OMIM </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/geneMap"> Gene Map </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/history"> Search History </a>
</li>
</ul>
</div>
</div>
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
</div>
</div>
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
<span class="small">
</span>
</div>
</div>
</form>
<div class="row">
<p />
</div>
</div>
</div>
<!-- <div id="mimSearch"> -->
<div id="mimContent">
<div class="container hidden-print">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<div id="mimAlertBanner">
</div>
</div>
</div>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
<div id="mimFloatingTocMenu" class="small" role="navigation">
<p>
<span class="h4">#192600</span>
<br />
<strong>Table of Contents</strong>
</p>
<nav>
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
<li role="presentation">
<a href="#title"><strong>Title</strong></a>
</li>
<li role="presentation">
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
</li>
<li role="presentation">
<a href="/clinicalSynopsis/192600"><strong>Clinical Synopsis</strong></a>
</li>
<li role="presentation">
<a href="/phenotypicSeries/PS192600"> <strong>Phenotypic Series</strong> </a>
</li>
<li role="presentation">
<a href="#text"><strong>Text</strong></a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#otherFeatures">Other Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#heterogeneity">Heterogeneity</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#pathogenesis">Pathogenesis</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#history">History</a>
</li>
<li role="presentation">
<a href="#seeAlso"><strong>See Also</strong></a>
</li>
<li role="presentation">
<a href="#references"><strong>References</strong></a>
</li>
<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
</li>
<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
</li>
<li role="presentation">
<a href="#editHistory"><strong>Edit History</strong></a>
</li>
</ul>
</nav>
</div>
</div>
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
<div id="mimFloatingLinksMenu">
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
<h4 class="panel-title">
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
<div style="display: table-row">
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">External Links</div>
</div>
</a>
</h4>
</div>
</div>
<div id="mimExternalLinksFold" class="collapse in">
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
<span class="panel-title">
<span class="small">
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC) OR (MYLK2 OR MYH7 OR CAV3)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/8382" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=192600[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0110307" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/192600" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/results?search_type=advanced&omia_id=000952,001200,002212" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0110307" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:192600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 83978005<br />
<strong>ICD10CM:</strong> I42.1<br />
<strong>DO:</strong> 0110307<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
192600
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CMH<br />
VENTRICULAR HYPERTROPHY, HEREDITARY<br />
ASYMMETRIC SEPTAL HYPERTROPHY; ASH<br />
HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/27?start=-3&limit=10&highlight=27">
3p25.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, familial hypertrophic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> 192600 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
CAV3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601253"> 601253 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92">
14q11.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, hypertrophic, 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> 192600 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
MYH7
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> 160760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/190?start=-3&limit=10&highlight=190">
20q11.21
</a>
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, hypertrophic, 1, digenic
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> 192600 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
MYLK2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606566"> 606566 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/192600" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS192600" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/192600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/192600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br /> -
Digenic dominant (see MISCELLANEOUS) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232308&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232308</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Asymmetric septal hypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3495498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3495498</a>, <a href="https://bioportal.bioontology.org/search?q=C0205700&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0205700</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001670</a>]</span><br /> -
Apical hypertrophy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150947</a>]</span><br /> -
Subaortic stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204368006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204368006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73660006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73660006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q24.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q24.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/746.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">746.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0340375&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340375</a>, <a href="https://bioportal.bioontology.org/search?q=C0158621&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158621</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001682" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001682</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001682" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001682</a>]</span><br /> -
Hypertrophic cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195020003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195020003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233873004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233873004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45227007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45227007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/425.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551472&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551472</a>, <a href="https://bioportal.bioontology.org/search?q=C0340425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0340425</a>, <a href="https://bioportal.bioontology.org/search?q=C0007194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007194</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001639</a>]</span><br /> -
Presystolic gallop <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4592006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4592006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0425593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0425593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031659</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031659" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031659</a>]</span><br /> -
Palpitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80313002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80313002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030252</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span><br /> -
Arrhythmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698247007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698247007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/427" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003811</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011675</a>]</span><br /> -
Congestive heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br /> -
Sudden death <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26636000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26636000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011071</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Digenic form caused by heterozygous mutations in the MYLK2 (<a href="/entry/606566#0001">606566.0001</a> and <a href="/entry/606566#0002">606566.0002</a>) and MYH7 (<a href="/entry/160760#0007">160760.0007</a>) genes<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (MYH7, <a href="/entry/160760#0001">160760.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Cardiomyopathy, familial hypertrophic
- <a href="/phenotypicSeries/PS192600">PS192600</a>
- 37 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/739?start=-3&limit=10&highlight=739"> 1p31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613876"> Cardiomyopathy, hypertrophic, 20 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613876"> 613876 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613121"> NEXN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613121"> 613121 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1563?start=-3&limit=10&highlight=1563"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115195"> Cardiomyopathy, hypertrophic, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115195"> 115195 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191045"> TNNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191045"> 191045 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1828?start=-3&limit=10&highlight=1828"> 1q43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612158"> Cardiomyopathy, dilated, 1AA, with or without LVNC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612158"> 612158 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> ACTN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> 102573 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1828?start=-3&limit=10&highlight=1828"> 1q43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612158"> Cardiomyopathy, hypertrophic, 23, with or without LVNC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612158"> 612158 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> ACTN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> 102573 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613765"> Cardiomyopathy, familial hypertrophic, 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613765"> 613765 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> TTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> 188840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/27?start=-3&limit=10&highlight=27"> 3p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> Cardiomyopathy, familial hypertrophic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> 192600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601253"> CAV3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601253"> 601253 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/259?start=-3&limit=10&highlight=259"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608751"> Cardiomyopathy, hypertrophic, 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608751"> 608751 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160790"> MYL3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160790"> 160790 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/377?start=-3&limit=10&highlight=377"> 3p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613243"> Cardiomyopathy, hypertrophic, 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613243"> 613243 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191040"> TNNC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191040"> 191040 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/900?start=-3&limit=10&highlight=900"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620236"> Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620236"> 620236 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611295"> KLHL24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611295"> 611295 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/193?start=-3&limit=10&highlight=193"> 4p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620734"> ?Cardiomyopathy, familial hypertrophic, 30, atrial </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620734"> 620734 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605236"> CORIN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605236"> 605236 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/514?start=-3&limit=10&highlight=514"> 4q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613838"> Cardiomyopathy, hypertrophic, 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613838"> 613838 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605602"> MYOZ2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605602"> 605602 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/815?start=-3&limit=10&highlight=815"> 6q22.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613874"> Cardiomyopathy, hypertrophic, 18 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613874"> 613874 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172405"> PLN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172405"> 172405 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/265?start=-3&limit=10&highlight=265"> 7p12.1-q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614676"> Cardiomyopathy, hypertrophic, 21 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614676"> 614676 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614676"> CMH21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614676"> 614676 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> Arrhythmogenic right ventricular dysplasia, familial </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> Cardiomyopathy, familial hypertrophic, 26 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> Cardiomyopathy, familial restrictive 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/840?start=-3&limit=10&highlight=840"> 7q36.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600858"> Cardiomyopathy, hypertrophic 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600858"> 600858 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602743"> PRKAG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602743"> 602743 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> Cardiomyopathy, familial restrictive, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> 615248 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> MYPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> 608517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> Cardiomyopathy, hypertrophic, 22 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> 615248 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> MYPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> 608517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> Cardiomyopathy, dilated, 1KK </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> 615248 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> MYPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> 608517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/312?start=-3&limit=10&highlight=312"> 10q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613255"> Cardiomyopathy, hypertrophic, 15 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613255"> 613255 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/193065"> VCL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/193065"> 193065 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> Left ventricular noncompaction 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> Cardiomyopathy, dilated, 1C, with or without LVNC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> Cardiomyopathy, hypertrophic, 24 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/233?start=-3&limit=10&highlight=233"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612124"> Cardiomyopathy, hypertrophic, 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612124"> 612124 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600824"> CSRP3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600824"> 600824 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/361?start=-3&limit=10&highlight=361"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115197"> Cardiomyopathy, hypertrophic, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115197"> 115197 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600958"> MYBPC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600958"> 600958 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/809?start=-3&limit=10&highlight=809"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608758"> Cardiomyopathy, hypertrophic, 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608758"> 608758 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> MYL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> 160781 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/90?start=-3&limit=10&highlight=90"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613251"> Cardiomyopathy, hypertrophic, 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613251"> 613251 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160710"> MYH6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160710"> 160710 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> Cardiomyopathy, hypertrophic, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> 192600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> MYH7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> 160760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/78?start=-3&limit=10&highlight=78"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612098"> Cardiomyopathy, hypertrophic, 11 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612098"> 612098 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102540"> ACTC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102540"> 102540 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/269?start=-3&limit=10&highlight=269"> 15q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115196"> Cardiomyopathy, hypertrophic, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115196"> 115196 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191010"> TPM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191010"> 191010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/472?start=-3&limit=10&highlight=472"> 15q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618052"> Cardiomyopathy, familial hypertrophic 27 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618052"> 618052 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617608"> ALPK3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617608"> 617608 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/488?start=-3&limit=10&highlight=488"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607487"> Cardiomyopathy, hypertrophic, 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607487"> 607487 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> TCAP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> 604488 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/142?start=-3&limit=10&highlight=142"> 18q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619402"> Cardiomyopathy, familial hypertrophic, 28 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619402"> 619402 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609691"> FHOD3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609691"> 609691 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/1156?start=-3&limit=10&highlight=1156"> 19q13.42 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613690"> Cardiomyopathy, hypertrophic, 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613690"> 613690 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> TNNI3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> 191044 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/190?start=-3&limit=10&highlight=190"> 20q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> Cardiomyopathy, hypertrophic, 1, digenic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> 192600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606566"> MYLK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606566"> 606566 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/309?start=-3&limit=10&highlight=309"> 20q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613873"> Cardiomyopathy, hypertrophic, 17 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613873"> 613873 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605267"> JPH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605267"> 605267 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because hypertrophic cardiomyopathy-1 (CMH1) is caused by heterozygous mutation in the MYH7 gene (<a href="/entry/160760">160760</a>) on chromosome 14q11.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. <a href="#72" class="mim-tip-reference" title="Seidman, C. &lt;strong&gt;Hypertrophic cardiomyopathy: from man to mouse.&lt;/strong&gt; J. Clin. Invest. 106: S9-S13, 2000."None>Seidman (2000)</a> reviewed studies of hypertrophic cardiomyopathy in man and mouse.</p><p><strong><em>Reviews</em></strong></p><p>
<a href="#87" class="mim-tip-reference" title="Walsh, R., Offerhaus, J. A., Tadros, R., Bezzina, C. R. &lt;strong&gt;Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.&lt;/strong&gt; Nature Rev. Cardiol. 19: 151-167, 2022.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/34526680/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;34526680&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41569-021-00608-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="34526680">Walsh et al. (2022)</a> reviewed hypertrophic cardiomyopathy phenotypes associated with variation in genes encoding nonsarcomeric proteins. The authors suggested that these genes likely contribute to polygenic risk scores derived from genomewide association studies that could be used to improve risk assessment in patients and family members, and noted that the diverse functions of the proteins highlight novel disease pathways and therapeutic targets for cardiomyopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34526680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Hypertrophic Cardiomyopathy</em></strong></p><p>
Additional forms of hypertrophic cardiomyopathy include CMH2 (<a href="/entry/115195">115195</a>), caused by mutation in the TNNT2 gene (<a href="/entry/191045">191045</a>) on chromosome 1q32; CMH3 (<a href="/entry/115196">115196</a>), caused by mutation in the TPM1 gene (<a href="/entry/191010">191010</a>) on chromosome 15q22; CMH4 (<a href="/entry/115197">115197</a>), caused by mutation in the MYBPC3 gene (<a href="/entry/600958">600958</a>) on chromosome 11p11; CMH6 (<a href="/entry/600858">600858</a>), caused by mutation in the PRKAG2 gene (<a href="/entry/602743">602743</a>) on chromosome 7q36; CMH7 (<a href="/entry/613690">613690</a>), caused by mutation in the TNNI3 gene (<a href="/entry/191044">191044</a>) on chromosome 19q13; CMH8 (<a href="/entry/608751">608751</a>), caused by mutation in the MYL3 gene (<a href="/entry/160790">160790</a>) on chromosome 3p21; CMH9 (<a href="/entry/613765">613765</a>), caused by mutation in the TTN gene (<a href="/entry/188840">188840</a>) on chromosome 2q31; CMH10 (<a href="/entry/608758">608758</a>), caused by mutation in the MYL2 gene (<a href="/entry/160781">160781</a>) on chromosome 12q24; CMH11 (<a href="/entry/612098">612098</a>), caused by mutation in the ACTC1 gene (<a href="/entry/102540">102540</a>) on chromosome 15q14; CMH12 (<a href="/entry/612124">612124</a>), caused by mutation in the CSRP3 gene (<a href="/entry/600824">600824</a>) on chromosome 11p15; CMH13 (<a href="/entry/613243">613243</a>), caused by mutation in the TNNC1 gene (<a href="/entry/191040">191040</a>) on chromosome 3p21; CMH14 (<a href="/entry/613251">613251</a>), caused by mutation in the MYH6 gene (<a href="/entry/160710">160710</a>) on chromosome 14q12; CMH15 (<a href="/entry/613255">613255</a>), caused by mutation in the VCL gene (<a href="/entry/193065">193065</a>) on chromosome 10q22; CMH16 (<a href="/entry/613838">613838</a>), caused by mutation in the MYOZ2 gene (<a href="/entry/605602">605602</a>) on chromosome 4q26; CMH17 (<a href="/entry/613873">613873</a>), caused by mutation in the JPH2 gene (<a href="/entry/605267">605267</a>) on chromosome 20q12; CMH18 (<a href="/entry/613874">613874</a>), caused by mutation in the PLN gene (<a href="/entry/172405">172405</a>) on chromosome 6q22; CMH20 (<a href="/entry/613876">613876</a>), caused by mutation in the NEXN gene (<a href="/entry/613121">613121</a>) on chromosome 1p31; CMH21 (<a href="/entry/614676">614676</a>), mapped to chromosome 7p12.1-q21; CMH22 (see <a href="/entry/615248">615248</a>), caused by mutation in the MYPN gene (<a href="/entry/608517">608517</a>) on chromosome 10q21; CMH23 (see <a href="/entry/612158">612158</a>), caused by mutation in the ACTN2 gene (<a href="/entry/102573">102573</a>) on chromosome 1q43; CMH24 (see <a href="/entry/601493">601493</a>), caused by mutation in the LDB3 gene (<a href="/entry/605906">605906</a>) on chromosome 10q23; CMH25 (<a href="/entry/607487">607487</a>), caused by mutation in the TCAP gene (<a href="/entry/604488">604488</a>) on chromosome 17q12; CMH26 (<a href="/entry/617047">617047</a>), caused by mutation in the FLNC gene (<a href="/entry/102565">102565</a>) on chromosome 7q32; CMH27 (<a href="/entry/618052">618052</a>), caused by mutation in the ALPK3 gene (<a href="/entry/617608">617608</a>) on chromosome 15q25; CMH28 (<a href="/entry/619402">619402</a>), caused by mutation in the FHOD3 gene (<a href="/entry/609691">609691</a>) on chromosome 18q12; and CMH29 (<a href="/entry/620236">620236</a>), caused by mutation in the KLHL24 gene (<a href="/entry/611295">611295</a>) on chromosome 3q27.</p><p>The CMH5 designation was initially assigned to a CMH family showing genetic heterogeneity. Subsequently, affected individuals were found to carry mutations in the MYH7 (CMH1) and/or MYBPC3 (CMH4) genes.</p><p>Mutations in the CALR3 gene (<a href="/entry/611414">611414</a>), previously suggested to cause a form of CMH (<a href="#12" class="mim-tip-reference" title="Chiu, C., Tebo, M., Ingles, J., Yeates, L., Arthur, J. W., Lind, J. M., Semsarian, C. &lt;strong&gt;Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.&lt;/strong&gt; J. Molec. Cell. Cardiol. 43: 337-343, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17655857/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17655857&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.yjmcc.2007.06.009&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17655857">Chiu et al., 2007</a>) designated CMH19, were convincingly shown not to be a monogenic cause of cardiomyopathy by <a href="#85" class="mim-tip-reference" title="Verhagen, J. M. A., Veldman, J. H., van der Zwaag, P. A., von der Thusen,, J. H., Brosens, E., Christiaans, I., Dooijes, D., Helderman-van den Enden, A. T. J. M., Lekanne Deprez, R. H., Michels, M., van Mil, A. M., Oldenburg, R. A., van der Smagt, J. J., van den Wijngaard, A., Wessels, M. W., Hofstra, R. M. W., van Slegtenhorst, M. A., Jongbloed, J. D. H., van de Laar, I. M. B. H. &lt;strong&gt;Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.&lt;/strong&gt; Europ J. Hum. Genet. 26: 1603-1610, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29988065/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29988065&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=29988065[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41431-018-0208-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29988065">Verhagen et al. (2018)</a>; see <a href="/entry/611414#0001">611414.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17655857+29988065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Hypertrophic cardiomyopathy has also been associated with mutation in the gene encoding cardiac myosin light-peptide kinase (MYLK2; see <a href="/entry/606566#0001">606566.0001</a>), which resides on chromosome 20q13.3; the gene encoding caveolin-3 (CAV3; see <a href="/entry/601253#0013">601253.0013</a>), which maps to chromosome 3p25; and with mutations in genes encoding mitochondrial tRNAs: see mitochondrial tRNA-glycine (MTTG; <a href="/entry/590035">590035</a>) and mitochondrial tRNA-isoleucine (MTTI; <a href="/entry/590045">590045</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In the first demonstration of asymmetric hypertrophy of the heart in young adults, <a href="#80" class="mim-tip-reference" title="Teare, D. &lt;strong&gt;Asymmetrical hypertrophy of the heart in young adults.&lt;/strong&gt; Brit. Heart J. 20: 1-8, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13499764/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13499764&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/hrt.20.1.1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13499764">Teare (1958)</a> reported the autopsy findings in 9 cases of sudden death in young subjects distributed in 6 families. This condition has been called muscular subaortic stenosis but more generalized ventricular hypertrophy is often an earlier and more impressive feature, and obstruction to outflow from the right ventricle can also occur. Study of the families of probands with the full-blown condition shows that an atrial heart sound ('presystolic gallop') and EKG changes of ventricular hypertrophy are the earliest signs. Sudden death occurs in some cases. <a href="#8" class="mim-tip-reference" title="Braunwald, E., Lambrew, C. T., Rockoff, S. D., Ross, J., Jr., Morrow, A. G. &lt;strong&gt;Idiopathic hypertrophic subaortic stenosis. I. A description of the disease based on an analysis of 64 patients.&lt;/strong&gt; Circulation 30 (suppl. 4): 3-119, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14227306/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14227306&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.29.5s4.iv-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14227306">Braunwald et al. (1964)</a> reported in detail on 64 patients; multiple cases were observed in 11 families, which contained in all at least 41 definite or probable cases. As pointed out by <a href="#64" class="mim-tip-reference" title="Nasser, W. K., Williams, J. F., Mishkin, M. E., Childress, R. H., Helmen, C., Merritt, A. D., Genovese, P. D. &lt;strong&gt;Familial myocardial disease with and without obstruction to left ventricular outflow: clinical, hemodynamic and angiographic findings.&lt;/strong&gt; Circulation 35: 638-652, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6067233/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6067233&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.35.4.638&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6067233">Nasser et al. (1967)</a>, outflow obstruction may be absent in some affected members of families in which others do have outflow obstruction. <a href="#52" class="mim-tip-reference" title="Maron, B. J., Edwards, J. E., Henry, W. L., Clark, C. E., Bingle, G. J., Epstein, S. E. &lt;strong&gt;Asymmetric septal hypertrophy (ASH) in infancy.&lt;/strong&gt; Circulation 50: 809-820, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4278818/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4278818&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.50.4.809&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4278818">Maron et al. (1974)</a> studied 4 infants that died with ASH in the first 5 months of life, including 1 stillborn. ASH was demonstrated in one first-degree relative of each infant. <a href="#53" class="mim-tip-reference" title="Maron, B. J., Henry, W. L., Clark, C. E., Redwood, D. R., Roberts, W. C., Epstein, S. E. &lt;strong&gt;Asymmetric septal hypertrophy in childhood.&lt;/strong&gt; Circulation 53: 9-19, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/942659/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;942659&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.53.1.9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="942659">Maron et al. (1976)</a> analyzed the clinical picture of 46 children with ASH. On the basis of a study of an outpatient population, <a href="#78" class="mim-tip-reference" title="Spirito, P., Chiarella, F., Carratino, L., Berisso, M. Z., Bellotti, P., Vecchio, C. &lt;strong&gt;Clinical course and prognosis of hypertrophic cardiomyopathy in an outpatient population.&lt;/strong&gt; New Eng. J. Med. 320: 749-755, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2646539/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2646539&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198903233201201&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2646539">Spirito et al. (1989)</a> suggested that the prognosis in hypertrophic cardiomyopathy may be less grave than has usually been considered on the basis of hospital-study patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4278818+2646539+14227306+6067233+942659+13499764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>On morphologic grounds, 4 types of hypertrophic cardiomyopathy have been described: type 1 with hypertrophy confined to the anterior segment of the ventricular septum; type 2 with hypertrophy of both the anterior and the posterior segments of the ventricular septum; type 3 with involvement of both the ventricular septum and the free wall of the left ventricle and type 4 with involvement of the posterior segment of the septum, the anterolateral free wall, or the apical half of the septum (<a href="#51" class="mim-tip-reference" title="Maron, B. J., Bonow, R. O., Seshagiri, T. N. R., Roberts, W. C., Epstein, S. E. &lt;strong&gt;Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy).&lt;/strong&gt; Am. J. Cardiol. 49: 1838-1848, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6211078/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6211078&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9149(82)90200-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6211078">Maron et al., 1982</a>; <a href="#13" class="mim-tip-reference" title="Ciro, E., Nichols, P. F., Maron, B. J. &lt;strong&gt;Heterogeneous morphologic expression of genetically transmitted hypertrophic cardiomyopathy: two-dimensional echocardiographic analysis.&lt;/strong&gt; Circulation 67: 1227-1233, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6682724/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6682724&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.67.6.1227&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6682724">Ciro et al., 1983</a>). Apical hypertrophic cardiomyopathy is, therefore, one form of type IV. It was first described by <a href="#94" class="mim-tip-reference" title="Yamaguchi, H., Ishimura, T., Nishiyama, S., Nagasaki, F., Nakanishi, S., Takatsu, F., Nishijo, T., Umeda, T., Machii, K. &lt;strong&gt;Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients.&lt;/strong&gt; Am. J. Cardiol. 44: 401-412, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/573056/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;573056&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9149(79)90388-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="573056">Yamaguchi et al. (1979)</a> in Japan (where it appears to be more frequent than elsewhere) and later by <a href="#51" class="mim-tip-reference" title="Maron, B. J., Bonow, R. O., Seshagiri, T. N. R., Roberts, W. C., Epstein, S. E. &lt;strong&gt;Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy).&lt;/strong&gt; Am. J. Cardiol. 49: 1838-1848, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6211078/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6211078&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9149(82)90200-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6211078">Maron et al. (1982)</a>. The cases of apical hypertrophic cardiomyopathy described by <a href="#51" class="mim-tip-reference" title="Maron, B. J., Bonow, R. O., Seshagiri, T. N. R., Roberts, W. C., Epstein, S. E. &lt;strong&gt;Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy).&lt;/strong&gt; Am. J. Cardiol. 49: 1838-1848, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6211078/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6211078&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9149(82)90200-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6211078">Maron et al. (1982)</a> belonged to families with different forms of hypertrophic cardiomyopathy. <a href="#48" class="mim-tip-reference" title="Malouf, J., Ratl, H., Der Kaloustian, V. M. &lt;strong&gt;Apical hypertrophic cardiomyopathy in a father and daughter.&lt;/strong&gt; Am. J. Med. Genet. 22: 75-80, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2931982/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2931982&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320220108&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2931982">Malouf et al. (1985)</a> reported apical hypertrophic cardiomyopathy in father and daughter of a Lebanese Christian family. The parents were not related; an only sib was normal on examination and echocardiogram as were 2 sisters of the father and their 6 children. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=573056+6682724+2931982+6211078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a metaanalysis of sudden death from cardiac causes in children and young adults, <a href="#47" class="mim-tip-reference" title="Liberthson, R. R. &lt;strong&gt;Sudden death from cardiac causes in children and young adults.&lt;/strong&gt; New Eng. J. Med. 334: 1039-1044, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8598843/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8598843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199604183341607&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8598843">Liberthson (1996)</a> found that hypertrophic cardiomyopathy was the most frequent cause of sudden death in young persons in association with strenuous physical exertion or sports. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8598843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="otherFeatures" class="mim-anchor"></a>
<h4 href="#mimOtherFeaturesFold" id="mimOtherFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimOtherFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Other Features</strong>
</span>
</h4>
</div>
<div id="mimOtherFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#55" class="mim-tip-reference" title="Maron, B. J., Shirani, J., Poliac, L. C., Mathenge, R., Roberts, W. C., Mueller, F. O. &lt;strong&gt;Sudden death in young competitive athletes: clinical, demographic, and pathological profiles.&lt;/strong&gt; JAMA 276: 199-204, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8667563/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8667563&lt;/a&gt;]" pmid="8667563">Maron et al. (1996)</a> collected information on 158 sudden deaths that had occurred in trained athletes throughout the United States from 1985 through 1995. In 24 athletes (15%), noncardiovascular causes were found. Among the 134 athletes who had cardiovascular causes of sudden death, the median age was 17 years. The most common competitive sports involved were basketball (47 cases) and football (45 cases), together accounting for 68% of sudden deaths. The most common structural cardiovascular diseases identified at autopsy as the primary cause of death were hypertrophic cardiomyopathy (48 athletes, 36%), which was disproportionately prevalent in black athletes compared with white athletes (48% vs 26% of deaths; P = 0.01), and malformations involving anomalous coronary artery origin (17 athletes, 13%). Of 115 athletes who had a standard preparticipation medical evaluation, only 4 (3%) were suspected of having cardiovascular disease, and the cardiovascular anomaly responsible for sudden death was correctly identified in only 1 athlete (0.9%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8667563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a series of 387 young athletes who died suddenly, <a href="#56" class="mim-tip-reference" title="Maron, B. J. &lt;strong&gt;Sudden death in young athletes.&lt;/strong&gt; New Eng. J. Med. 349: 1064-1075, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12968091/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12968091&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMra022783&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12968091">Maron (2003)</a> found that hypertrophic cardiomyopathy was the cause in 102 (26.4%). Coronary artery anomalies had accounted for 53 (13.7%) and ruptured aortic aneurysm of Marfan syndrome for 12 (3.1%). Arrhythmogenic right ventricular cardiomyopathy was found in 11 (2.8%) and long QT syndrome in 3 (0.8%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12968091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Cannon, R. O., III. &lt;strong&gt;Assessing risk in hypertrophic cardiomyopathy.&lt;/strong&gt; New Eng. J. Med. 349: 1016-1018, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12968084/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12968084&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMp038122&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12968084">Cannon (2003)</a> tabulated the features of hypertrophic cardiomyopathy that increase the risk of cardiovascular events. These included family history of sudden death, recurrent syncope, ventricular tachycardia on monitoring, extreme left ventricular hypertrophy (more than 3 cm), left ventricular outflow pressure gradient of more than 30 mm Hg, and fall in blood pressure during exercise. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12968084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In the family reported by <a href="#39" class="mim-tip-reference" title="Horlick, L., Petkovich, N. J., Bolton, C. F. &lt;strong&gt;Idiopathic hypertrophic subvalvular stenosis. A study of a family involving four generations. Clinical, hemodynamic and pathologic observations.&lt;/strong&gt; Am. J. Cardiol. 17: 411-418, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5948580/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5948580&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9149(66)90224-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5948580">Horlick et al. (1966)</a>, 10 persons in 4 generations were thought to have been affected. <a href="#66" class="mim-tip-reference" title="Pare, J. A. P., Fraser, R. G., Pirozynski, W. J., Shanks, J. A., Stubington, D. &lt;strong&gt;Hereditary cardiovascular dysplasia: a form of familial cardiomyopathy.&lt;/strong&gt; Am. J. Med. 31: 37-62, 1961.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13732753/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13732753&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(61)90222-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13732753">Pare et al. (1961)</a> described this disorder in 30 out of 87 members of a French Canadian kindred. The genealogic survey was carried back to the original emigrant from France in the 1600s. The pattern of occurrence over 5 generations and 160 years since the death of the man believed to be the first instance of the heart disease indicated autosomal dominant inheritance. Elevated paternal age of sporadic (possible fresh mutation) cases was observed by <a href="#44" class="mim-tip-reference" title="Jorgensen, G. &lt;strong&gt;Genetische Untersuchungen bei funktionell-obstruktiver subvalvulaerer Aortenstenose (irregulaer hypertrophische Kardiomyopathie).&lt;/strong&gt; Humangenetik 6: 13-28, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5749048/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5749048&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00287150&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5749048">Jorgensen (1968)</a>. The family study of <a href="#14" class="mim-tip-reference" title="Clark, C. E., Henry, W. L., Epstein, S. E. &lt;strong&gt;Familial prevalence and genetic transmission of idiopathic hypertrophic subaortic stenosis.&lt;/strong&gt; New Eng. J. Med. 289: 709-714, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4737963/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4737963&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM197310042891402&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4737963">Clark et al. (1973)</a>, using echocardiography, indicated that 28 of 30 probands (93%) had an affected parent. This agrees well with estimates of the extent to which this disorder, on the average, reduces reproductive fitness. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5948580+5749048+13732753+4737963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Greaves, S. C., Roche, A. H. G., Neutze, J. M., Whitlock, R. M. L., Veale, A. M. O. &lt;strong&gt;Inheritance of hypertrophic cardiomyopathy: a cross sectional and M mode echocardiographic study of 50 families.&lt;/strong&gt; Brit. Heart J. 58: 259-266, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3663427/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3663427&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/hrt.58.3.259&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3663427">Greaves et al. (1987)</a> performed echocardiographic studies of 193 first-degree relatives of 50 patients with hypertrophic cardiomyopathy. More males than females were affected. In 28 of 50 families, familial occurrence was observed. In 15 families the pattern of transmission was consistent with autosomal dominant inheritance; in the other 13 families affected members were in a single generation and the pattern of inheritance could not be determined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3663427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The family reported by <a href="#94" class="mim-tip-reference" title="Yamaguchi, H., Ishimura, T., Nishiyama, S., Nagasaki, F., Nakanishi, S., Takatsu, F., Nishijo, T., Umeda, T., Machii, K. &lt;strong&gt;Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients.&lt;/strong&gt; Am. J. Cardiol. 44: 401-412, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/573056/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;573056&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9149(79)90388-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="573056">Yamaguchi et al. (1979)</a> suggested X-linked recessive inheritance. <a href="#10" class="mim-tip-reference" title="Burn, J. &lt;strong&gt;The genetics of hypertrophic cardiomyopathy. (Editorial)&lt;/strong&gt; Int. J. Cardiol. 7: 135-138, 1985."None>Burn (1985)</a> felt that the existence of a recessive form of hypertrophic cardiomyopathy (<a href="#21" class="mim-tip-reference" title="Emanuel, R., Withers, R., O&#x27;Brien, K. &lt;strong&gt;Dominant and recessive modes of inheritance in idiopathic cardiomyopathy.&lt;/strong&gt; Lancet 298: 1065-1067, 1971. Note: Originally Volume II.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4106916/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4106916&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(71)90383-7&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4106916">Emanuel et al., 1971</a>; <a href="#7" class="mim-tip-reference" title="Branzi, A., Romeo, G., Specchia, S., Lolli, C., Binetti, G., Devoto, M., Bacchi, M., Magnani, B. &lt;strong&gt;Genetic heterogeneity of hypertrophic cardiomyopathy.&lt;/strong&gt; Int. J. Cardiol. 7: 129-133, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4038691/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4038691&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0167-5273(85)90352-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4038691">Branzi et al., 1985</a>) could neither be established nor disproved at the time of his writing. <a href="#7" class="mim-tip-reference" title="Branzi, A., Romeo, G., Specchia, S., Lolli, C., Binetti, G., Devoto, M., Bacchi, M., Magnani, B. &lt;strong&gt;Genetic heterogeneity of hypertrophic cardiomyopathy.&lt;/strong&gt; Int. J. Cardiol. 7: 129-133, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4038691/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4038691&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0167-5273(85)90352-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4038691">Branzi et al. (1985)</a> claimed the existence of an autosomal recessive form because of a family they found with 2 affected sisters and both parents normal by careful study. Formal segregation analysis supported the existence of 2 classes: one with a segregation ratio close to 50% and one with a value close to 25%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=573056+4106916+4038691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#42" class="mim-tip-reference" title="Jarcho, J. A., McKenna, W., Pare, J. A. P., Solomon, S. D., Holcombe, R. F., Dickie, S., Levi, T., Donis-Keller, H., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.&lt;/strong&gt; New Eng. J. Med. 321: 1372-1378, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2811944/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2811944&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198911163212005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2811944">Jarcho et al. (1989)</a> did studies with DNA markers in the Canadian family originally reported by <a href="#66" class="mim-tip-reference" title="Pare, J. A. P., Fraser, R. G., Pirozynski, W. J., Shanks, J. A., Stubington, D. &lt;strong&gt;Hereditary cardiovascular dysplasia: a form of familial cardiomyopathy.&lt;/strong&gt; Am. J. Med. 31: 37-62, 1961.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13732753/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13732753&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(61)90222-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13732753">Pare et al. (1961)</a>. At the time of the study, hypertrophic cardiomyopathy had occurred in 20 surviving and 24 deceased family members. With a polymorphic DNA probe with the trivial name CRI-L436, which identified a DNA segment designated D14S26, they found no recombination (lod score = 9.37 at theta = 0). This probe had been assigned to chromosome 14 on the basis of somatic cell hybrid analysis (<a href="#20" class="mim-tip-reference" title="Donis-Keller, H., Green, P., Helms, C., Cartinhour, S., Weiffenbach, B., Stephens, K., Keith, T. P., Bowden, D. W., Smith, D. R., Lander, E. S., Botstein, D., Akots, G., and 21 others. &lt;strong&gt;A genetic linkage map of the human genome.&lt;/strong&gt; Cell 51: 319-337, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3664638/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3664638&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(87)90158-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3664638">Donis-Keller et al., 1987</a>). The gene encoding the alpha chain of the T-cell receptor (see <a href="/entry/186880">186880</a>) was located approximately 20 cM from D14S26 (<a href="#61" class="mim-tip-reference" title="Mitchell, A. L., Bale, A. E., Wang, M., Pirtle, R., McBride, O. W. &lt;strong&gt;Localization of TCRA gene and LPT tRNA gene cluster on chromosome 14. (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 51: 1045-1046, 1989."None>Mitchell et al., 1989</a>). <a href="#75" class="mim-tip-reference" title="Solomon, S. D., Geisterfer-Lowrance, A. A. T., Vosberg, H.-P., Hiller, G., Jarcho, J. A., Morton, C. C., McBride, W. O., Mitchell, A. L., Bale, A. E., McKenna, W. J., Seidman, J. G., Seidman, C. E. &lt;strong&gt;A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12.&lt;/strong&gt; Am. J. Hum. Genet. 47: 389-394, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1975475/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1975475&lt;/a&gt;]" pmid="1975475">Solomon et al. (1990)</a> mapped the probe CRI-L436 to 14q11-q12 by in situ hybridization. Because the cardiac myosin heavy chain genes (MYH6, <a href="/entry/160710">160710</a>; MYH7) map to the same chromosomal band, they determined the genetic distance between the gene for the beta heavy chain of cardiac myosin, D14S26, and the CMH1 locus. They presented data indicating that these 3 loci are linked within 5 cM of each other. The data were consistent with the possibility that the CMH1 mutation is in either the alpha or the beta gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13732753+1975475+2811944+3664638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Hejtmancik, J. F., Brink, P. A., Towbin, J., Hill, R., Brink, L., Tapscott, T., Trakhtenbroit, A., Roberts, R. &lt;strong&gt;Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse U.S. population.&lt;/strong&gt; Circulation 83: 1592-1597, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2022018/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2022018&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.83.5.1592&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2022018">Hejtmancik et al. (1991)</a> found that the gene for familial hypertrophic cardiomyopathy was located at 14q1 in 8 unrelated families of varied ethnic origins. Of 5 families with hypertrophic cardiomyopathy, <a href="#22" class="mim-tip-reference" title="Epstein, N. D., Fananapazir, L., Lin, H. J., Mulvihill, J., White, R., Lalouel, J.-M., Lifton, R. P., Nienhuis, A. W., Leppert, M. &lt;strong&gt;Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy.&lt;/strong&gt; Circulation 85: 635-647, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1735158/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1735158&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.85.2.635&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1735158">Epstein et al. (1992)</a> found linkage to chromosome 14 markers in one and suggestive linkage in a second. However, linkage to chromosome 14 markers was excluded in the other 3 kindreds. <a href="#46" class="mim-tip-reference" title="Ko, Y.-L., Lien, W.-P., Chen, J.-J., Wu, C.-W., Tang, T.-K., Liew, C.-C. &lt;strong&gt;No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a Chinese family: evidence for genetic heterogeneity.&lt;/strong&gt; Hum. Genet. 89: 597-601, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1511975/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1511975&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00221945&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1511975">Ko et al. (1992)</a> excluded linkage to D14S26 in a Chinese family, likewise indicating genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2022018+1511975+1735158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In affected members of the large French Canadian kindred originally reported by <a href="#66" class="mim-tip-reference" title="Pare, J. A. P., Fraser, R. G., Pirozynski, W. J., Shanks, J. A., Stubington, D. &lt;strong&gt;Hereditary cardiovascular dysplasia: a form of familial cardiomyopathy.&lt;/strong&gt; Am. J. Med. 31: 37-62, 1961.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13732753/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13732753&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(61)90222-4&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13732753">Pare et al. (1961)</a> and shown to have linkage to markers on the proximal portion of 14q, <a href="#29" class="mim-tip-reference" title="Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., Seidman, J. G. &lt;strong&gt;A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.&lt;/strong&gt; Cell 62: 999-1006, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1975517/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1975517&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0092-8674(90)90274-i&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1975517">Geisterfer-Lowrance et al. (1990)</a> identified heterozygosity for a missense mutation in the MYH7 gene (R403Q; <a href="/entry/160760#0001">160760.0001</a>). <a href="#71" class="mim-tip-reference" title="Ross, R. S., Knowlton, K. U. &lt;strong&gt;Two brothers with unexplained cardiomegaly: initial clues to the molecular basis of a hereditary cardiac disease.&lt;/strong&gt; Trends Cardiovasc. Med. 2: 2-5, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21239280/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21239280&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/1050-1738(92)90036-R&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21239280">Ross and Knowlton (1992)</a> reviewed this discovery beginning with the patients first seen by Pare in the 1950s. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1975517+21239280+13732753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a ribonuclease protection assay, <a href="#88" class="mim-tip-reference" title="Watkins, H., Rosenzweig, A., Hwang, D.-S., Levi, T., McKenna, W., Seidman, C. E., Seidman, J. G. &lt;strong&gt;Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.&lt;/strong&gt; New Eng. J. Med. 326: 1108-1114, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1552912/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1552912&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199204233261703&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1552912">Watkins et al. (1992)</a> screened the beta cardiac myosin heavy-chain genes of probands from 25 unrelated families with familial hypertrophic cardiomyopathy and identified 7 different missense mutations in the MYH7 gene in 12 of the 25 families (see, e.g., <a href="/entry/160760#0003">160760.0003</a>-<a href="/entry/160760#0007">160760.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1552912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Atiga, W. L., Fananapazir, L., McAreavey, D., Calkins, H., Berger, R. D. &lt;strong&gt;Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.&lt;/strong&gt; Circulation 101: 1237-1242, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10725281/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10725281&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.101.11.1237&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10725281">Atiga et al. (2000)</a> studied 36 patients with CMH1 using beat-to-beat QT variability analysis. This technique quantifies the beat-to-beat fluctuations in ventricular repolarization reflected in the QT interval. Seven mutations were found in this group: 9 patients had the 'severe' arg403-to-gln mutation (<a href="/entry/160760#0001">160760.0001</a>) and 8 had the more benign leu908-to-val mutation (<a href="/entry/160760#0010">160760.0010</a>). <a href="#4" class="mim-tip-reference" title="Atiga, W. L., Fananapazir, L., McAreavey, D., Calkins, H., Berger, R. D. &lt;strong&gt;Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.&lt;/strong&gt; Circulation 101: 1237-1242, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10725281/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10725281&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.101.11.1237&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10725281">Atiga et al. (2000)</a> found higher QT variability indices in patients with CMH1 compared with controls, and the greatest abnormality was observed in patients with the arg403-to-gln mutation. CMH1 patients therefore exhibited labile ventricular repolarization and were considered to be at higher risk of sudden death from ventricular arrhythmias, particularly those with a 'severe' mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10725281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Blair, E., Price, S. J., Baty, C. J., Ostman-Smith, I., Watkins, H. &lt;strong&gt;Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. (Letter)&lt;/strong&gt; J. Med. Genet. 38: 385-387, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11424919/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11424919&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.38.6.385&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11424919">Blair et al. (2001)</a> studied a family with familial hypertrophic cardiomyopathy in which 2 individuals suffered early sudden death and a third individual died suddenly at the age of 60 years with autopsy evidence of familial hypertrophic cardiomyopathy. A val606-to-met (V606M) mutation was observed in the MYH7 gene (<a href="/entry/160760#0005">160760.0005</a>). This mutation had previously been proposed to give rise to a benign phenotype (see <a href="#1" class="mim-tip-reference" title="Abchee, A., Marian, A. J. &lt;strong&gt;Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy.&lt;/strong&gt; J. Investig. Med. 45: 191-196, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9154300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9154300&lt;/a&gt;]" pmid="9154300">Abchee and Marian, 1997</a>). A second ala728-to-val (A728V) mutation (<a href="/entry/160760#0025">160760.0025</a>) was found in cis with the V606M mutation. <a href="#6" class="mim-tip-reference" title="Blair, E., Price, S. J., Baty, C. J., Ostman-Smith, I., Watkins, H. &lt;strong&gt;Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. (Letter)&lt;/strong&gt; J. Med. Genet. 38: 385-387, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11424919/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11424919&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.38.6.385&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11424919">Blair et al. (2001)</a> suggested that this second mutation in cis explained the more severe phenotype seen in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9154300+11424919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Gene mutations in apical hypertrophic cardiomyopathy.&lt;/strong&gt; Circulation 112: 2805-2811, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16267253/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16267253&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCULATIONAHA.105.547448&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16267253">Arad et al. (2005)</a> identified 2 different MYH7 missense mutations in 2 probands with apical hypertrophy from families in which the mutations also caused other CMH morphologies (see <a href="/entry/160760#0038">160760.0038</a> and <a href="/entry/160760#0039">160760.0039</a>, respectively). Another MYH7 mutation (R243H; <a href="/entry/160760#0040">160760.0040</a>) was identified in a sporadic patient with apical hypertrophy; the same R243H mutation was later found by <a href="#45" class="mim-tip-reference" title="Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L. &lt;strong&gt;Mutations in sarcomere protein genes in left ventricular noncompaction.&lt;/strong&gt; Circulation 117: 2893-2901, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18506004/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18506004&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCULATIONAHA.107.746164&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18506004">Klaassen et al. (2008)</a> in a family segregating isolated left ventricular noncompaction (LVNC5; see <a href="/entry/613426">613426</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16267253+18506004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Japanese proband with CMH (CMH17; <a href="/entry/613873">613873</a>), <a href="#58" class="mim-tip-reference" title="Matsushita, Y., Furukawa, T., Kasanuki, H., Nishibatake, M., Kurihara, Y., Ikeda, A., Kamatani, N., Takeshima, H., Matsuoka, R. &lt;strong&gt;Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.&lt;/strong&gt; J. Hum. Genet. 52: 543-548, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17476457/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17476457&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10038-007-0149-y&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17476457">Matsushita et al. (2007)</a> identified heterozygosity for a missense mutation in the JPH2 gene (<a href="/entry/605267#0004">605267.0004</a>); subsequent analysis of 15 known CMH-associated genes revealed that the proband also carried 2 mutations in MYH7 (see, e.g., <a href="/entry/160760#0016">160760.0016</a>). The authors suggested that mutations in both JPH2 and MYH7 could be associated with the pathogenesis of CMH in this proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17476457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 32-year-old African American woman with severe hypertrophic cardiomyopathy (see CMH7, <a href="/entry/613690">613690</a>) and a family history of CMH and sudden cardiac death, <a href="#26" class="mim-tip-reference" title="Frazier, A., Judge, D. P., Schulman, S. P., Johnson, N., Holmes, K. W., Murphy, A. M. &lt;strong&gt;Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.&lt;/strong&gt; Pediat. Cardiol. 29: 846-850, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18175163/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18175163&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00246-007-9177-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18175163">Frazier et al. (2008)</a> identified a heterozygous mutation in the TNNI3 gene (P82S; <a href="/entry/191044#0003">191044.0003</a>) and a heterozygous mutation in the MYH7 gene (R453S; <a href="/entry/160760#0043">160760.0043</a>). <a href="#26" class="mim-tip-reference" title="Frazier, A., Judge, D. P., Schulman, S. P., Johnson, N., Holmes, K. W., Murphy, A. M. &lt;strong&gt;Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.&lt;/strong&gt; Pediat. Cardiol. 29: 846-850, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18175163/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18175163&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00246-007-9177-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18175163">Frazier et al. (2008)</a> suggested that the P82S variant, which they found in 3% of healthy African Americans, is a disease-modifying mutation in severely affected individuals, and that carriers of the variant might be at increased risk of late-onset cardiac hypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18175163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Skeletal Muscle Involvement</em></strong></p><p>
<a href="#24" class="mim-tip-reference" title="Fananapazir, L., Dalakas, M. C., Cyran, F., Cohn, G., Epstein, N. D. &lt;strong&gt;Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.&lt;/strong&gt; Proc. Nat. Acad. Sci. 90: 3993-3997, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8483915/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8483915&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.90.9.3993&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8483915">Fananapazir et al. (1993)</a> demonstrated by biopsy of the soleus muscle the presence of central core disease of skeletal muscle in association with hypertrophic cardiomyopathy due to any of 4 different mutations in the MYH7 gene. These findings were consistent with congenital myopathy-7A (CMYO7A; <a href="/entry/608358">608358</a>), also caused by mutation in the MYH7 gene. However, almost all patients had no significant muscle weakness, despite the histologic changes. In 1 family with a L908V mutation (<a href="/entry/160760#0010">160760.0010</a>), central cores were demonstrated on soleus muscle biopsy, although cardiac hypertrophy was absent on echocardiogram in 2 adults and 3 children. The histologic hallmark was the absence of mitochondria in the center of many type I fibers as revealed by light microscopic examination of NADH-stained fresh-frozen skeletal muscle sections. Soleus muscle samples from patients in 4 kindreds in which hypertrophic cardiomyopathy was not linked to the MYH7 locus showed no myopathy or central core disease. <a href="#60" class="mim-tip-reference" title="McKenna, W. J. &lt;strong&gt;Personal Communication.&lt;/strong&gt; London, England 5/30/1993."None>McKenna (1993)</a>, who stated that he had never seen clinical evidence of skeletal myopathy in CMH1, doubted the significance of the findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8483915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mother with myosin storage myopathy (CMYO7A; <a href="/entry/608368">608368</a>), who later developed CMH, and in her daughter, who had early-symptomatic left ventricular noncompaction (LVNC5; see <a href="/entry/613426">613426</a>), <a href="#83" class="mim-tip-reference" title="Uro-Coste, E., Arne-Bes, M.-C., Pellissier, J.-F., Richard, P., Levade, T., Heitz, F., Figarella-Branger, D., Delisle, M.-B. &lt;strong&gt;Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 leu1793pro mutation.&lt;/strong&gt; Neuromusc. Disord. 19: 163-166, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19138847/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19138847&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.nmd.2008.11.012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19138847">Uro-Coste et al. (2009)</a> identified heterozygosity for the L1793P mutation in MYH7 (<a href="/entry/160760#0037">160760.0037</a>). The mother presented at age 30 years with proximal muscle weakness, which progressed to the point of her being wheelchair-bound by 48 years of age. At age 51, CMH was diagnosed; echocardiography revealed no atrial or ventricular dilatation, and no abnormal appearance of the ventricular walls. Skeletal muscle biopsy at 53 years of age showed subsarcolemmal accumulation of hyaline material in type 1 fibers. Her 24-year-old daughter presented with heart failure at 3 months of age and was diagnosed with early-onset cardiomyopathy. Angiography revealed a less-contractile, irregular 'spongiotic' wall in the inferior left ventricle, and echocardiography confirmed the diagnosis of LVNC. The daughter did not complain of muscle weakness, but clinical examination revealed bilateral wasting of the distal leg anterior compartment and she had some difficulty with heel-walking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19138847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="genotypePhenotypeCorrelations" class="mim-anchor"></a>
<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimGenotypePhenotypeCorrelationsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<div id="mimGenotypePhenotypeCorrelationsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In a cohort of 239 patients with hypertrophic cardiomyopathy who were negative for mutation in the 8 most common CMH-associated myofilament genes, <a href="#81" class="mim-tip-reference" title="Theis, J. L., Bos, J. M., Bartleson, V. B., Will, M. L., Binder, J., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J. &lt;strong&gt;Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.&lt;/strong&gt; Biochem. Biophys. Res. Commun. 351: 896-902, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17097056/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17097056&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.bbrc.2006.10.119&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17097056">Theis et al. (2006)</a> analyzed 5 candidate Z-disc genes and identified 14 mutations in 13 patients. The authors observed that 11 (85%) of the 13 patients with Z-disc-associated CMH had a sigmoidal septal contour, in contrast to the reverse septal curvature seen with myofilament-associated CMH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17097056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="heterogeneity" class="mim-anchor"></a>
<h4 href="#mimHeterogeneityFold" id="mimHeterogeneityToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHeterogeneityToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Heterogeneity</strong>
</span>
</h4>
</div>
<div id="mimHeterogeneityFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In affected members of an Italian family, <a href="#25" class="mim-tip-reference" title="Ferraro, M., Scarton, G., Ambrosini, M. &lt;strong&gt;Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family.&lt;/strong&gt; J. Med. Genet. 27: 363-366, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2359098/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2359098&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.6.363&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2359098">Ferraro et al. (1990)</a> found that 7 affected members and none of 3 unaffected members showed a fragile site on 16q (FRA16B). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2359098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Hengstenberg et al. (<a href="#35" class="mim-tip-reference" title="Hengstenberg, C., Charron, P., Beckmann, J. S., Weissenbach, J., Isnard, R., Komajda, M., Schwartz, K. &lt;strong&gt;Evidence for the existence of a fifth gene causing familial hypertrophic cardiomyopathy. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 53 (suppl.): A1013 only, 1993."None>1993</a>, <a href="#36" class="mim-tip-reference" title="Hengstenberg, C., Charron, P., Isnard, R., Beckmann, J. S., Fetler, L., Desnos, M., Hagege, A., Bouhour, J. B., Souriant, G., Dubourg, O., Schwartz, K., Komajda, M. &lt;strong&gt;Mise en evidence d&#x27;un cinquieme locus implique dans les cardiomyopathies hypertrophiques familiales.&lt;/strong&gt; Arch. Mal. Coeur. 87: 1655-1662, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7786104/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7786104&lt;/a&gt;]" pmid="7786104">1994</a>) studied a family with familial hypertrophic cardiomyopathy in which preliminary haplotype analyses excluded linkage to chromosomes 14q1, 1q3, 11p13-q13, and 15q2, suggesting the existence of another locus, designated CMH5, for this disorder. Further studies in this family by <a href="#69" class="mim-tip-reference" title="Richard, P., Isnard, R., Carrier, L., Dubourg, O., Donatien, Y., Mathieu, B., Bonne, G., Gary, F., Charron, P., Hagege, A., Komajda, M., Schwartz, K., Hainque, B. &lt;strong&gt;Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.&lt;/strong&gt; J. Med. Genet. 36: 542-545, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10424815/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10424815&lt;/a&gt;]" pmid="10424815">Richard et al. (1999)</a> demonstrated that of 8 affected family members, 4 had a mutation in the MYH7 gene (<a href="/entry/160760#0033">160760.0033</a>), 2 had a mutation in the MYBPC3 gene (<a href="/entry/600958#0014">600958.0014</a>), and 2 were doubly heterozygous for the 2 mutations. The doubly heterozygous patients exhibited marked left ventricular hypertrophy, which was significantly greater than that in the other affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7786104+10424815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#73" class="mim-tip-reference" title="Seidman, J. G., Seidman, C. &lt;strong&gt;The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms.&lt;/strong&gt; Cell 104: 557-567, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11239412/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11239412&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(01)00242-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11239412">Seidman and Seidman (2001)</a> reviewed the genetic and clinical heterogeneity of hypertrophic cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11239412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Arad, M., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Phenotypic diversity in hypertrophic cardiomyopathy.&lt;/strong&gt; Hum. Molec. Genet. 11: 2499-2506, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12351586/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12351586&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/11.20.2499&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12351586">Arad et al. (2002)</a> reviewed the clinical spectrum of hypertrophic cardiomyopathy in the context of genetic heterogeneity, as well as animal models of hypertrophic cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12351586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 108 consecutive patients with hypertrophic cardiomyopathy diagnosed by echocardiography, angiography, or findings after myectomy, <a href="#23" class="mim-tip-reference" title="Erdmann, J., Daehmlow, S., Wischke, S., Senyuva, M., Werner, U., Raible, J., Tanis, N., Dyachenko, S., Hummel, M., Hetzer, R., Regitz-Zagrosek, V. &lt;strong&gt;Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.&lt;/strong&gt; Clin. Genet. 64: 339-349, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12974739/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12974739&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.2003.00151.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12974739">Erdmann et al. (2003)</a> screened for mutations in 6 sarcomeric genes. They identified 34 different mutations: 18 in the MYBPC3 gene in 20 patients, with 2 mutations identified twice; 13 missense mutations in the MYH7 gene in 14 patients, with 1 mutation identified twice; and 1 amino acid change each in the TPM1, TNNT2, and TNNI3 genes. No disease-causing mutation was identified in TNNC1 (<a href="/entry/191040">191040</a>). In only 8 of the 37 mutation carriers was the mutation sporadic. Thus, systematic mutation screening in a large sample of patients with hypertrophic cardiomyopathy led to a genetic diagnosis in approximately 30% of unrelated index patients and in approximately 57% of patients with a positive family history. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12974739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 197 unrelated probands with familial or sporadic hypertrophic cardiomyopathy, <a href="#68" class="mim-tip-reference" title="Richard, P., Charron, P., Carrier, L., Ledeuil, C., Cheav, T., Pichereau, C., Benaiche, A., Isnard, R., Dubourg, O., Burban, M., Gueffet, J.-P., Millaire, A., Desnos, M., Schwartz, K., Hainque, B., Komajda, M. &lt;strong&gt;Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.&lt;/strong&gt; Circulation 107: 2227-2232, 2003. Note: Erratum: Circulation 109: 3258 only, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12707239/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12707239&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.CIR.0000066323.15244.54&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12707239">Richard et al. (2003)</a> screened for mutations in 9 genes and identified mutations in 124 (63%) of 197 probands. The MYBPC3 and MYH7 genes accounted for 82% of families with identified mutations (42% and 40%, respectively). A mutation was identified in 15 (60%) of 25 sporadic patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12707239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 80 unrelated Australian probands with CMH, <a href="#12" class="mim-tip-reference" title="Chiu, C., Tebo, M., Ingles, J., Yeates, L., Arthur, J. W., Lind, J. M., Semsarian, C. &lt;strong&gt;Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.&lt;/strong&gt; J. Molec. Cell. Cardiol. 43: 337-343, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17655857/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17655857&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.yjmcc.2007.06.009&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17655857">Chiu et al. (2007)</a> screened 7 CMH genes, including MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, MYL2, and MYL3. Twenty-four different mutations were identified in 23 (29%) of 80 families, with 19 probands having a single mutation (11 in MYH7, 4 in MYBPC3, 3 in TNNI3, and 1 in TNNT2). Multiple gene mutations were identified in 4 probands: 1 was doubly heterozygous, with 1 mutation in MYH7 and 1 in MYBPC3, whereas the other 3 were compound heterozygous for mutations in MYBPC3 (see, e.g., <a href="/entry/600958#0021">600958.0021</a> and <a href="/entry/600958#0022">600958.0022</a>). Six (43%) of 14 affected individuals from multiple mutation families experienced sudden cardiac death, compared with 10 (18%) of 55 affected members from single mutation families (p = 0.05). Septal wall thickness was increased in patients with multiple mutations (mean thickness, 30.7 mm vs 24.4 mm; p less than 0.05). <a href="#40" class="mim-tip-reference" title="Ingles, J., Doolan, A., Chiu, C., Seidman, J., Seidman, C., Semsarian, C. &lt;strong&gt;Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.&lt;/strong&gt; J. Med. Genet. 42: e59, 2005. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16199542/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16199542&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2005.033886&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16199542">Ingles et al. (2005)</a> concluded that multiple gene mutations occurring in CMH families may result in a more severe clinical phenotype because of a 'double-dose' effect, and emphasized the importance of screening the entire panel of CMH genes even after a single mutation has been identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17655857+16199542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#84" class="mim-tip-reference" title="Van Driest, S. L., Vasile, V. C., Ommen, S. R., Will, M. L., Tajik, A. J., Gersh, B. J., Ackerman, M. J. &lt;strong&gt;Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.&lt;/strong&gt; J. Am. Coll. Cardiol. 44: 1903-1910, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15519027/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15519027&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.jacc.2004.07.045&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15519027">Van Driest et al. (2004)</a> analyzed the MYBPC3 gene in a cohort of 389 CMH probands who had previously been genotyped for mutation in genes encoding the sarcomeric proteins comprising the thick filament (MYH7 and the regulatory and essential light chains, MYL2 and MYL3) and the thin filament (TNNT2, TNNI3, TPM1, and ACTC). Overall, 63 (16.2%) of the patients had a single mutation in the MYBPC3 gene, 54 (13.8%) in MYH7, 7 (1.8%) in MYL2, 6 (1.5%) in TNNT2, 4 (1.0%) in TNNI3, 2 (0.5%) in TPM1, and 1 (0.3%) in ACTC. The 10 patients with multiple mutations (2.6%) had the most severe disease presentation: they were significantly younger at diagnosis than any other subgroup, had the most hypertrophy, and had the highest incidence of myectomy and placement of implantable cardioverter-defibrillators. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15519027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>From 2000 to 2012, <a href="#19" class="mim-tip-reference" title="Das, J., Ingles, J., Bagnall, R. D., Semsarian, C. &lt;strong&gt;Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.&lt;/strong&gt; Genet. Med. 16: 286-293, 2014. Note: Erratum: Genet. Med. 21: 1264 only, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24113344/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24113344&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2013.138&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24113344">Das et al. (2014)</a> studied a total of 136 unrelated hypertrophic cardiomyopathy probands, of which 63 (46%) carried at least 1 pathogenic mutation. MYBPC3 (<a href="/entry/600958">600958</a>) accounted for 34 patients, or 47%, and MYH7 (<a href="/entry/160760">160760</a>) accounted for 23 patients, or 32%. Together, these gene variants accounted for 79%. In this study, 5 variants in 6 probands (10%) were reclassified: 2 variants of uncertain significance were upgraded to pathogenic, 1 variant of uncertain significance and 1 pathogenic variant were downgraded to benign, and 1 pathogenic variant (found in 2 families) was downgraded to a variant of uncertain significance. <a href="#19" class="mim-tip-reference" title="Das, J., Ingles, J., Bagnall, R. D., Semsarian, C. &lt;strong&gt;Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.&lt;/strong&gt; Genet. Med. 16: 286-293, 2014. Note: Erratum: Genet. Med. 21: 1264 only, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24113344/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24113344&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2013.138&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24113344">Das et al. (2014)</a> concluded that given the rapid growth of genetic information available, periodic reassessment of single-nucleotide variant data is essential in hypertrophic cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24113344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="diagnosis" class="mim-anchor"></a>
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>To screen for mutations that cause familial hypertrophic cardiomyopathy, <a href="#70" class="mim-tip-reference" title="Rosenzweig, A., Watkins, H., Hwang, D.-S., Miri, M., McKenna, W., Traill, T. A., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes.&lt;/strong&gt; New Eng. J. Med. 325: 1753-1760, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1944483/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1944483&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199112193252501&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1944483">Rosenzweig et al. (1991)</a> capitalized on the fact that 'ectopic' or 'illegitimate' transcription of beta cardiac myosin heavy chain gene can be detected in blood lymphocytes. Preclinical or prenatal screening will make it possible to study the disorder longitudinally and to develop preventive interventions. The findings again illustrate the important application of PCR. <a href="#15" class="mim-tip-reference" title="Clarke, A., Harper, P. &lt;strong&gt;Genetic testing for hypertrophic cardiomyopathy. (Letter)&lt;/strong&gt; New Eng. J. Med. 327: 1175-1176, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1528221/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1528221&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199210153271616&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1528221">Clarke and Harper (1992)</a> suggested that 'the parallels between this cardiomyopathy and Huntington's disease are sufficiently striking that we would be very cautious about testing for it in childhood. The emotional consequences of being brought up under a cloud of doom may be damaging, and the lack of any uncertainty in identifying gene carriers by mutation analysis might paradoxically make this worse.' <a href="#89" class="mim-tip-reference" title="Watkins, H., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Genetic testing for hypertrophic cardiomyopathy. (Letter)&lt;/strong&gt; New Eng. J. Med. 327: 1176, 1992."None>Watkins et al. (1992)</a> countered this view, saying that children with the condition face a 4 to 6% risk of sudden death each year. Genetic diagnosis will allow evaluation of prophylactic use of antiarrhythmic agents or implantable defibrillator devices. It will also provide parents and physicians an appropriate basis on which to make decisions regarding the participation of children in competitive sports. They suggested that in their experience '...any perception of a cloud of doom comes as much from a lack of knowledge of and research into this inherited cardiomyopathy as from anything else.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1944483+1528221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To provide a method of genetic diagnosis of cardiomyopathy, <a href="#62" class="mim-tip-reference" title="Mogensen, J., Andersen, P. S., Steffensen, U., Christiansen, M., Egeblad, H., Gregersen, N., Borglum, A. D. &lt;strong&gt;Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy. (Letter)&lt;/strong&gt; J. Med. Genet. 38: 193-197, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11303515/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11303515&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.38.3.193&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11303515">Mogensen et al. (2001)</a> developed a method of linkage analysis using multiplex PCR of markers covering 9 loci associated with familial hypertrophic cardiomyopathy. They evaluated this method in 3 families. In all 3 families the locus showing the highest lod score was subsequently found by mutation analysis to be the locus at which the disease-causing gene was found. <a href="#62" class="mim-tip-reference" title="Mogensen, J., Andersen, P. S., Steffensen, U., Christiansen, M., Egeblad, H., Gregersen, N., Borglum, A. D. &lt;strong&gt;Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy. (Letter)&lt;/strong&gt; J. Med. Genet. 38: 193-197, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11303515/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11303515&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.38.3.193&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11303515">Mogensen et al. (2001)</a> emphasized the importance of stringent phenotypic definitions in the diagnostic process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11303515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#41" class="mim-tip-reference" title="Ingles, J., Sarina, T., Yeates, L., Hunt, L., Macciocca, I., McCormack, L., Winship, I., McGaughran, J., Atherton, J., Semsarian, C. &lt;strong&gt;Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy.&lt;/strong&gt; Genet. Med. 15: 972-977, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23598715/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23598715&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2013.44&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23598715">Ingles et al. (2013)</a> studied the clinical predictors of genetic testing outcomes for hypertrophic cardiomyopathy. The authors studied 265 unrelated individuals with hypertrophic cardiomyopathy over a 10-year period in specialized cardiac genetic clinics across Australia. Of the 265 individuals studied, 138 (52%) had at least 1 mutation identified. The mutation detection rate was significantly higher in probands with hypertrophic cardiomyopathy with an established family history of disease (72% vs 29%, p less than 0.0001), and a positive family history of sudden cardiac death further increased the detection rate (89% vs 59%, p less than 0.0001). Multivariate analysis identified female gender, increased left ventricular wall thickness, family history of hypertrophic cardiomyopathy, and family history of sudden cardiac death as being associated with greatest chance of identifying a gene mutation. Multiple mutation carriers (n = 16, 6%) were more likely to have suffered an out-of-hospital cardiac arrest or sudden cardiac death (31% vs 7%, p = 0.012). <a href="#41" class="mim-tip-reference" title="Ingles, J., Sarina, T., Yeates, L., Hunt, L., Macciocca, I., McCormack, L., Winship, I., McGaughran, J., Atherton, J., Semsarian, C. &lt;strong&gt;Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy.&lt;/strong&gt; Genet. Med. 15: 972-977, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23598715/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23598715&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/gim.2013.44&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23598715">Ingles et al. (2013)</a> concluded that family history is a key clinical predictor of a positive genetic diagnosis and has direct clinical relevance, particularly in the pretest genetic counseling setting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23598715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPathogenesisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<div id="mimPathogenesisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#86" class="mim-tip-reference" title="Wagner, J. A., Sax, F. L., Weisman, H. F., Porterfield, J., McIntosh, C., Weisfeldt, M. L., Snyder, S. H., Epstein, S. E. &lt;strong&gt;Calcium-antagonist receptors in the atrial tissue of patients with hypertrophic cardiomyopathy.&lt;/strong&gt; New Eng. J. Med. 320: 755-761, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2537929/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2537929&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198903233201202&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2537929">Wagner et al. (1989)</a> investigated a possible role of adrenergic innervation or of cellular calcium regulation in pathogenesis, as suggested by the presence of hyperdynamic left ventricular function and by the clinical and symptomatic improvement seen in patients treated with beta-receptor antagonists or calcium antagonists. They found that calcium-antagonist binding sites, measured as the amount of dihydropyridine bound to atrial tissue, were increased by 33% in patients with hypertrophic cardiomyopathy. The densities of saxitoxin-binding sites on voltage-sensitive sodium channels and beta-adrenoceptors did not differ from controls. <a href="#86" class="mim-tip-reference" title="Wagner, J. A., Sax, F. L., Weisman, H. F., Porterfield, J., McIntosh, C., Weisfeldt, M. L., Snyder, S. H., Epstein, S. E. &lt;strong&gt;Calcium-antagonist receptors in the atrial tissue of patients with hypertrophic cardiomyopathy.&lt;/strong&gt; New Eng. J. Med. 320: 755-761, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2537929/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2537929&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198903233201202&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2537929">Wagner et al. (1989)</a> interpreted the findings as suggesting that abnormal calcium fluxes through voltage-sensitive calcium channels may play a pathophysiologic role in the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2537929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>There is evidence that 'myocardial bridging' with compression of an epicardial coronary artery, such as the left anterior descending coronary artery, can cause myocardial ischemia and sudden death. <a href="#95" class="mim-tip-reference" title="Yetman, A. T., McCrindle, B. W., MacDonald, C., Freedom, R. M., Gow, R. &lt;strong&gt;Myocardial bridging in children with hypertrophic cardiomyopathy--a risk factor for sudden death.&lt;/strong&gt; New Eng. J. Med. 339: 1201-1209, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9780340/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9780340&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199810223391704&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9780340">Yetman et al. (1998)</a> performed angiographic studies of 36 children with hypertrophic cardiomyopathy to determine whether myocardial bridging was present and, if so, to assess the characteristics of systolic narrowing of the left anterior descending coronary artery caused by myocardial bridging and the duration of residual diastolic compression. Myocardial bridging was present in 10 (28%) of the patients. As compared with patients without bridging, patients with bridging had a greater incidence of chest pain, cardiac arrest with subsequent resuscitation, and ventricular tachycardia. On average, the patients with bridging had a reduction in systolic blood pressure with exercise, as compared with an elevation in those without bridging. Patients with bridging also had greater ST segment depression with exercise and a shorter duration of exercise. Kaplan-Meier estimates of the proportions of patients who had not died or had cardiac arrest with subsequent resuscitation 5 years after the diagnosis of hypertrophic cardiomyopathy were 67% among patients with bridging and 94% among those without bridging. No statement concerning the family history or other information relevant to an etiology in these patients was provided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9780340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using pharmacologic models of cardiac hypertrophy in mice, <a href="#27" class="mim-tip-reference" title="Friddle, C. J., Koga, T., Rubin, E. M., Bristow, J. &lt;strong&gt;Expression profiling reveals distinct sets of genes altered during induction and regression of cardiac hypertrophy.&lt;/strong&gt; Proc. Nat. Acad. Sci. 97: 6745-6750, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10829065/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10829065&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10829065[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.100127897&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10829065">Friddle et al. (2000)</a> performed expression profiling with fragments of more than 4,000 genes to characterize and contrast expression changes during induction and regression of hypertrophy. Administration of angiotensin II and isoproterenol by osmotic minipump produced increases in cardiac weight (15% and 45%, respectively) that returned to preinduction size after drug withdrawal. From multiple expression analyses of left ventricular RNA isolated at daily time points during cardiac hypertrophy and regression, <a href="#27" class="mim-tip-reference" title="Friddle, C. J., Koga, T., Rubin, E. M., Bristow, J. &lt;strong&gt;Expression profiling reveals distinct sets of genes altered during induction and regression of cardiac hypertrophy.&lt;/strong&gt; Proc. Nat. Acad. Sci. 97: 6745-6750, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10829065/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10829065&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10829065[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.100127897&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10829065">Friddle et al. (2000)</a> identified sets of genes whose expression was altered at specific stages of this process. While confirming the participation of 25 genes or pathways previously shown to be altered by hypertrophy, a larger set of 30 genes was identified whose expression had not previously been associated with cardiac hypertrophy or regression. Of the 55 genes that showed reproducible changes during the time course of induction and regression, 32 were altered only during induction, and 8 were altered only during regression. Thus, cardiac remodeling during regression uses a set of genes that are distinct from those used during induction of hypertrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10829065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#82" class="mim-tip-reference" title="Tsybouleva, N., Zhang, L., Chen, S., Patel, R., Lutucuta, S., Nemoto, S., DeFreitas, G., Entman, M., Carabello, B. A., Roberts, R., Marian, A. J. &lt;strong&gt;Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and cardiac phenotype of hypertrophic cardiomyopathy.&lt;/strong&gt; Circulation 109: 1284-1291, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14993121/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14993121&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=14993121[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.CIR.0000121426.43044.2B&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14993121">Tsybouleva et al. (2004)</a> observed that myocardial aldosterone and aldosterone synthase (CYP11B2; <a href="/entry/124080">124080</a>) mRNA levels were elevated by 4- to 6-fold in patients with hypertrophic cardiomyopathy compared to controls. In studies in rat cardiomyocytes, they found that aldosterone increased expression of several hypertrophic markers via protein kinase D (PRKCM; <a href="/entry/605435">605435</a>) and increased collagens and TGFB1 (<a href="/entry/190180">190180</a>) via PI3K-delta (PIK3CD; <a href="/entry/602839">602839</a>). Inhibition of PRKCM and PIK3CD abrogated the hypertrophic and profibrotic effects, respectively, as did the mineralocorticoid receptor antagonist spironolactone. In a mouse model of hypertrophic cardiomyopathy, spironolactone reversed interstitial fibrosis, decreased myocyte disarray, and improved diastolic function. <a href="#82" class="mim-tip-reference" title="Tsybouleva, N., Zhang, L., Chen, S., Patel, R., Lutucuta, S., Nemoto, S., DeFreitas, G., Entman, M., Carabello, B. A., Roberts, R., Marian, A. J. &lt;strong&gt;Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and cardiac phenotype of hypertrophic cardiomyopathy.&lt;/strong&gt; Circulation 109: 1284-1291, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14993121/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14993121&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=14993121[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.CIR.0000121426.43044.2B&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14993121">Tsybouleva et al. (2004)</a> concluded that aldosterone is a major link between sarcomeric mutations and cardiac phenotype in CMH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14993121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalManagement" class="mim-anchor"></a>
<h4 href="#mimClinicalManagementFold" id="mimClinicalManagementToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalManagementToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<div id="mimClinicalManagementFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#92" class="mim-tip-reference" title="Wilson, R., Gibson, T. C., Terrien, C. M., Jr., Levy, A. M. &lt;strong&gt;Hyperthyroidism and familial hypertrophic cardiomyopathy.&lt;/strong&gt; Arch. Intern. Med. 143: 378-380, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6824408/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6824408&lt;/a&gt;]" pmid="6824408">Wilson et al. (1983)</a> observed marked improvement in the manifestations of familial hypertrophic cardiomyopathy when affected persons with hyperthyroidism were treated for the latter condition. This prompted them to suggest that antithyroid therapy 'should be considered in this form of cardiomyopathy.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6824408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In discussing the management of hypertrophic cardiomyopathy, <a href="#79" class="mim-tip-reference" title="Spirito, P., Seidman, C. E., McKenna, W. J., Maron, B. J. &lt;strong&gt;The management of hypertrophic cardiomyopathy.&lt;/strong&gt; New Eng. J. Med. 336: 775-782, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9052657/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9052657&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199703133361107&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9052657">Spirito et al. (1997)</a> reviewed heterogeneity of clinical and genetic features and stated that 'the diverse clinical and genetic features of hypertrophic cardiomyopathy make it impossible to define precise guidelines for management.' The treatment of symptoms to improve quality of life and the identification of patients who are at high risk for sudden death and require aggressive therapy are 2 distinct issues that must be addressed by largely independent strategies. The stratification of risk and the prevention of sudden death were discussed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9052657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Ventricular tachycardia or fibrillation is thought to be the principal mechanism of sudden death in patients with hypertrophic cardiomyopathy. <a href="#54" class="mim-tip-reference" title="Maron, B. J., Shen, W.-K., Link, M. S., Epstein, A. E., Almquist, A. K., Daubert, J. P., Bardy, G. H., Favale, S., Rea, R. F., Boriani, G., Estes, M., III, Spirito, P. &lt;strong&gt;Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy.&lt;/strong&gt; New Eng. J. Med. 342: 365-373, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10666426/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10666426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM200002103420601&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10666426">Maron et al. (2000)</a> conducted a retrospective study, the results of which indicated that in high-risk patients with hypertrophic cardiomyopathy, implantable defibrillators are highly effective in terminating such arrhythmias, indicating that these devices have a role in the prevention of sudden death. In comments on the study of <a href="#54" class="mim-tip-reference" title="Maron, B. J., Shen, W.-K., Link, M. S., Epstein, A. E., Almquist, A. K., Daubert, J. P., Bardy, G. H., Favale, S., Rea, R. F., Boriani, G., Estes, M., III, Spirito, P. &lt;strong&gt;Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy.&lt;/strong&gt; New Eng. J. Med. 342: 365-373, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10666426/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10666426&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM200002103420601&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10666426">Maron et al. (2000)</a>, <a href="#90" class="mim-tip-reference" title="Watkins, H. &lt;strong&gt;Sudden death in hypertrophic cardiomyopathy. (Editorial)&lt;/strong&gt; New Eng. J. Med. 342: 422-424, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10666434/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10666434&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM200002103420609&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10666434">Watkins (2000)</a> stated that for most patients with hypertrophic cardiomyopathy, the risk is not high enough to offset the adverse effects of an implantable defibrillator. He suggested the creation of an international registry to document discharge rates after implantation for each of the indicators of risk. Ideally, the data should include molecular genetic information, since the underlying mutation will itself be predictive. He cited the cohort studies of <a href="#59" class="mim-tip-reference" title="McKenna, W. J., Oakley, C. M., Krikler, D. M., Goodwin, J. F. &lt;strong&gt;Improved survival with amiodarone in patients with hypertrophic cardiomyopathy and ventricular tachycardia.&lt;/strong&gt; Brit. Heart J. 53: 412-416, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4039188/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4039188&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/hrt.53.4.412&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4039188">McKenna et al. (1985)</a> in which patients with hypertrophic cardiomyopathy who were treated with low-dose amiodarone compared with untreated historical controls suggested that long-term treatment was partially protective; and the work of <a href="#65" class="mim-tip-reference" title="Ostman-Smith, I., Wettrell, G., Riesenfeld, T. A. &lt;strong&gt;A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoceptor antagonist treatment.&lt;/strong&gt; J. Am. Coll. Cardiol. 34: 1813-1822, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10577575/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10577575&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0735-1097(99)00421-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10577575">Ostman-Smith et al. (1999)</a>, indicating that high doses of beta-blockers may also confer protection. Since there has been an excess rate of sudden death during or shortly after exercise, most physicians recommend that patients with hypertrophic cardiomyopathy avoid competitive sports or intensive exertion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4039188+10666434+10577575+10666426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 480 consecutive patients with hypertrophic cardiomyopathy, <a href="#77" class="mim-tip-reference" title="Spirito, P., Bellone, P., Harris, K. M., Bernabo, P., Bruzzi, P., Maron, B. J. &lt;strong&gt;Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy.&lt;/strong&gt; New Eng. J. Med. 342: 1778-1785, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10853000/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10853000&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM200006153422403&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10853000">Spirito et al. (2000)</a> found that the magnitude of hypertrophy is directly related to the risk of sudden death and then is a strong and independent predictor of prognosis. Young patients with extreme hypertrophy, even those with few or no symptoms, appeared to be at substantial long-term risk and thus were considered for interventions to prevent sudden death. Most patients with mild hypertrophy were at low risk and were reassured regarding their prognosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10853000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Ho, C. Y., Sweitzer, N. K., McDonough, B., Maron, B. J., Casey, S. A., Seidman, J. G., Seidman, C. E., Solomon, S. D. &lt;strong&gt;Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.&lt;/strong&gt; Circulation 105: 2992-2997, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12081993/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12081993&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.cir.0000019070.70491.6d&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12081993">Ho et al. (2002)</a> studied confirmed MYH7 mutation heterozygotes using echocardiography, including Doppler tissue imaging. Left ventricular ejection fraction was significantly higher in mutation carriers than in normal controls. Mean early diastolic myocardial velocities were significantly lower in mutation carriers, irrespective of whether hypertrophy was already present. Overall the authors concluded that abnormalities of diastolic function were detectable before the onset of myocardial hypertrophy in mutation carriers, providing a mechanism for predicting affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12081993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="populationGenetics" class="mim-anchor"></a>
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimPopulationGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In a discussion of hypertrophic cardiomyopathy, <a href="#50" class="mim-tip-reference" title="Maron, B. J., Bonow, R. O., Cannon, R. O., III, Leon, M. B., Epstein, S. E. &lt;strong&gt;Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology, and therapy.&lt;/strong&gt; New Eng. J. Med. 316: 780-789, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3547130/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3547130&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198703263161305&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3547130">Maron et al. (1987)</a> stated that approximately 45% of cases are sporadic. New mutations cannot be the explanation for all of the sporadic cases; hence, there may be other etiologically distinct disorders represented in the group of hypertrophic cardiomyopathies. Systematic echocardiographic surveys of families of patients with hypertrophic cardiomyopathy have identified relatives older than 50 years of age with mild and localized left ventricular hypertrophy. Thus, the true proportion of sporadic cases may not be as high as 45%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3547130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="history" class="mim-anchor"></a>
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#17" class="mim-tip-reference" title="Darsee, J. R., Heymsfield, S. B., Nutter, D. O. &lt;strong&gt;Hypertrophic cardiomyopathy and human leukocyte antigen linkage: differentiation of two forms of hypertrophic cardiomyopathy.&lt;/strong&gt; New Eng. J. Med. 300: 877-882, 1979. Note: Retraction: Nutter, Heymsfield, and Glenn, New Eng. J. Med. 308: 1400 only, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/370596/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;370596&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM197904193001602&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="370596">Darsee et al. (1979)</a> found a lod score of 7.7 for linkage between ASH and HLA and concluded that, in addition to the hereditary form linked to HLA, a sporadic unlinked form is associated with severe systemic hypertension. This presumably strong evidence placing a gene for hypertrophic subaortic stenosis on 6p by linkage to HLA was invalidated when the infamous John R. Darsee confessed fabrication of the data. Nutter also published a retraction. <a href="#63" class="mim-tip-reference" title="Motulsky, A. G. &lt;strong&gt;The HLA complex and disease: some interpretations and new data in cardiomyopathy. (Editorial)&lt;/strong&gt; New Eng. J. Med. 300: 918-919, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/570641/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;570641&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM197904193001610&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="570641">Motulsky (1979)</a> wrote a laudatory editorial to accompany the original article. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=370596+570641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In his retraction letter, Darsee stated: 'The lod scores were calculated, in part, by one of the journal referees who felt they should be included, and partly by my own calculations. The biometrist I consulted at Emory regarding these calculations was not familiar with lod scores and unable to provide assistance.' Before Darsee confessed, <a href="#18" class="mim-tip-reference" title="Darsee, J. R., Heymsfield, S. B. &lt;strong&gt;Decreased myocardial taurine levels and hypertaurinuria in a kindred with mitral-valve prolapse and congestive cardiomyopathy.&lt;/strong&gt; New Eng. J. Med. 304: 129-135, 1981. Note: Retraction: Heymsfield and Glenn, New Eng. J. Med. 308: 1400 only, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7003386/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7003386&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM198101153040301&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7003386">Darsee and Heymsfield (1981)</a> wrote: 'It is the pinhole through which we are forced to view this disease or these diseases that has helped confer a degree of homogeneity. The pinhole is the limited collection of tools we have to study hypertrophic cardiomyopathy--the angiogram, the echocardiogram, and the autopsy table. It is a common practice of even the most perspicacious and critical investigators to conclude that diseases that look the same on canvas were painted with the same brush.' Although these words are true in general terms and are a fine statement of the principle of genetic heterogeneity, the falsified data do not support them, of course. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7003386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Bingle1975" class="mim-tip-reference" title="Bingle, G. J., Dillon, J., Hurwitz, R. &lt;strong&gt;Asymmetric septal hypertrophy in a large Amish kindred.&lt;/strong&gt; Clin. Genet. 7: 255-261, 1975.">Bingle et al. (1975)</a>; <a href="#Bulkley1977" class="mim-tip-reference" title="Bulkley, B. H., Weisfeldt, M. L., Hutchins, G. M. &lt;strong&gt;Isometric cardiac contraction: a possible cause of the disorganized myocardial pattern of idiopathic hypertrophic subaortic stenosis.&lt;/strong&gt; New Eng. J. Med. 296: 135-139, 1977.">Bulkley et al. (1977)</a>; <a href="#Criley1965" class="mim-tip-reference" title="Criley, J. M., Lewis, K. B., White, R. I., Jr., Ross, R. S. &lt;strong&gt;Pressure gradients without obstruction: a new concept of &#x27;hypertrophic subaortic stenosis.&#x27;.&lt;/strong&gt; Circulation 32: 881-887, 1965.">Criley et al. (1965)</a>; <a href="#Gardin1982" class="mim-tip-reference" title="Gardin, J. M., Gottdiener, J. S., Radvany, R., Maron, B. J., Lesch, M. &lt;strong&gt;HLA linkage vs association in hypertrophic cardiomyopathy: evidence for the absence of an association in a heterogeneous Caucasian population.&lt;/strong&gt; Chest 81: 466-472, 1982.">Gardin et al. (1982)</a>; <a href="#Goodwin1976" class="mim-tip-reference" title="Goodwin, J. F., Krikler, D. M. &lt;strong&gt;Arrhythmia as a cause of sudden death in hypertrophic cardiomyopathy.&lt;/strong&gt; Lancet 308: 937-940, 1976. Note: Originally Volume II.">Goodwin and Krikler (1976)</a>; <a href="#Hardarson1973" class="mim-tip-reference" title="Hardarson, T., Curiel, R., de la Calzada, C. S., Goodwin, J. F. &lt;strong&gt;Prognosis and mortality of hypertrophic obstructive cardiomyopathy.&lt;/strong&gt; Lancet 302: 1462-1467, 1973. Note: Originally Volume II.">Hardarson et al.
(1973)</a>; <a href="#Haugland1986" class="mim-tip-reference" title="Haugland, H., Ohm, O.-J., Boman, H., Thorsby, E. &lt;strong&gt;Hypertrophic cardiomyopathy in three generations of a large Norwegian family: a clinical, echocardiographic, and genetic study.&lt;/strong&gt; Brit. Heart J. 55: 168-175, 1986.">Haugland et al. (1986)</a>; <a href="#Henry1973" class="mim-tip-reference" title="Henry, W. L., Clark, C. E., Epstein, S. E. &lt;strong&gt;Asymmetric septal hypertrophy (ASH): the unifying link in the IHSS disease spectrum--observations regarding its pathogenesis, pathophysiology and course.&lt;/strong&gt; Circulation 47: 827-832, 1973.">Henry et al. (1973)</a>; <a href="#Jeschke1998" class="mim-tip-reference" title="Jeschke, B., Uhl, K., Weist, B., Schroder, D., Meitinger, T., Dohlemann, C., Vosberg, H.-P. &lt;strong&gt;A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.&lt;/strong&gt; Hum. Genet. 102: 299-304, 1998.">Jeschke et al.
(1998)</a>; <a href="#Manchester1963" class="mim-tip-reference" title="Manchester, G. H. &lt;strong&gt;Muscular subaortic stenosis.&lt;/strong&gt; New Eng. J. Med. 269: 300-306, 1963.">Manchester (1963)</a>; <a href="#Masuya1982" class="mim-tip-reference" title="Masuya, K., Murakami, E., Takekoshi, N., Matsui, S., Murakami, H., Nomura, M., Fujita, S., Tsuji, S., Chadani, T., Emoto, J., Tsugawa, H., Hashimoto, A., Noumi, I. &lt;strong&gt;Hypertrophic cardiomyopathy in two elderly siblings.&lt;/strong&gt; Jpn. Heart J. 23: 253-262, 1982.">Masuya et al. (1982)</a>; <a href="#Powell1973" class="mim-tip-reference" title="Powell, W. J., Whiting, R. B., Dinsmore, R. E., Sanders, C. A. &lt;strong&gt;Symptomatic prognosis in patients with idiopathic hypertrophic subaortic stenosis (IHSS).&lt;/strong&gt; Am. J. Med. 55: 15-24, 1973.">Powell et al.
(1973)</a>; <a href="#Smith1976" class="mim-tip-reference" title="Smith, E. R., Heffernan, L. P., Sangalang, V. E., Vaughan, L. M., Flemington, C. S. &lt;strong&gt;Voluntary muscle involvement in hypertrophic cardiomyopathy: a study of eleven patients.&lt;/strong&gt; Ann. Intern. Med. 85: 566-572, 1976.">Smith et al. (1976)</a>; <a href="#Solomon1990" class="mim-tip-reference" title="Solomon, S. D., Jarcho, J. A., McKenna, W., Geisterfer-Lowrance, A., Germain, R., Salerni, R., Seidman, J. G., Seidman, C. E. &lt;strong&gt;Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease.&lt;/strong&gt; J. Clin. Invest. 86: 993-999, 1990.">Solomon et al. (1990)</a>; <a href="#Wei1980" class="mim-tip-reference" title="Wei, J. Y., Weiss, J. L., Bulkley, B. H. &lt;strong&gt;The heterogeneity of hypertrophic cardiomyopathy: an autopsy and one dimensional echocardiographic study.&lt;/strong&gt; Am. J. Cardiol. 45: 24-32, 1980.">Wei et al.
(1980)</a>; <a href="#Wood1962" class="mim-tip-reference" title="Wood, R. S., Taylor, W. J., Wheat, M. W., Schiebler, G. L. &lt;strong&gt;Muscular subaortic stenosis in childhood: report of occurrence in three siblings.&lt;/strong&gt; Pediatrics 30: 749-758, 1962.">Wood et al. (1962)</a>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Abchee1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Abchee, A., Marian, A. J.
<strong>Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy.</strong>
J. Investig. Med. 45: 191-196, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9154300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9154300</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9154300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Arad2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E.
<strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong>
Circulation 112: 2805-2811, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16267253/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16267253</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16267253" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.547448" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Arad2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Arad, M., Seidman, J. G., Seidman, C. E.
<strong>Phenotypic diversity in hypertrophic cardiomyopathy.</strong>
Hum. Molec. Genet. 11: 2499-2506, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12351586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12351586</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12351586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/11.20.2499" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Atiga2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Atiga, W. L., Fananapazir, L., McAreavey, D., Calkins, H., Berger, R. D.
<strong>Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.</strong>
Circulation 101: 1237-1242, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10725281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10725281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10725281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.101.11.1237" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Bingle1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bingle, G. J., Dillon, J., Hurwitz, R.
<strong>Asymmetric septal hypertrophy in a large Amish kindred.</strong>
Clin. Genet. 7: 255-261, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1139794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1139794</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1139794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1975.tb00327.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Blair2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Blair, E., Price, S. J., Baty, C. J., Ostman-Smith, I., Watkins, H.
<strong>Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. (Letter)</strong>
J. Med. Genet. 38: 385-387, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11424919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11424919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11424919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.38.6.385" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Branzi1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Branzi, A., Romeo, G., Specchia, S., Lolli, C., Binetti, G., Devoto, M., Bacchi, M., Magnani, B.
<strong>Genetic heterogeneity of hypertrophic cardiomyopathy.</strong>
Int. J. Cardiol. 7: 129-133, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4038691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4038691</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4038691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0167-5273(85)90352-3" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Braunwald1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Braunwald, E., Lambrew, C. T., Rockoff, S. D., Ross, J., Jr., Morrow, A. G.
<strong>Idiopathic hypertrophic subaortic stenosis. I. A description of the disease based on an analysis of 64 patients.</strong>
Circulation 30 (suppl. 4): 3-119, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14227306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14227306</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14227306" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.29.5s4.iv-3" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Bulkley1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bulkley, B. H., Weisfeldt, M. L., Hutchins, G. M.
<strong>Isometric cardiac contraction: a possible cause of the disorganized myocardial pattern of idiopathic hypertrophic subaortic stenosis.</strong>
New Eng. J. Med. 296: 135-139, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/556638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">556638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=556638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM197701202960303" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Burn1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Burn, J.
<strong>The genetics of hypertrophic cardiomyopathy. (Editorial)</strong>
Int. J. Cardiol. 7: 135-138, 1985.
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Cannon2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cannon, R. O., III.
<strong>Assessing risk in hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 349: 1016-1018, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12968084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12968084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12968084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMp038122" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Chiu2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chiu, C., Tebo, M., Ingles, J., Yeates, L., Arthur, J. W., Lind, J. M., Semsarian, C.
<strong>Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.</strong>
J. Molec. Cell. Cardiol. 43: 337-343, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17655857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17655857</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17655857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.yjmcc.2007.06.009" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Ciro1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ciro, E., Nichols, P. F., Maron, B. J.
<strong>Heterogeneous morphologic expression of genetically transmitted hypertrophic cardiomyopathy: two-dimensional echocardiographic analysis.</strong>
Circulation 67: 1227-1233, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6682724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6682724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6682724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.67.6.1227" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Clark1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Clark, C. E., Henry, W. L., Epstein, S. E.
<strong>Familial prevalence and genetic transmission of idiopathic hypertrophic subaortic stenosis.</strong>
New Eng. J. Med. 289: 709-714, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4737963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4737963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4737963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM197310042891402" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Clarke1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Clarke, A., Harper, P.
<strong>Genetic testing for hypertrophic cardiomyopathy. (Letter)</strong>
New Eng. J. Med. 327: 1175-1176, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528221</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1528221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM199210153271616" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Criley1965" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Criley, J. M., Lewis, K. B., White, R. I., Jr., Ross, R. S.
<strong>Pressure gradients without obstruction: a new concept of 'hypertrophic subaortic stenosis.'.</strong>
Circulation 32: 881-887, 1965.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5845247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5845247</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5845247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.32.6.881" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Darsee1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Darsee, J. R., Heymsfield, S. B., Nutter, D. O.
<strong>Hypertrophic cardiomyopathy and human leukocyte antigen linkage: differentiation of two forms of hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 300: 877-882, 1979. Note: Retraction: Nutter, Heymsfield, and Glenn, New Eng. J. Med. 308: 1400 only, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/370596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">370596</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=370596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM197904193001602" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Darsee1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Darsee, J. R., Heymsfield, S. B.
<strong>Decreased myocardial taurine levels and hypertaurinuria in a kindred with mitral-valve prolapse and congestive cardiomyopathy.</strong>
New Eng. J. Med. 304: 129-135, 1981. Note: Retraction: Heymsfield and Glenn, New Eng. J. Med. 308: 1400 only, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7003386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7003386</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7003386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM198101153040301" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Das2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Das, J., Ingles, J., Bagnall, R. D., Semsarian, C.
<strong>Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.</strong>
Genet. Med. 16: 286-293, 2014. Note: Erratum: Genet. Med. 21: 1264 only, 2019.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24113344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24113344</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24113344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/gim.2013.138" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Donis-Keller1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Donis-Keller, H., Green, P., Helms, C., Cartinhour, S., Weiffenbach, B., Stephens, K., Keith, T. P., Bowden, D. W., Smith, D. R., Lander, E. S., Botstein, D., Akots, G., and 21 others.
<strong>A genetic linkage map of the human genome.</strong>
Cell 51: 319-337, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3664638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3664638</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3664638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0092-8674(87)90158-9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Emanuel1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Emanuel, R., Withers, R., O'Brien, K.
<strong>Dominant and recessive modes of inheritance in idiopathic cardiomyopathy.</strong>
Lancet 298: 1065-1067, 1971. Note: Originally Volume II.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4106916/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4106916</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4106916" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(71)90383-7" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Epstein1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Epstein, N. D., Fananapazir, L., Lin, H. J., Mulvihill, J., White, R., Lalouel, J.-M., Lifton, R. P., Nienhuis, A. W., Leppert, M.
<strong>Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy.</strong>
Circulation 85: 635-647, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1735158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1735158</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1735158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.85.2.635" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Erdmann2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Erdmann, J., Daehmlow, S., Wischke, S., Senyuva, M., Werner, U., Raible, J., Tanis, N., Dyachenko, S., Hummel, M., Hetzer, R., Regitz-Zagrosek, V.
<strong>Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.</strong>
Clin. Genet. 64: 339-349, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12974739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12974739</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12974739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1034/j.1399-0004.2003.00151.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Fananapazir1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fananapazir, L., Dalakas, M. C., Cyran, F., Cohn, G., Epstein, N. D.
<strong>Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.</strong>
Proc. Nat. Acad. Sci. 90: 3993-3997, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8483915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8483915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8483915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.90.9.3993" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Ferraro1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ferraro, M., Scarton, G., Ambrosini, M.
<strong>Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family.</strong>
J. Med. Genet. 27: 363-366, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2359098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2359098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2359098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.27.6.363" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Frazier2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Frazier, A., Judge, D. P., Schulman, S. P., Johnson, N., Holmes, K. W., Murphy, A. M.
<strong>Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.</strong>
Pediat. Cardiol. 29: 846-850, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18175163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18175163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18175163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00246-007-9177-9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Friddle2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Friddle, C. J., Koga, T., Rubin, E. M., Bristow, J.
<strong>Expression profiling reveals distinct sets of genes altered during induction and regression of cardiac hypertrophy.</strong>
Proc. Nat. Acad. Sci. 97: 6745-6750, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10829065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10829065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10829065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10829065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.100127897" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Gardin1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gardin, J. M., Gottdiener, J. S., Radvany, R., Maron, B. J., Lesch, M.
<strong>HLA linkage vs association in hypertrophic cardiomyopathy: evidence for the absence of an association in a heterogeneous Caucasian population.</strong>
Chest 81: 466-472, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7200000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7200000</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7200000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1378/chest.81.4.466" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="Geisterfer-Lowrance1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., Seidman, J. G.
<strong>A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.</strong>
Cell 62: 999-1006, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0092-8674(90)90274-i" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Goodwin1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goodwin, J. F., Krikler, D. M.
<strong>Arrhythmia as a cause of sudden death in hypertrophic cardiomyopathy.</strong>
Lancet 308: 937-940, 1976. Note: Originally Volume II.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/62166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">62166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=62166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(76)90896-5" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Greaves1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greaves, S. C., Roche, A. H. G., Neutze, J. M., Whitlock, R. M. L., Veale, A. M. O.
<strong>Inheritance of hypertrophic cardiomyopathy: a cross sectional and M mode echocardiographic study of 50 families.</strong>
Brit. Heart J. 58: 259-266, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3663427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3663427</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3663427" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/hrt.58.3.259" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="32" class="mim-anchor"></a>
<a id="Hardarson1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hardarson, T., Curiel, R., de la Calzada, C. S., Goodwin, J. F.
<strong>Prognosis and mortality of hypertrophic obstructive cardiomyopathy.</strong>
Lancet 302: 1462-1467, 1973. Note: Originally Volume II.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4129311/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4129311</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4129311" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0140-6736(73)92730-x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="33" class="mim-anchor"></a>
<a id="Haugland1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Haugland, H., Ohm, O.-J., Boman, H., Thorsby, E.
<strong>Hypertrophic cardiomyopathy in three generations of a large Norwegian family: a clinical, echocardiographic, and genetic study.</strong>
Brit. Heart J. 55: 168-175, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3942651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3942651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3942651" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/hrt.55.2.168" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="34" class="mim-anchor"></a>
<a id="Hejtmancik1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hejtmancik, J. F., Brink, P. A., Towbin, J., Hill, R., Brink, L., Tapscott, T., Trakhtenbroit, A., Roberts, R.
<strong>Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse U.S. population.</strong>
Circulation 83: 1592-1597, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2022018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2022018</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2022018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.83.5.1592" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="35" class="mim-anchor"></a>
<a id="Hengstenberg1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hengstenberg, C., Charron, P., Beckmann, J. S., Weissenbach, J., Isnard, R., Komajda, M., Schwartz, K.
<strong>Evidence for the existence of a fifth gene causing familial hypertrophic cardiomyopathy. (Abstract)</strong>
Am. J. Hum. Genet. 53 (suppl.): A1013 only, 1993.
</p>
</div>
</li>
<li>
<a id="36" class="mim-anchor"></a>
<a id="Hengstenberg1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hengstenberg, C., Charron, P., Isnard, R., Beckmann, J. S., Fetler, L., Desnos, M., Hagege, A., Bouhour, J. B., Souriant, G., Dubourg, O., Schwartz, K., Komajda, M.
<strong>Mise en evidence d'un cinquieme locus implique dans les cardiomyopathies hypertrophiques familiales.</strong>
Arch. Mal. Coeur. 87: 1655-1662, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7786104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7786104</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7786104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="37" class="mim-anchor"></a>
<a id="Henry1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Henry, W. L., Clark, C. E., Epstein, S. E.
<strong>Asymmetric septal hypertrophy (ASH): the unifying link in the IHSS disease spectrum--observations regarding its pathogenesis, pathophysiology and course.</strong>
Circulation 47: 827-832, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4266759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4266759</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4266759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.47.4.827" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="38" class="mim-anchor"></a>
<a id="Ho2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ho, C. Y., Sweitzer, N. K., McDonough, B., Maron, B. J., Casey, S. A., Seidman, J. G., Seidman, C. E., Solomon, S. D.
<strong>Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.</strong>
Circulation 105: 2992-2997, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12081993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12081993</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12081993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.0000019070.70491.6d" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="39" class="mim-anchor"></a>
<a id="Horlick1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Horlick, L., Petkovich, N. J., Bolton, C. F.
<strong>Idiopathic hypertrophic subvalvular stenosis. A study of a family involving four generations. Clinical, hemodynamic and pathologic observations.</strong>
Am. J. Cardiol. 17: 411-418, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5948580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5948580</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5948580" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9149(66)90224-4" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="40" class="mim-anchor"></a>
<a id="Ingles2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ingles, J., Doolan, A., Chiu, C., Seidman, J., Seidman, C., Semsarian, C.
<strong>Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.</strong>
J. Med. Genet. 42: e59, 2005. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16199542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16199542</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16199542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2005.033886" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="41" class="mim-anchor"></a>
<a id="Ingles2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ingles, J., Sarina, T., Yeates, L., Hunt, L., Macciocca, I., McCormack, L., Winship, I., McGaughran, J., Atherton, J., Semsarian, C.
<strong>Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy.</strong>
Genet. Med. 15: 972-977, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23598715/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23598715</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23598715" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/gim.2013.44" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="42" class="mim-anchor"></a>
<a id="Jarcho1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jarcho, J. A., McKenna, W., Pare, J. A. P., Solomon, S. D., Holcombe, R. F., Dickie, S., Levi, T., Donis-Keller, H., Seidman, J. G., Seidman, C. E.
<strong>Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.</strong>
New Eng. J. Med. 321: 1372-1378, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2811944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2811944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2811944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM198911163212005" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="43" class="mim-anchor"></a>
<a id="Jeschke1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jeschke, B., Uhl, K., Weist, B., Schroder, D., Meitinger, T., Dohlemann, C., Vosberg, H.-P.
<strong>A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.</strong>
Hum. Genet. 102: 299-304, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9544842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9544842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9544842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s004390050695" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="44" class="mim-anchor"></a>
<a id="Jorgensen1968" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jorgensen, G.
<strong>Genetische Untersuchungen bei funktionell-obstruktiver subvalvulaerer Aortenstenose (irregulaer hypertrophische Kardiomyopathie).</strong>
Humangenetik 6: 13-28, 1968.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5749048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5749048</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5749048" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00287150" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="45" class="mim-anchor"></a>
<a id="Klaassen2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L.
<strong>Mutations in sarcomere protein genes in left ventricular noncompaction.</strong>
Circulation 117: 2893-2901, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18506004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18506004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18506004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.746164" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="46" class="mim-anchor"></a>
<a id="Ko1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ko, Y.-L., Lien, W.-P., Chen, J.-J., Wu, C.-W., Tang, T.-K., Liew, C.-C.
<strong>No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a Chinese family: evidence for genetic heterogeneity.</strong>
Hum. Genet. 89: 597-601, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1511975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1511975</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1511975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00221945" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="47" class="mim-anchor"></a>
<a id="Liberthson1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Liberthson, R. R.
<strong>Sudden death from cardiac causes in children and young adults.</strong>
New Eng. J. Med. 334: 1039-1044, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8598843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8598843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8598843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM199604183341607" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="48" class="mim-anchor"></a>
<a id="Malouf1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Malouf, J., Ratl, H., Der Kaloustian, V. M.
<strong>Apical hypertrophic cardiomyopathy in a father and daughter.</strong>
Am. J. Med. Genet. 22: 75-80, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2931982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2931982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2931982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320220108" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="49" class="mim-anchor"></a>
<a id="Manchester1963" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Manchester, G. H.
<strong>Muscular subaortic stenosis.</strong>
New Eng. J. Med. 269: 300-306, 1963.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13932709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13932709</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13932709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM196308082690606" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="50" class="mim-anchor"></a>
<a id="Maron1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maron, B. J., Bonow, R. O., Cannon, R. O., III, Leon, M. B., Epstein, S. E.
<strong>Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology, and therapy.</strong>
New Eng. J. Med. 316: 780-789, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3547130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3547130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3547130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM198703263161305" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="51" class="mim-anchor"></a>
<a id="Maron1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maron, B. J., Bonow, R. O., Seshagiri, T. N. R., Roberts, W. C., Epstein, S. E.
<strong>Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy).</strong>
Am. J. Cardiol. 49: 1838-1848, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6211078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6211078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6211078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9149(82)90200-4" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="52" class="mim-anchor"></a>
<a id="Maron1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maron, B. J., Edwards, J. E., Henry, W. L., Clark, C. E., Bingle, G. J., Epstein, S. E.
<strong>Asymmetric septal hypertrophy (ASH) in infancy.</strong>
Circulation 50: 809-820, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4278818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4278818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4278818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.50.4.809" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="53" class="mim-anchor"></a>
<a id="Maron1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maron, B. J., Henry, W. L., Clark, C. E., Redwood, D. R., Roberts, W. C., Epstein, S. E.
<strong>Asymmetric septal hypertrophy in childhood.</strong>
Circulation 53: 9-19, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/942659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">942659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=942659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.53.1.9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="54" class="mim-anchor"></a>
<a id="Maron2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maron, B. J., Shen, W.-K., Link, M. S., Epstein, A. E., Almquist, A. K., Daubert, J. P., Bardy, G. H., Favale, S., Rea, R. F., Boriani, G., Estes, M., III, Spirito, P.
<strong>Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 342: 365-373, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10666426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10666426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10666426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM200002103420601" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="55" class="mim-anchor"></a>
<a id="Maron1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maron, B. J., Shirani, J., Poliac, L. C., Mathenge, R., Roberts, W. C., Mueller, F. O.
<strong>Sudden death in young competitive athletes: clinical, demographic, and pathological profiles.</strong>
JAMA 276: 199-204, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8667563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8667563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8667563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="56" class="mim-anchor"></a>
<a id="Maron2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maron, B. J.
<strong>Sudden death in young athletes.</strong>
New Eng. J. Med. 349: 1064-1075, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12968091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12968091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12968091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMra022783" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="57" class="mim-anchor"></a>
<a id="Masuya1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Masuya, K., Murakami, E., Takekoshi, N., Matsui, S., Murakami, H., Nomura, M., Fujita, S., Tsuji, S., Chadani, T., Emoto, J., Tsugawa, H., Hashimoto, A., Noumi, I.
<strong>Hypertrophic cardiomyopathy in two elderly siblings.</strong>
Jpn. Heart J. 23: 253-262, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7200541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7200541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7200541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1536/ihj.23.253" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="58" class="mim-anchor"></a>
<a id="Matsushita2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Matsushita, Y., Furukawa, T., Kasanuki, H., Nishibatake, M., Kurihara, Y., Ikeda, A., Kamatani, N., Takeshima, H., Matsuoka, R.
<strong>Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.</strong>
J. Hum. Genet. 52: 543-548, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17476457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17476457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17476457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10038-007-0149-y" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="59" class="mim-anchor"></a>
<a id="McKenna1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKenna, W. J., Oakley, C. M., Krikler, D. M., Goodwin, J. F.
<strong>Improved survival with amiodarone in patients with hypertrophic cardiomyopathy and ventricular tachycardia.</strong>
Brit. Heart J. 53: 412-416, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4039188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4039188</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4039188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/hrt.53.4.412" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="60" class="mim-anchor"></a>
<a id="McKenna1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKenna, W. J.
<strong>Personal Communication.</strong>
London, England 5/30/1993.
</p>
</div>
</li>
<li>
<a id="61" class="mim-anchor"></a>
<a id="Mitchell1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mitchell, A. L., Bale, A. E., Wang, M., Pirtle, R., McBride, O. W.
<strong>Localization of TCRA gene and LPT tRNA gene cluster on chromosome 14. (Abstract)</strong>
Cytogenet. Cell Genet. 51: 1045-1046, 1989.
</p>
</div>
</li>
<li>
<a id="62" class="mim-anchor"></a>
<a id="Mogensen2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mogensen, J., Andersen, P. S., Steffensen, U., Christiansen, M., Egeblad, H., Gregersen, N., Borglum, A. D.
<strong>Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy. (Letter)</strong>
J. Med. Genet. 38: 193-197, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11303515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11303515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11303515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.38.3.193" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="63" class="mim-anchor"></a>
<a id="Motulsky1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Motulsky, A. G.
<strong>The HLA complex and disease: some interpretations and new data in cardiomyopathy. (Editorial)</strong>
New Eng. J. Med. 300: 918-919, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/570641/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">570641</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=570641" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM197904193001610" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="64" class="mim-anchor"></a>
<a id="Nasser1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Nasser, W. K., Williams, J. F., Mishkin, M. E., Childress, R. H., Helmen, C., Merritt, A. D., Genovese, P. D.
<strong>Familial myocardial disease with and without obstruction to left ventricular outflow: clinical, hemodynamic and angiographic findings.</strong>
Circulation 35: 638-652, 1967.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6067233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6067233</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6067233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.cir.35.4.638" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="65" class="mim-anchor"></a>
<a id="Ostman-Smith1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ostman-Smith, I., Wettrell, G., Riesenfeld, T. A.
<strong>A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoceptor antagonist treatment.</strong>
J. Am. Coll. Cardiol. 34: 1813-1822, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10577575/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10577575</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10577575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0735-1097(99)00421-0" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="66" class="mim-anchor"></a>
<a id="Pare1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pare, J. A. P., Fraser, R. G., Pirozynski, W. J., Shanks, J. A., Stubington, D.
<strong>Hereditary cardiovascular dysplasia: a form of familial cardiomyopathy.</strong>
Am. J. Med. 31: 37-62, 1961.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13732753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13732753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13732753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9343(61)90222-4" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="67" class="mim-anchor"></a>
<a id="Powell1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Powell, W. J., Whiting, R. B., Dinsmore, R. E., Sanders, C. A.
<strong>Symptomatic prognosis in patients with idiopathic hypertrophic subaortic stenosis (IHSS).</strong>
Am. J. Med. 55: 15-24, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4197692/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4197692</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4197692" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9343(73)90145-9" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="68" class="mim-anchor"></a>
<a id="Richard2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Richard, P., Charron, P., Carrier, L., Ledeuil, C., Cheav, T., Pichereau, C., Benaiche, A., Isnard, R., Dubourg, O., Burban, M., Gueffet, J.-P., Millaire, A., Desnos, M., Schwartz, K., Hainque, B., Komajda, M.
<strong>Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.</strong>
Circulation 107: 2227-2232, 2003. Note: Erratum: Circulation 109: 3258 only, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12707239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12707239</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12707239" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.CIR.0000066323.15244.54" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="69" class="mim-anchor"></a>
<a id="Richard1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Richard, P., Isnard, R., Carrier, L., Dubourg, O., Donatien, Y., Mathieu, B., Bonne, G., Gary, F., Charron, P., Hagege, A., Komajda, M., Schwartz, K., Hainque, B.
<strong>Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.</strong>
J. Med. Genet. 36: 542-545, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10424815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10424815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10424815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="70" class="mim-anchor"></a>
<a id="Rosenzweig1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rosenzweig, A., Watkins, H., Hwang, D.-S., Miri, M., McKenna, W., Traill, T. A., Seidman, J. G., Seidman, C. E.
<strong>Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes.</strong>
New Eng. J. Med. 325: 1753-1760, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1944483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1944483</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1944483" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM199112193252501" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="71" class="mim-anchor"></a>
<a id="Ross1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ross, R. S., Knowlton, K. U.
<strong>Two brothers with unexplained cardiomegaly: initial clues to the molecular basis of a hereditary cardiac disease.</strong>
Trends Cardiovasc. Med. 2: 2-5, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21239280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21239280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21239280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/1050-1738(92)90036-R" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="72" class="mim-anchor"></a>
<a id="Seidman2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Seidman, C.
<strong>Hypertrophic cardiomyopathy: from man to mouse.</strong>
J. Clin. Invest. 106: S9-S13, 2000.
</p>
</div>
</li>
<li>
<a id="73" class="mim-anchor"></a>
<a id="Seidman2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Seidman, J. G., Seidman, C.
<strong>The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms.</strong>
Cell 104: 557-567, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11239412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11239412</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11239412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0092-8674(01)00242-2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="74" class="mim-anchor"></a>
<a id="Smith1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Smith, E. R., Heffernan, L. P., Sangalang, V. E., Vaughan, L. M., Flemington, C. S.
<strong>Voluntary muscle involvement in hypertrophic cardiomyopathy: a study of eleven patients.</strong>
Ann. Intern. Med. 85: 566-572, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/988769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">988769</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=988769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.7326/0003-4819-85-5-566" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="75" class="mim-anchor"></a>
<a id="Solomon1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Solomon, S. D., Geisterfer-Lowrance, A. A. T., Vosberg, H.-P., Hiller, G., Jarcho, J. A., Morton, C. C., McBride, W. O., Mitchell, A. L., Bale, A. E., McKenna, W. J., Seidman, J. G., Seidman, C. E.
<strong>A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12.</strong>
Am. J. Hum. Genet. 47: 389-394, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="76" class="mim-anchor"></a>
<a id="Solomon1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Solomon, S. D., Jarcho, J. A., McKenna, W., Geisterfer-Lowrance, A., Germain, R., Salerni, R., Seidman, J. G., Seidman, C. E.
<strong>Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease.</strong>
J. Clin. Invest. 86: 993-999, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1172/JCI114802" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="77" class="mim-anchor"></a>
<a id="Spirito2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spirito, P., Bellone, P., Harris, K. M., Bernabo, P., Bruzzi, P., Maron, B. J.
<strong>Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 342: 1778-1785, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10853000/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10853000</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10853000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM200006153422403" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="78" class="mim-anchor"></a>
<a id="Spirito1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spirito, P., Chiarella, F., Carratino, L., Berisso, M. Z., Bellotti, P., Vecchio, C.
<strong>Clinical course and prognosis of hypertrophic cardiomyopathy in an outpatient population.</strong>
New Eng. J. Med. 320: 749-755, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2646539/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2646539</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2646539" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM198903233201201" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="79" class="mim-anchor"></a>
<a id="Spirito1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spirito, P., Seidman, C. E., McKenna, W. J., Maron, B. J.
<strong>The management of hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 336: 775-782, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9052657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9052657</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9052657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM199703133361107" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="80" class="mim-anchor"></a>
<a id="Teare1958" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Teare, D.
<strong>Asymmetrical hypertrophy of the heart in young adults.</strong>
Brit. Heart J. 20: 1-8, 1958.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13499764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13499764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13499764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/hrt.20.1.1" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="81" class="mim-anchor"></a>
<a id="Theis2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Theis, J. L., Bos, J. M., Bartleson, V. B., Will, M. L., Binder, J., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J.
<strong>Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.</strong>
Biochem. Biophys. Res. Commun. 351: 896-902, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17097056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17097056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17097056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.bbrc.2006.10.119" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="82" class="mim-anchor"></a>
<a id="Tsybouleva2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tsybouleva, N., Zhang, L., Chen, S., Patel, R., Lutucuta, S., Nemoto, S., DeFreitas, G., Entman, M., Carabello, B. A., Roberts, R., Marian, A. J.
<strong>Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and cardiac phenotype of hypertrophic cardiomyopathy.</strong>
Circulation 109: 1284-1291, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14993121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14993121</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14993121[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14993121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.CIR.0000121426.43044.2B" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="83" class="mim-anchor"></a>
<a id="Uro-Coste2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Uro-Coste, E., Arne-Bes, M.-C., Pellissier, J.-F., Richard, P., Levade, T., Heitz, F., Figarella-Branger, D., Delisle, M.-B.
<strong>Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 leu1793pro mutation.</strong>
Neuromusc. Disord. 19: 163-166, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19138847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19138847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19138847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.nmd.2008.11.012" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="84" class="mim-anchor"></a>
<a id="Van Driest2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Van Driest, S. L., Vasile, V. C., Ommen, S. R., Will, M. L., Tajik, A. J., Gersh, B. J., Ackerman, M. J.
<strong>Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.</strong>
J. Am. Coll. Cardiol. 44: 1903-1910, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15519027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15519027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15519027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.jacc.2004.07.045" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="85" class="mim-anchor"></a>
<a id="Verhagen2018" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Verhagen, J. M. A., Veldman, J. H., van der Zwaag, P. A., von der Thusen,, J. H., Brosens, E., Christiaans, I., Dooijes, D., Helderman-van den Enden, A. T. J. M., Lekanne Deprez, R. H., Michels, M., van Mil, A. M., Oldenburg, R. A., van der Smagt, J. J., van den Wijngaard, A., Wessels, M. W., Hofstra, R. M. W., van Slegtenhorst, M. A., Jongbloed, J. D. H., van de Laar, I. M. B. H.
<strong>Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.</strong>
Europ J. Hum. Genet. 26: 1603-1610, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29988065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29988065</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29988065[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29988065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/s41431-018-0208-1" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="86" class="mim-anchor"></a>
<a id="Wagner1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wagner, J. A., Sax, F. L., Weisman, H. F., Porterfield, J., McIntosh, C., Weisfeldt, M. L., Snyder, S. H., Epstein, S. E.
<strong>Calcium-antagonist receptors in the atrial tissue of patients with hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 320: 755-761, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2537929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2537929</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2537929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM198903233201202" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="87" class="mim-anchor"></a>
<a id="Walsh2022" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Walsh, R., Offerhaus, J. A., Tadros, R., Bezzina, C. R.
<strong>Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.</strong>
Nature Rev. Cardiol. 19: 151-167, 2022.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34526680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34526680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34526680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/s41569-021-00608-2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="88" class="mim-anchor"></a>
<a id="Watkins1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Watkins, H., Rosenzweig, A., Hwang, D.-S., Levi, T., McKenna, W., Seidman, C. E., Seidman, J. G.
<strong>Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 326: 1108-1114, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1552912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM199204233261703" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="89" class="mim-anchor"></a>
<a id="Watkins1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Watkins, H., Seidman, J. G., Seidman, C. E.
<strong>Genetic testing for hypertrophic cardiomyopathy. (Letter)</strong>
New Eng. J. Med. 327: 1176, 1992.
</p>
</div>
</li>
<li>
<a id="90" class="mim-anchor"></a>
<a id="Watkins2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Watkins, H.
<strong>Sudden death in hypertrophic cardiomyopathy. (Editorial)</strong>
New Eng. J. Med. 342: 422-424, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10666434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10666434</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10666434" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM200002103420609" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="91" class="mim-anchor"></a>
<a id="Wei1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wei, J. Y., Weiss, J. L., Bulkley, B. H.
<strong>The heterogeneity of hypertrophic cardiomyopathy: an autopsy and one dimensional echocardiographic study.</strong>
Am. J. Cardiol. 45: 24-32, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7188653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7188653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7188653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9149(80)90215-5" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="92" class="mim-anchor"></a>
<a id="Wilson1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wilson, R., Gibson, T. C., Terrien, C. M., Jr., Levy, A. M.
<strong>Hyperthyroidism and familial hypertrophic cardiomyopathy.</strong>
Arch. Intern. Med. 143: 378-380, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6824408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6824408</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6824408" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="93" class="mim-anchor"></a>
<a id="Wood1962" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wood, R. S., Taylor, W. J., Wheat, M. W., Schiebler, G. L.
<strong>Muscular subaortic stenosis in childhood: report of occurrence in three siblings.</strong>
Pediatrics 30: 749-758, 1962.
</p>
</div>
</li>
<li>
<a id="94" class="mim-anchor"></a>
<a id="Yamaguchi1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yamaguchi, H., Ishimura, T., Nishiyama, S., Nagasaki, F., Nakanishi, S., Takatsu, F., Nishijo, T., Umeda, T., Machii, K.
<strong>Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients.</strong>
Am. J. Cardiol. 44: 401-412, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/573056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">573056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=573056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9149(79)90388-6" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="95" class="mim-anchor"></a>
<a id="Yetman1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yetman, A. T., McCrindle, B. W., MacDonald, C., Freedom, R. M., Gow, R.
<strong>Myocardial bridging in children with hypertrophic cardiomyopathy--a risk factor for sudden death.</strong>
New Eng. J. Med. 339: 1201-1209, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9780340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9780340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9780340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM199810223391704" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Ada Hamosh - updated : 11/19/2018
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Marla J. F. O'Neill - updated : 07/21/2016<br>Marla J. F. O'Neill - updated : 4/21/2015<br>Ada Hamosh - updated : 4/28/2014<br>Ada Hamosh - updated : 1/8/2014<br>Marla J. F. O'Neill - updated : 9/4/2013<br>Marla J. F. O'Neill - updated : 4/6/2011<br>Marla J. F. O'Neill - updated : 3/25/2011<br>Marla J. F. O'Neill - updated : 6/7/2010<br>Marla J. F. O'Neill - updated : 5/11/2010<br>Marla J. F. O'Neill - updated : 6/24/2008<br>Marla J. F. O'Neill - updated : 6/4/2008<br>Marla J. F. O'Neill - updated : 12/4/2007<br>Marla J. F. O'Neill - updated : 1/18/2006<br>Carol A. Bocchini - updated : 8/12/2005<br>Marla J. F. O'Neill - updated : 7/8/2004<br>George E. Tiller - updated : 12/10/2003<br>Victor A. McKusick - updated : 11/18/2003<br>Victor A. McKusick - updated : 11/4/2003<br>Victor A. McKusick - updated : 5/9/2003<br>Victor A. McKusick - updated : 3/19/2003<br>Victor A. McKusick - updated : 11/7/2002<br>Victor A. McKusick - updated : 8/22/2002<br>Paul Brennan - updated : 8/7/2002<br>Michael J. Wright - updated : 7/26/2002<br>Michael J. Wright - updated : 6/28/2002<br>Victor A. McKusick - updated : 8/7/2000<br>Victor A. McKusick - updated : 7/14/2000<br>Paul Brennan - updated : 4/10/2000<br>Victor A. McKusick - updated : 2/15/2000<br>Victor A. McKusick - updated : 12/2/1998<br>Victor A. McKusick - updated : 5/9/1997
</span>
</div>
</div>
</div>
<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/2/1986
</span>
</div>
</div>
</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 11/07/2024
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 07/16/2024<br>alopez : 02/22/2024<br>alopez : 03/08/2023<br>ckniffin : 03/08/2023<br>carol : 02/03/2023<br>alopez : 02/01/2023<br>carol : 02/25/2022<br>carol : 10/19/2021<br>alopez : 06/25/2021<br>carol : 05/24/2021<br>carol : 10/07/2019<br>carol : 08/07/2019<br>carol : 11/20/2018<br>carol : 11/19/2018<br>alopez : 07/12/2018<br>carol : 01/08/2018<br>joanna : 08/04/2016<br>carol : 07/21/2016<br>carol : 07/14/2016<br>carol : 6/9/2015<br>ckniffin : 6/2/2015<br>carol : 4/21/2015<br>carol : 4/21/2015<br>alopez : 4/28/2014<br>carol : 3/19/2014<br>alopez : 1/8/2014<br>carol : 10/8/2013<br>mgross : 10/4/2013<br>carol : 9/4/2013<br>carol : 5/24/2013<br>carol : 2/14/2013<br>carol : 6/6/2012<br>terry : 4/26/2011<br>terry : 4/25/2011<br>carol : 4/22/2011<br>wwang : 4/8/2011<br>terry : 4/7/2011<br>terry : 4/7/2011<br>terry : 4/6/2011<br>carol : 3/25/2011<br>terry : 3/25/2011<br>alopez : 1/14/2011<br>carol : 6/8/2010<br>carol : 6/7/2010<br>carol : 6/3/2010<br>wwang : 5/17/2010<br>wwang : 5/12/2010<br>terry : 5/11/2010<br>wwang : 2/16/2010<br>wwang : 2/15/2010<br>carol : 2/4/2010<br>wwang : 2/3/2010<br>wwang : 6/25/2009<br>terry : 6/3/2009<br>terry : 2/10/2009<br>carol : 9/8/2008<br>wwang : 7/14/2008<br>wwang : 6/24/2008<br>carol : 6/4/2008<br>terry : 6/4/2008<br>carol : 12/4/2007<br>terry : 12/4/2007<br>joanna : 2/24/2006<br>alopez : 2/16/2006<br>terry : 2/15/2006<br>wwang : 1/18/2006<br>carol : 8/12/2005<br>carol : 5/9/2005<br>joanna : 3/14/2005<br>carol : 7/8/2004<br>terry : 7/8/2004<br>carol : 6/16/2004<br>carol : 3/30/2004<br>mgross : 12/10/2003<br>mgross : 12/10/2003<br>alopez : 11/18/2003<br>terry : 11/11/2003<br>tkritzer : 11/10/2003<br>tkritzer : 11/6/2003<br>terry : 11/4/2003<br>carol : 5/9/2003<br>terry : 5/9/2003<br>terry : 3/19/2003<br>joanna : 3/4/2003<br>carol : 11/8/2002<br>terry : 11/7/2002<br>carol : 8/23/2002<br>terry : 8/22/2002<br>alopez : 8/7/2002<br>tkritzer : 8/2/2002<br>tkritzer : 8/2/2002<br>tkritzer : 8/1/2002<br>terry : 7/26/2002<br>alopez : 6/28/2002<br>terry : 6/28/2002<br>alopez : 3/12/2002<br>alopez : 3/11/2002<br>alopez : 3/11/2002<br>alopez : 3/11/2002<br>alopez : 3/11/2002<br>mcapotos : 8/28/2000<br>mcapotos : 8/11/2000<br>terry : 8/7/2000<br>carol : 7/14/2000<br>terry : 7/14/2000<br>alopez : 4/12/2000<br>alopez : 4/10/2000<br>alopez : 3/22/2000<br>mcapotos : 2/18/2000<br>mcapotos : 2/18/2000<br>terry : 2/15/2000<br>mgross : 12/6/1999<br>mgross : 11/24/1999<br>terry : 12/11/1998<br>carol : 12/8/1998<br>terry : 12/2/1998<br>terry : 11/11/1997<br>terry : 11/10/1997<br>mark : 7/9/1997<br>alopez : 6/27/1997<br>alopez : 6/3/1997<br>alopez : 5/9/1997<br>alopez : 5/7/1997<br>jamie : 2/26/1997<br>jamie : 2/18/1997<br>jamie : 2/18/1997<br>mark : 8/15/1996<br>mark : 4/29/1996<br>terry : 4/24/1996<br>John : 11/14/1995<br>mimadm : 6/7/1995<br>pfoster : 3/30/1995<br>davew : 8/16/1994<br>carol : 5/11/1994<br>warfield : 3/29/1994
</span>
</div>
</div>
</div>
</div>
</div>
</div>
<div class="container visible-print-block">
<div class="row">
<div class="col-md-8 col-md-offset-1">
<div>
<div>
<h3>
<span class="mim-font">
<strong>#</strong> 192600
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CMH<br />
VENTRICULAR HYPERTROPHY, HEREDITARY<br />
ASYMMETRIC SEPTAL HYPERTROPHY; ASH<br />
HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 83978005; &nbsp;
<strong>ICD10CM:</strong> I42.1; &nbsp;
<strong>DO:</strong> 0110307; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
3p25.3
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, familial hypertrophic
</span>
</td>
<td>
<span class="mim-font">
192600
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant; Digenic dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
CAV3
</span>
</td>
<td>
<span class="mim-font">
601253
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
14q11.2
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, hypertrophic, 1
</span>
</td>
<td>
<span class="mim-font">
192600
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant; Digenic dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
MYH7
</span>
</td>
<td>
<span class="mim-font">
160760
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
20q11.21
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, hypertrophic, 1, digenic
</span>
</td>
<td>
<span class="mim-font">
192600
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant; Digenic dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
MYLK2
</span>
</td>
<td>
<span class="mim-font">
606566
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because hypertrophic cardiomyopathy-1 (CMH1) is caused by heterozygous mutation in the MYH7 gene (160760) on chromosome 14q11.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse.</p><p><strong><em>Reviews</em></strong></p><p>
Walsh et al. (2022) reviewed hypertrophic cardiomyopathy phenotypes associated with variation in genes encoding nonsarcomeric proteins. The authors suggested that these genes likely contribute to polygenic risk scores derived from genomewide association studies that could be used to improve risk assessment in patients and family members, and noted that the diverse functions of the proteins highlight novel disease pathways and therapeutic targets for cardiomyopathies. </p><p><strong><em>Genetic Heterogeneity of Hypertrophic Cardiomyopathy</em></strong></p><p>
Additional forms of hypertrophic cardiomyopathy include CMH2 (115195), caused by mutation in the TNNT2 gene (191045) on chromosome 1q32; CMH3 (115196), caused by mutation in the TPM1 gene (191010) on chromosome 15q22; CMH4 (115197), caused by mutation in the MYBPC3 gene (600958) on chromosome 11p11; CMH6 (600858), caused by mutation in the PRKAG2 gene (602743) on chromosome 7q36; CMH7 (613690), caused by mutation in the TNNI3 gene (191044) on chromosome 19q13; CMH8 (608751), caused by mutation in the MYL3 gene (160790) on chromosome 3p21; CMH9 (613765), caused by mutation in the TTN gene (188840) on chromosome 2q31; CMH10 (608758), caused by mutation in the MYL2 gene (160781) on chromosome 12q24; CMH11 (612098), caused by mutation in the ACTC1 gene (102540) on chromosome 15q14; CMH12 (612124), caused by mutation in the CSRP3 gene (600824) on chromosome 11p15; CMH13 (613243), caused by mutation in the TNNC1 gene (191040) on chromosome 3p21; CMH14 (613251), caused by mutation in the MYH6 gene (160710) on chromosome 14q12; CMH15 (613255), caused by mutation in the VCL gene (193065) on chromosome 10q22; CMH16 (613838), caused by mutation in the MYOZ2 gene (605602) on chromosome 4q26; CMH17 (613873), caused by mutation in the JPH2 gene (605267) on chromosome 20q12; CMH18 (613874), caused by mutation in the PLN gene (172405) on chromosome 6q22; CMH20 (613876), caused by mutation in the NEXN gene (613121) on chromosome 1p31; CMH21 (614676), mapped to chromosome 7p12.1-q21; CMH22 (see 615248), caused by mutation in the MYPN gene (608517) on chromosome 10q21; CMH23 (see 612158), caused by mutation in the ACTN2 gene (102573) on chromosome 1q43; CMH24 (see 601493), caused by mutation in the LDB3 gene (605906) on chromosome 10q23; CMH25 (607487), caused by mutation in the TCAP gene (604488) on chromosome 17q12; CMH26 (617047), caused by mutation in the FLNC gene (102565) on chromosome 7q32; CMH27 (618052), caused by mutation in the ALPK3 gene (617608) on chromosome 15q25; CMH28 (619402), caused by mutation in the FHOD3 gene (609691) on chromosome 18q12; and CMH29 (620236), caused by mutation in the KLHL24 gene (611295) on chromosome 3q27.</p><p>The CMH5 designation was initially assigned to a CMH family showing genetic heterogeneity. Subsequently, affected individuals were found to carry mutations in the MYH7 (CMH1) and/or MYBPC3 (CMH4) genes.</p><p>Mutations in the CALR3 gene (611414), previously suggested to cause a form of CMH (Chiu et al., 2007) designated CMH19, were convincingly shown not to be a monogenic cause of cardiomyopathy by Verhagen et al. (2018); see 611414.0001. </p><p>Hypertrophic cardiomyopathy has also been associated with mutation in the gene encoding cardiac myosin light-peptide kinase (MYLK2; see 606566.0001), which resides on chromosome 20q13.3; the gene encoding caveolin-3 (CAV3; see 601253.0013), which maps to chromosome 3p25; and with mutations in genes encoding mitochondrial tRNAs: see mitochondrial tRNA-glycine (MTTG; 590035) and mitochondrial tRNA-isoleucine (MTTI; 590045).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In the first demonstration of asymmetric hypertrophy of the heart in young adults, Teare (1958) reported the autopsy findings in 9 cases of sudden death in young subjects distributed in 6 families. This condition has been called muscular subaortic stenosis but more generalized ventricular hypertrophy is often an earlier and more impressive feature, and obstruction to outflow from the right ventricle can also occur. Study of the families of probands with the full-blown condition shows that an atrial heart sound ('presystolic gallop') and EKG changes of ventricular hypertrophy are the earliest signs. Sudden death occurs in some cases. Braunwald et al. (1964) reported in detail on 64 patients; multiple cases were observed in 11 families, which contained in all at least 41 definite or probable cases. As pointed out by Nasser et al. (1967), outflow obstruction may be absent in some affected members of families in which others do have outflow obstruction. Maron et al. (1974) studied 4 infants that died with ASH in the first 5 months of life, including 1 stillborn. ASH was demonstrated in one first-degree relative of each infant. Maron et al. (1976) analyzed the clinical picture of 46 children with ASH. On the basis of a study of an outpatient population, Spirito et al. (1989) suggested that the prognosis in hypertrophic cardiomyopathy may be less grave than has usually been considered on the basis of hospital-study patients. </p><p>On morphologic grounds, 4 types of hypertrophic cardiomyopathy have been described: type 1 with hypertrophy confined to the anterior segment of the ventricular septum; type 2 with hypertrophy of both the anterior and the posterior segments of the ventricular septum; type 3 with involvement of both the ventricular septum and the free wall of the left ventricle and type 4 with involvement of the posterior segment of the septum, the anterolateral free wall, or the apical half of the septum (Maron et al., 1982; Ciro et al., 1983). Apical hypertrophic cardiomyopathy is, therefore, one form of type IV. It was first described by Yamaguchi et al. (1979) in Japan (where it appears to be more frequent than elsewhere) and later by Maron et al. (1982). The cases of apical hypertrophic cardiomyopathy described by Maron et al. (1982) belonged to families with different forms of hypertrophic cardiomyopathy. Malouf et al. (1985) reported apical hypertrophic cardiomyopathy in father and daughter of a Lebanese Christian family. The parents were not related; an only sib was normal on examination and echocardiogram as were 2 sisters of the father and their 6 children. </p><p>In a metaanalysis of sudden death from cardiac causes in children and young adults, Liberthson (1996) found that hypertrophic cardiomyopathy was the most frequent cause of sudden death in young persons in association with strenuous physical exertion or sports. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Other Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Maron et al. (1996) collected information on 158 sudden deaths that had occurred in trained athletes throughout the United States from 1985 through 1995. In 24 athletes (15%), noncardiovascular causes were found. Among the 134 athletes who had cardiovascular causes of sudden death, the median age was 17 years. The most common competitive sports involved were basketball (47 cases) and football (45 cases), together accounting for 68% of sudden deaths. The most common structural cardiovascular diseases identified at autopsy as the primary cause of death were hypertrophic cardiomyopathy (48 athletes, 36%), which was disproportionately prevalent in black athletes compared with white athletes (48% vs 26% of deaths; P = 0.01), and malformations involving anomalous coronary artery origin (17 athletes, 13%). Of 115 athletes who had a standard preparticipation medical evaluation, only 4 (3%) were suspected of having cardiovascular disease, and the cardiovascular anomaly responsible for sudden death was correctly identified in only 1 athlete (0.9%). </p><p>In a series of 387 young athletes who died suddenly, Maron (2003) found that hypertrophic cardiomyopathy was the cause in 102 (26.4%). Coronary artery anomalies had accounted for 53 (13.7%) and ruptured aortic aneurysm of Marfan syndrome for 12 (3.1%). Arrhythmogenic right ventricular cardiomyopathy was found in 11 (2.8%) and long QT syndrome in 3 (0.8%). </p><p>Cannon (2003) tabulated the features of hypertrophic cardiomyopathy that increase the risk of cardiovascular events. These included family history of sudden death, recurrent syncope, ventricular tachycardia on monitoring, extreme left ventricular hypertrophy (more than 3 cm), left ventricular outflow pressure gradient of more than 30 mm Hg, and fall in blood pressure during exercise. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In the family reported by Horlick et al. (1966), 10 persons in 4 generations were thought to have been affected. Pare et al. (1961) described this disorder in 30 out of 87 members of a French Canadian kindred. The genealogic survey was carried back to the original emigrant from France in the 1600s. The pattern of occurrence over 5 generations and 160 years since the death of the man believed to be the first instance of the heart disease indicated autosomal dominant inheritance. Elevated paternal age of sporadic (possible fresh mutation) cases was observed by Jorgensen (1968). The family study of Clark et al. (1973), using echocardiography, indicated that 28 of 30 probands (93%) had an affected parent. This agrees well with estimates of the extent to which this disorder, on the average, reduces reproductive fitness. </p><p>Greaves et al. (1987) performed echocardiographic studies of 193 first-degree relatives of 50 patients with hypertrophic cardiomyopathy. More males than females were affected. In 28 of 50 families, familial occurrence was observed. In 15 families the pattern of transmission was consistent with autosomal dominant inheritance; in the other 13 families affected members were in a single generation and the pattern of inheritance could not be determined. </p><p>The family reported by Yamaguchi et al. (1979) suggested X-linked recessive inheritance. Burn (1985) felt that the existence of a recessive form of hypertrophic cardiomyopathy (Emanuel et al., 1971; Branzi et al., 1985) could neither be established nor disproved at the time of his writing. Branzi et al. (1985) claimed the existence of an autosomal recessive form because of a family they found with 2 affected sisters and both parents normal by careful study. Formal segregation analysis supported the existence of 2 classes: one with a segregation ratio close to 50% and one with a value close to 25%. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Jarcho et al. (1989) did studies with DNA markers in the Canadian family originally reported by Pare et al. (1961). At the time of the study, hypertrophic cardiomyopathy had occurred in 20 surviving and 24 deceased family members. With a polymorphic DNA probe with the trivial name CRI-L436, which identified a DNA segment designated D14S26, they found no recombination (lod score = 9.37 at theta = 0). This probe had been assigned to chromosome 14 on the basis of somatic cell hybrid analysis (Donis-Keller et al., 1987). The gene encoding the alpha chain of the T-cell receptor (see 186880) was located approximately 20 cM from D14S26 (Mitchell et al., 1989). Solomon et al. (1990) mapped the probe CRI-L436 to 14q11-q12 by in situ hybridization. Because the cardiac myosin heavy chain genes (MYH6, 160710; MYH7) map to the same chromosomal band, they determined the genetic distance between the gene for the beta heavy chain of cardiac myosin, D14S26, and the CMH1 locus. They presented data indicating that these 3 loci are linked within 5 cM of each other. The data were consistent with the possibility that the CMH1 mutation is in either the alpha or the beta gene. </p><p>Hejtmancik et al. (1991) found that the gene for familial hypertrophic cardiomyopathy was located at 14q1 in 8 unrelated families of varied ethnic origins. Of 5 families with hypertrophic cardiomyopathy, Epstein et al. (1992) found linkage to chromosome 14 markers in one and suggestive linkage in a second. However, linkage to chromosome 14 markers was excluded in the other 3 kindreds. Ko et al. (1992) excluded linkage to D14S26 in a Chinese family, likewise indicating genetic heterogeneity. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In affected members of the large French Canadian kindred originally reported by Pare et al. (1961) and shown to have linkage to markers on the proximal portion of 14q, Geisterfer-Lowrance et al. (1990) identified heterozygosity for a missense mutation in the MYH7 gene (R403Q; 160760.0001). Ross and Knowlton (1992) reviewed this discovery beginning with the patients first seen by Pare in the 1950s. </p><p>Using a ribonuclease protection assay, Watkins et al. (1992) screened the beta cardiac myosin heavy-chain genes of probands from 25 unrelated families with familial hypertrophic cardiomyopathy and identified 7 different missense mutations in the MYH7 gene in 12 of the 25 families (see, e.g., 160760.0003-160760.0007). </p><p>Atiga et al. (2000) studied 36 patients with CMH1 using beat-to-beat QT variability analysis. This technique quantifies the beat-to-beat fluctuations in ventricular repolarization reflected in the QT interval. Seven mutations were found in this group: 9 patients had the 'severe' arg403-to-gln mutation (160760.0001) and 8 had the more benign leu908-to-val mutation (160760.0010). Atiga et al. (2000) found higher QT variability indices in patients with CMH1 compared with controls, and the greatest abnormality was observed in patients with the arg403-to-gln mutation. CMH1 patients therefore exhibited labile ventricular repolarization and were considered to be at higher risk of sudden death from ventricular arrhythmias, particularly those with a 'severe' mutation. </p><p>Blair et al. (2001) studied a family with familial hypertrophic cardiomyopathy in which 2 individuals suffered early sudden death and a third individual died suddenly at the age of 60 years with autopsy evidence of familial hypertrophic cardiomyopathy. A val606-to-met (V606M) mutation was observed in the MYH7 gene (160760.0005). This mutation had previously been proposed to give rise to a benign phenotype (see Abchee and Marian, 1997). A second ala728-to-val (A728V) mutation (160760.0025) was found in cis with the V606M mutation. Blair et al. (2001) suggested that this second mutation in cis explained the more severe phenotype seen in this family. </p><p>Arad et al. (2005) identified 2 different MYH7 missense mutations in 2 probands with apical hypertrophy from families in which the mutations also caused other CMH morphologies (see 160760.0038 and 160760.0039, respectively). Another MYH7 mutation (R243H; 160760.0040) was identified in a sporadic patient with apical hypertrophy; the same R243H mutation was later found by Klaassen et al. (2008) in a family segregating isolated left ventricular noncompaction (LVNC5; see 613426). </p><p>In a Japanese proband with CMH (CMH17; 613873), Matsushita et al. (2007) identified heterozygosity for a missense mutation in the JPH2 gene (605267.0004); subsequent analysis of 15 known CMH-associated genes revealed that the proband also carried 2 mutations in MYH7 (see, e.g., 160760.0016). The authors suggested that mutations in both JPH2 and MYH7 could be associated with the pathogenesis of CMH in this proband. </p><p>In a 32-year-old African American woman with severe hypertrophic cardiomyopathy (see CMH7, 613690) and a family history of CMH and sudden cardiac death, Frazier et al. (2008) identified a heterozygous mutation in the TNNI3 gene (P82S; 191044.0003) and a heterozygous mutation in the MYH7 gene (R453S; 160760.0043). Frazier et al. (2008) suggested that the P82S variant, which they found in 3% of healthy African Americans, is a disease-modifying mutation in severely affected individuals, and that carriers of the variant might be at increased risk of late-onset cardiac hypertrophy. </p><p><strong><em>Skeletal Muscle Involvement</em></strong></p><p>
Fananapazir et al. (1993) demonstrated by biopsy of the soleus muscle the presence of central core disease of skeletal muscle in association with hypertrophic cardiomyopathy due to any of 4 different mutations in the MYH7 gene. These findings were consistent with congenital myopathy-7A (CMYO7A; 608358), also caused by mutation in the MYH7 gene. However, almost all patients had no significant muscle weakness, despite the histologic changes. In 1 family with a L908V mutation (160760.0010), central cores were demonstrated on soleus muscle biopsy, although cardiac hypertrophy was absent on echocardiogram in 2 adults and 3 children. The histologic hallmark was the absence of mitochondria in the center of many type I fibers as revealed by light microscopic examination of NADH-stained fresh-frozen skeletal muscle sections. Soleus muscle samples from patients in 4 kindreds in which hypertrophic cardiomyopathy was not linked to the MYH7 locus showed no myopathy or central core disease. McKenna (1993), who stated that he had never seen clinical evidence of skeletal myopathy in CMH1, doubted the significance of the findings. </p><p>In a mother with myosin storage myopathy (CMYO7A; 608368), who later developed CMH, and in her daughter, who had early-symptomatic left ventricular noncompaction (LVNC5; see 613426), Uro-Coste et al. (2009) identified heterozygosity for the L1793P mutation in MYH7 (160760.0037). The mother presented at age 30 years with proximal muscle weakness, which progressed to the point of her being wheelchair-bound by 48 years of age. At age 51, CMH was diagnosed; echocardiography revealed no atrial or ventricular dilatation, and no abnormal appearance of the ventricular walls. Skeletal muscle biopsy at 53 years of age showed subsarcolemmal accumulation of hyaline material in type 1 fibers. Her 24-year-old daughter presented with heart failure at 3 months of age and was diagnosed with early-onset cardiomyopathy. Angiography revealed a less-contractile, irregular 'spongiotic' wall in the inferior left ventricle, and echocardiography confirmed the diagnosis of LVNC. The daughter did not complain of muscle weakness, but clinical examination revealed bilateral wasting of the distal leg anterior compartment and she had some difficulty with heel-walking. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a cohort of 239 patients with hypertrophic cardiomyopathy who were negative for mutation in the 8 most common CMH-associated myofilament genes, Theis et al. (2006) analyzed 5 candidate Z-disc genes and identified 14 mutations in 13 patients. The authors observed that 11 (85%) of the 13 patients with Z-disc-associated CMH had a sigmoidal septal contour, in contrast to the reverse septal curvature seen with myofilament-associated CMH. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Heterogeneity</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In affected members of an Italian family, Ferraro et al. (1990) found that 7 affected members and none of 3 unaffected members showed a fragile site on 16q (FRA16B). </p><p>Hengstenberg et al. (1993, 1994) studied a family with familial hypertrophic cardiomyopathy in which preliminary haplotype analyses excluded linkage to chromosomes 14q1, 1q3, 11p13-q13, and 15q2, suggesting the existence of another locus, designated CMH5, for this disorder. Further studies in this family by Richard et al. (1999) demonstrated that of 8 affected family members, 4 had a mutation in the MYH7 gene (160760.0033), 2 had a mutation in the MYBPC3 gene (600958.0014), and 2 were doubly heterozygous for the 2 mutations. The doubly heterozygous patients exhibited marked left ventricular hypertrophy, which was significantly greater than that in the other affected individuals. </p><p>Seidman and Seidman (2001) reviewed the genetic and clinical heterogeneity of hypertrophic cardiomyopathy. </p><p>Arad et al. (2002) reviewed the clinical spectrum of hypertrophic cardiomyopathy in the context of genetic heterogeneity, as well as animal models of hypertrophic cardiomyopathy. </p><p>In 108 consecutive patients with hypertrophic cardiomyopathy diagnosed by echocardiography, angiography, or findings after myectomy, Erdmann et al. (2003) screened for mutations in 6 sarcomeric genes. They identified 34 different mutations: 18 in the MYBPC3 gene in 20 patients, with 2 mutations identified twice; 13 missense mutations in the MYH7 gene in 14 patients, with 1 mutation identified twice; and 1 amino acid change each in the TPM1, TNNT2, and TNNI3 genes. No disease-causing mutation was identified in TNNC1 (191040). In only 8 of the 37 mutation carriers was the mutation sporadic. Thus, systematic mutation screening in a large sample of patients with hypertrophic cardiomyopathy led to a genetic diagnosis in approximately 30% of unrelated index patients and in approximately 57% of patients with a positive family history. </p><p>In 197 unrelated probands with familial or sporadic hypertrophic cardiomyopathy, Richard et al. (2003) screened for mutations in 9 genes and identified mutations in 124 (63%) of 197 probands. The MYBPC3 and MYH7 genes accounted for 82% of families with identified mutations (42% and 40%, respectively). A mutation was identified in 15 (60%) of 25 sporadic patients. </p><p>In 80 unrelated Australian probands with CMH, Chiu et al. (2007) screened 7 CMH genes, including MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, MYL2, and MYL3. Twenty-four different mutations were identified in 23 (29%) of 80 families, with 19 probands having a single mutation (11 in MYH7, 4 in MYBPC3, 3 in TNNI3, and 1 in TNNT2). Multiple gene mutations were identified in 4 probands: 1 was doubly heterozygous, with 1 mutation in MYH7 and 1 in MYBPC3, whereas the other 3 were compound heterozygous for mutations in MYBPC3 (see, e.g., 600958.0021 and 600958.0022). Six (43%) of 14 affected individuals from multiple mutation families experienced sudden cardiac death, compared with 10 (18%) of 55 affected members from single mutation families (p = 0.05). Septal wall thickness was increased in patients with multiple mutations (mean thickness, 30.7 mm vs 24.4 mm; p less than 0.05). Ingles et al. (2005) concluded that multiple gene mutations occurring in CMH families may result in a more severe clinical phenotype because of a 'double-dose' effect, and emphasized the importance of screening the entire panel of CMH genes even after a single mutation has been identified. </p><p>Van Driest et al. (2004) analyzed the MYBPC3 gene in a cohort of 389 CMH probands who had previously been genotyped for mutation in genes encoding the sarcomeric proteins comprising the thick filament (MYH7 and the regulatory and essential light chains, MYL2 and MYL3) and the thin filament (TNNT2, TNNI3, TPM1, and ACTC). Overall, 63 (16.2%) of the patients had a single mutation in the MYBPC3 gene, 54 (13.8%) in MYH7, 7 (1.8%) in MYL2, 6 (1.5%) in TNNT2, 4 (1.0%) in TNNI3, 2 (0.5%) in TPM1, and 1 (0.3%) in ACTC. The 10 patients with multiple mutations (2.6%) had the most severe disease presentation: they were significantly younger at diagnosis than any other subgroup, had the most hypertrophy, and had the highest incidence of myectomy and placement of implantable cardioverter-defibrillators. </p><p>From 2000 to 2012, Das et al. (2014) studied a total of 136 unrelated hypertrophic cardiomyopathy probands, of which 63 (46%) carried at least 1 pathogenic mutation. MYBPC3 (600958) accounted for 34 patients, or 47%, and MYH7 (160760) accounted for 23 patients, or 32%. Together, these gene variants accounted for 79%. In this study, 5 variants in 6 probands (10%) were reclassified: 2 variants of uncertain significance were upgraded to pathogenic, 1 variant of uncertain significance and 1 pathogenic variant were downgraded to benign, and 1 pathogenic variant (found in 2 families) was downgraded to a variant of uncertain significance. Das et al. (2014) concluded that given the rapid growth of genetic information available, periodic reassessment of single-nucleotide variant data is essential in hypertrophic cardiomyopathy. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>To screen for mutations that cause familial hypertrophic cardiomyopathy, Rosenzweig et al. (1991) capitalized on the fact that 'ectopic' or 'illegitimate' transcription of beta cardiac myosin heavy chain gene can be detected in blood lymphocytes. Preclinical or prenatal screening will make it possible to study the disorder longitudinally and to develop preventive interventions. The findings again illustrate the important application of PCR. Clarke and Harper (1992) suggested that 'the parallels between this cardiomyopathy and Huntington's disease are sufficiently striking that we would be very cautious about testing for it in childhood. The emotional consequences of being brought up under a cloud of doom may be damaging, and the lack of any uncertainty in identifying gene carriers by mutation analysis might paradoxically make this worse.' Watkins et al. (1992) countered this view, saying that children with the condition face a 4 to 6% risk of sudden death each year. Genetic diagnosis will allow evaluation of prophylactic use of antiarrhythmic agents or implantable defibrillator devices. It will also provide parents and physicians an appropriate basis on which to make decisions regarding the participation of children in competitive sports. They suggested that in their experience '...any perception of a cloud of doom comes as much from a lack of knowledge of and research into this inherited cardiomyopathy as from anything else.' </p><p>To provide a method of genetic diagnosis of cardiomyopathy, Mogensen et al. (2001) developed a method of linkage analysis using multiplex PCR of markers covering 9 loci associated with familial hypertrophic cardiomyopathy. They evaluated this method in 3 families. In all 3 families the locus showing the highest lod score was subsequently found by mutation analysis to be the locus at which the disease-causing gene was found. Mogensen et al. (2001) emphasized the importance of stringent phenotypic definitions in the diagnostic process. </p><p>Ingles et al. (2013) studied the clinical predictors of genetic testing outcomes for hypertrophic cardiomyopathy. The authors studied 265 unrelated individuals with hypertrophic cardiomyopathy over a 10-year period in specialized cardiac genetic clinics across Australia. Of the 265 individuals studied, 138 (52%) had at least 1 mutation identified. The mutation detection rate was significantly higher in probands with hypertrophic cardiomyopathy with an established family history of disease (72% vs 29%, p less than 0.0001), and a positive family history of sudden cardiac death further increased the detection rate (89% vs 59%, p less than 0.0001). Multivariate analysis identified female gender, increased left ventricular wall thickness, family history of hypertrophic cardiomyopathy, and family history of sudden cardiac death as being associated with greatest chance of identifying a gene mutation. Multiple mutation carriers (n = 16, 6%) were more likely to have suffered an out-of-hospital cardiac arrest or sudden cardiac death (31% vs 7%, p = 0.012). Ingles et al. (2013) concluded that family history is a key clinical predictor of a positive genetic diagnosis and has direct clinical relevance, particularly in the pretest genetic counseling setting. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Pathogenesis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Wagner et al. (1989) investigated a possible role of adrenergic innervation or of cellular calcium regulation in pathogenesis, as suggested by the presence of hyperdynamic left ventricular function and by the clinical and symptomatic improvement seen in patients treated with beta-receptor antagonists or calcium antagonists. They found that calcium-antagonist binding sites, measured as the amount of dihydropyridine bound to atrial tissue, were increased by 33% in patients with hypertrophic cardiomyopathy. The densities of saxitoxin-binding sites on voltage-sensitive sodium channels and beta-adrenoceptors did not differ from controls. Wagner et al. (1989) interpreted the findings as suggesting that abnormal calcium fluxes through voltage-sensitive calcium channels may play a pathophysiologic role in the disease. </p><p>There is evidence that 'myocardial bridging' with compression of an epicardial coronary artery, such as the left anterior descending coronary artery, can cause myocardial ischemia and sudden death. Yetman et al. (1998) performed angiographic studies of 36 children with hypertrophic cardiomyopathy to determine whether myocardial bridging was present and, if so, to assess the characteristics of systolic narrowing of the left anterior descending coronary artery caused by myocardial bridging and the duration of residual diastolic compression. Myocardial bridging was present in 10 (28%) of the patients. As compared with patients without bridging, patients with bridging had a greater incidence of chest pain, cardiac arrest with subsequent resuscitation, and ventricular tachycardia. On average, the patients with bridging had a reduction in systolic blood pressure with exercise, as compared with an elevation in those without bridging. Patients with bridging also had greater ST segment depression with exercise and a shorter duration of exercise. Kaplan-Meier estimates of the proportions of patients who had not died or had cardiac arrest with subsequent resuscitation 5 years after the diagnosis of hypertrophic cardiomyopathy were 67% among patients with bridging and 94% among those without bridging. No statement concerning the family history or other information relevant to an etiology in these patients was provided. </p><p>Using pharmacologic models of cardiac hypertrophy in mice, Friddle et al. (2000) performed expression profiling with fragments of more than 4,000 genes to characterize and contrast expression changes during induction and regression of hypertrophy. Administration of angiotensin II and isoproterenol by osmotic minipump produced increases in cardiac weight (15% and 45%, respectively) that returned to preinduction size after drug withdrawal. From multiple expression analyses of left ventricular RNA isolated at daily time points during cardiac hypertrophy and regression, Friddle et al. (2000) identified sets of genes whose expression was altered at specific stages of this process. While confirming the participation of 25 genes or pathways previously shown to be altered by hypertrophy, a larger set of 30 genes was identified whose expression had not previously been associated with cardiac hypertrophy or regression. Of the 55 genes that showed reproducible changes during the time course of induction and regression, 32 were altered only during induction, and 8 were altered only during regression. Thus, cardiac remodeling during regression uses a set of genes that are distinct from those used during induction of hypertrophy. </p><p>Tsybouleva et al. (2004) observed that myocardial aldosterone and aldosterone synthase (CYP11B2; 124080) mRNA levels were elevated by 4- to 6-fold in patients with hypertrophic cardiomyopathy compared to controls. In studies in rat cardiomyocytes, they found that aldosterone increased expression of several hypertrophic markers via protein kinase D (PRKCM; 605435) and increased collagens and TGFB1 (190180) via PI3K-delta (PIK3CD; 602839). Inhibition of PRKCM and PIK3CD abrogated the hypertrophic and profibrotic effects, respectively, as did the mineralocorticoid receptor antagonist spironolactone. In a mouse model of hypertrophic cardiomyopathy, spironolactone reversed interstitial fibrosis, decreased myocyte disarray, and improved diastolic function. Tsybouleva et al. (2004) concluded that aldosterone is a major link between sarcomeric mutations and cardiac phenotype in CMH. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Wilson et al. (1983) observed marked improvement in the manifestations of familial hypertrophic cardiomyopathy when affected persons with hyperthyroidism were treated for the latter condition. This prompted them to suggest that antithyroid therapy 'should be considered in this form of cardiomyopathy.' </p><p>In discussing the management of hypertrophic cardiomyopathy, Spirito et al. (1997) reviewed heterogeneity of clinical and genetic features and stated that 'the diverse clinical and genetic features of hypertrophic cardiomyopathy make it impossible to define precise guidelines for management.' The treatment of symptoms to improve quality of life and the identification of patients who are at high risk for sudden death and require aggressive therapy are 2 distinct issues that must be addressed by largely independent strategies. The stratification of risk and the prevention of sudden death were discussed. </p><p>Ventricular tachycardia or fibrillation is thought to be the principal mechanism of sudden death in patients with hypertrophic cardiomyopathy. Maron et al. (2000) conducted a retrospective study, the results of which indicated that in high-risk patients with hypertrophic cardiomyopathy, implantable defibrillators are highly effective in terminating such arrhythmias, indicating that these devices have a role in the prevention of sudden death. In comments on the study of Maron et al. (2000), Watkins (2000) stated that for most patients with hypertrophic cardiomyopathy, the risk is not high enough to offset the adverse effects of an implantable defibrillator. He suggested the creation of an international registry to document discharge rates after implantation for each of the indicators of risk. Ideally, the data should include molecular genetic information, since the underlying mutation will itself be predictive. He cited the cohort studies of McKenna et al. (1985) in which patients with hypertrophic cardiomyopathy who were treated with low-dose amiodarone compared with untreated historical controls suggested that long-term treatment was partially protective; and the work of Ostman-Smith et al. (1999), indicating that high doses of beta-blockers may also confer protection. Since there has been an excess rate of sudden death during or shortly after exercise, most physicians recommend that patients with hypertrophic cardiomyopathy avoid competitive sports or intensive exertion. </p><p>In a study of 480 consecutive patients with hypertrophic cardiomyopathy, Spirito et al. (2000) found that the magnitude of hypertrophy is directly related to the risk of sudden death and then is a strong and independent predictor of prognosis. Young patients with extreme hypertrophy, even those with few or no symptoms, appeared to be at substantial long-term risk and thus were considered for interventions to prevent sudden death. Most patients with mild hypertrophy were at low risk and were reassured regarding their prognosis. </p><p>Ho et al. (2002) studied confirmed MYH7 mutation heterozygotes using echocardiography, including Doppler tissue imaging. Left ventricular ejection fraction was significantly higher in mutation carriers than in normal controls. Mean early diastolic myocardial velocities were significantly lower in mutation carriers, irrespective of whether hypertrophy was already present. Overall the authors concluded that abnormalities of diastolic function were detectable before the onset of myocardial hypertrophy in mutation carriers, providing a mechanism for predicting affected individuals. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In a discussion of hypertrophic cardiomyopathy, Maron et al. (1987) stated that approximately 45% of cases are sporadic. New mutations cannot be the explanation for all of the sporadic cases; hence, there may be other etiologically distinct disorders represented in the group of hypertrophic cardiomyopathies. Systematic echocardiographic surveys of families of patients with hypertrophic cardiomyopathy have identified relatives older than 50 years of age with mild and localized left ventricular hypertrophy. Thus, the true proportion of sporadic cases may not be as high as 45%. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Darsee et al. (1979) found a lod score of 7.7 for linkage between ASH and HLA and concluded that, in addition to the hereditary form linked to HLA, a sporadic unlinked form is associated with severe systemic hypertension. This presumably strong evidence placing a gene for hypertrophic subaortic stenosis on 6p by linkage to HLA was invalidated when the infamous John R. Darsee confessed fabrication of the data. Nutter also published a retraction. Motulsky (1979) wrote a laudatory editorial to accompany the original article. </p><p>In his retraction letter, Darsee stated: 'The lod scores were calculated, in part, by one of the journal referees who felt they should be included, and partly by my own calculations. The biometrist I consulted at Emory regarding these calculations was not familiar with lod scores and unable to provide assistance.' Before Darsee confessed, Darsee and Heymsfield (1981) wrote: 'It is the pinhole through which we are forced to view this disease or these diseases that has helped confer a degree of homogeneity. The pinhole is the limited collection of tools we have to study hypertrophic cardiomyopathy--the angiogram, the echocardiogram, and the autopsy table. It is a common practice of even the most perspicacious and critical investigators to conclude that diseases that look the same on canvas were painted with the same brush.' Although these words are true in general terms and are a fine statement of the principle of genetic heterogeneity, the falsified data do not support them, of course. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Bingle et al. (1975); Bulkley et al. (1977); Criley et al. (1965);
Gardin et al. (1982); Goodwin and Krikler (1976); Hardarson et al.
(1973); Haugland et al. (1986); Henry et al. (1973); Jeschke et al.
(1998); Manchester (1963); Masuya et al. (1982); Powell et al.
(1973); Smith et al. (1976); Solomon et al. (1990); Wei et al.
(1980); Wood et al. (1962)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Abchee, A., Marian, A. J.
<strong>Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy.</strong>
J. Investig. Med. 45: 191-196, 1997.
[PubMed: 9154300]
</p>
</li>
<li>
<p class="mim-text-font">
Arad, M., Penas-Lado, M., Monserrat, L., Maron, B. J., Sherrid, M., Ho, C. Y., Barr, S., Karim, A., Olson, T. M., Kamisago, M., Seidman, J. G., Seidman, C. E.
<strong>Gene mutations in apical hypertrophic cardiomyopathy.</strong>
Circulation 112: 2805-2811, 2005.
[PubMed: 16267253]
[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.105.547448]
</p>
</li>
<li>
<p class="mim-text-font">
Arad, M., Seidman, J. G., Seidman, C. E.
<strong>Phenotypic diversity in hypertrophic cardiomyopathy.</strong>
Hum. Molec. Genet. 11: 2499-2506, 2002.
[PubMed: 12351586]
[Full Text: https://doi.org/10.1093/hmg/11.20.2499]
</p>
</li>
<li>
<p class="mim-text-font">
Atiga, W. L., Fananapazir, L., McAreavey, D., Calkins, H., Berger, R. D.
<strong>Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations.</strong>
Circulation 101: 1237-1242, 2000.
[PubMed: 10725281]
[Full Text: https://doi.org/10.1161/01.cir.101.11.1237]
</p>
</li>
<li>
<p class="mim-text-font">
Bingle, G. J., Dillon, J., Hurwitz, R.
<strong>Asymmetric septal hypertrophy in a large Amish kindred.</strong>
Clin. Genet. 7: 255-261, 1975.
[PubMed: 1139794]
[Full Text: https://doi.org/10.1111/j.1399-0004.1975.tb00327.x]
</p>
</li>
<li>
<p class="mim-text-font">
Blair, E., Price, S. J., Baty, C. J., Ostman-Smith, I., Watkins, H.
<strong>Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. (Letter)</strong>
J. Med. Genet. 38: 385-387, 2001.
[PubMed: 11424919]
[Full Text: https://doi.org/10.1136/jmg.38.6.385]
</p>
</li>
<li>
<p class="mim-text-font">
Branzi, A., Romeo, G., Specchia, S., Lolli, C., Binetti, G., Devoto, M., Bacchi, M., Magnani, B.
<strong>Genetic heterogeneity of hypertrophic cardiomyopathy.</strong>
Int. J. Cardiol. 7: 129-133, 1985.
[PubMed: 4038691]
[Full Text: https://doi.org/10.1016/0167-5273(85)90352-3]
</p>
</li>
<li>
<p class="mim-text-font">
Braunwald, E., Lambrew, C. T., Rockoff, S. D., Ross, J., Jr., Morrow, A. G.
<strong>Idiopathic hypertrophic subaortic stenosis. I. A description of the disease based on an analysis of 64 patients.</strong>
Circulation 30 (suppl. 4): 3-119, 1964.
[PubMed: 14227306]
[Full Text: https://doi.org/10.1161/01.cir.29.5s4.iv-3]
</p>
</li>
<li>
<p class="mim-text-font">
Bulkley, B. H., Weisfeldt, M. L., Hutchins, G. M.
<strong>Isometric cardiac contraction: a possible cause of the disorganized myocardial pattern of idiopathic hypertrophic subaortic stenosis.</strong>
New Eng. J. Med. 296: 135-139, 1977.
[PubMed: 556638]
[Full Text: https://doi.org/10.1056/NEJM197701202960303]
</p>
</li>
<li>
<p class="mim-text-font">
Burn, J.
<strong>The genetics of hypertrophic cardiomyopathy. (Editorial)</strong>
Int. J. Cardiol. 7: 135-138, 1985.
</p>
</li>
<li>
<p class="mim-text-font">
Cannon, R. O., III.
<strong>Assessing risk in hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 349: 1016-1018, 2003.
[PubMed: 12968084]
[Full Text: https://doi.org/10.1056/NEJMp038122]
</p>
</li>
<li>
<p class="mim-text-font">
Chiu, C., Tebo, M., Ingles, J., Yeates, L., Arthur, J. W., Lind, J. M., Semsarian, C.
<strong>Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.</strong>
J. Molec. Cell. Cardiol. 43: 337-343, 2007.
[PubMed: 17655857]
[Full Text: https://doi.org/10.1016/j.yjmcc.2007.06.009]
</p>
</li>
<li>
<p class="mim-text-font">
Ciro, E., Nichols, P. F., Maron, B. J.
<strong>Heterogeneous morphologic expression of genetically transmitted hypertrophic cardiomyopathy: two-dimensional echocardiographic analysis.</strong>
Circulation 67: 1227-1233, 1983.
[PubMed: 6682724]
[Full Text: https://doi.org/10.1161/01.cir.67.6.1227]
</p>
</li>
<li>
<p class="mim-text-font">
Clark, C. E., Henry, W. L., Epstein, S. E.
<strong>Familial prevalence and genetic transmission of idiopathic hypertrophic subaortic stenosis.</strong>
New Eng. J. Med. 289: 709-714, 1973.
[PubMed: 4737963]
[Full Text: https://doi.org/10.1056/NEJM197310042891402]
</p>
</li>
<li>
<p class="mim-text-font">
Clarke, A., Harper, P.
<strong>Genetic testing for hypertrophic cardiomyopathy. (Letter)</strong>
New Eng. J. Med. 327: 1175-1176, 1992.
[PubMed: 1528221]
[Full Text: https://doi.org/10.1056/NEJM199210153271616]
</p>
</li>
<li>
<p class="mim-text-font">
Criley, J. M., Lewis, K. B., White, R. I., Jr., Ross, R. S.
<strong>Pressure gradients without obstruction: a new concept of &#x27;hypertrophic subaortic stenosis.&#x27;.</strong>
Circulation 32: 881-887, 1965.
[PubMed: 5845247]
[Full Text: https://doi.org/10.1161/01.cir.32.6.881]
</p>
</li>
<li>
<p class="mim-text-font">
Darsee, J. R., Heymsfield, S. B., Nutter, D. O.
<strong>Hypertrophic cardiomyopathy and human leukocyte antigen linkage: differentiation of two forms of hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 300: 877-882, 1979. Note: Retraction: Nutter, Heymsfield, and Glenn, New Eng. J. Med. 308: 1400 only, 1983.
[PubMed: 370596]
[Full Text: https://doi.org/10.1056/NEJM197904193001602]
</p>
</li>
<li>
<p class="mim-text-font">
Darsee, J. R., Heymsfield, S. B.
<strong>Decreased myocardial taurine levels and hypertaurinuria in a kindred with mitral-valve prolapse and congestive cardiomyopathy.</strong>
New Eng. J. Med. 304: 129-135, 1981. Note: Retraction: Heymsfield and Glenn, New Eng. J. Med. 308: 1400 only, 1983.
[PubMed: 7003386]
[Full Text: https://doi.org/10.1056/NEJM198101153040301]
</p>
</li>
<li>
<p class="mim-text-font">
Das, J., Ingles, J., Bagnall, R. D., Semsarian, C.
<strong>Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.</strong>
Genet. Med. 16: 286-293, 2014. Note: Erratum: Genet. Med. 21: 1264 only, 2019.
[PubMed: 24113344]
[Full Text: https://doi.org/10.1038/gim.2013.138]
</p>
</li>
<li>
<p class="mim-text-font">
Donis-Keller, H., Green, P., Helms, C., Cartinhour, S., Weiffenbach, B., Stephens, K., Keith, T. P., Bowden, D. W., Smith, D. R., Lander, E. S., Botstein, D., Akots, G., and 21 others.
<strong>A genetic linkage map of the human genome.</strong>
Cell 51: 319-337, 1987.
[PubMed: 3664638]
[Full Text: https://doi.org/10.1016/0092-8674(87)90158-9]
</p>
</li>
<li>
<p class="mim-text-font">
Emanuel, R., Withers, R., O'Brien, K.
<strong>Dominant and recessive modes of inheritance in idiopathic cardiomyopathy.</strong>
Lancet 298: 1065-1067, 1971. Note: Originally Volume II.
[PubMed: 4106916]
[Full Text: https://doi.org/10.1016/s0140-6736(71)90383-7]
</p>
</li>
<li>
<p class="mim-text-font">
Epstein, N. D., Fananapazir, L., Lin, H. J., Mulvihill, J., White, R., Lalouel, J.-M., Lifton, R. P., Nienhuis, A. W., Leppert, M.
<strong>Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy.</strong>
Circulation 85: 635-647, 1992.
[PubMed: 1735158]
[Full Text: https://doi.org/10.1161/01.cir.85.2.635]
</p>
</li>
<li>
<p class="mim-text-font">
Erdmann, J., Daehmlow, S., Wischke, S., Senyuva, M., Werner, U., Raible, J., Tanis, N., Dyachenko, S., Hummel, M., Hetzer, R., Regitz-Zagrosek, V.
<strong>Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.</strong>
Clin. Genet. 64: 339-349, 2003.
[PubMed: 12974739]
[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00151.x]
</p>
</li>
<li>
<p class="mim-text-font">
Fananapazir, L., Dalakas, M. C., Cyran, F., Cohn, G., Epstein, N. D.
<strong>Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.</strong>
Proc. Nat. Acad. Sci. 90: 3993-3997, 1993.
[PubMed: 8483915]
[Full Text: https://doi.org/10.1073/pnas.90.9.3993]
</p>
</li>
<li>
<p class="mim-text-font">
Ferraro, M., Scarton, G., Ambrosini, M.
<strong>Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family.</strong>
J. Med. Genet. 27: 363-366, 1990.
[PubMed: 2359098]
[Full Text: https://doi.org/10.1136/jmg.27.6.363]
</p>
</li>
<li>
<p class="mim-text-font">
Frazier, A., Judge, D. P., Schulman, S. P., Johnson, N., Holmes, K. W., Murphy, A. M.
<strong>Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.</strong>
Pediat. Cardiol. 29: 846-850, 2008.
[PubMed: 18175163]
[Full Text: https://doi.org/10.1007/s00246-007-9177-9]
</p>
</li>
<li>
<p class="mim-text-font">
Friddle, C. J., Koga, T., Rubin, E. M., Bristow, J.
<strong>Expression profiling reveals distinct sets of genes altered during induction and regression of cardiac hypertrophy.</strong>
Proc. Nat. Acad. Sci. 97: 6745-6750, 2000.
[PubMed: 10829065]
[Full Text: https://doi.org/10.1073/pnas.100127897]
</p>
</li>
<li>
<p class="mim-text-font">
Gardin, J. M., Gottdiener, J. S., Radvany, R., Maron, B. J., Lesch, M.
<strong>HLA linkage vs association in hypertrophic cardiomyopathy: evidence for the absence of an association in a heterogeneous Caucasian population.</strong>
Chest 81: 466-472, 1982.
[PubMed: 7200000]
[Full Text: https://doi.org/10.1378/chest.81.4.466]
</p>
</li>
<li>
<p class="mim-text-font">
Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., Seidman, J. G.
<strong>A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.</strong>
Cell 62: 999-1006, 1990.
[PubMed: 1975517]
[Full Text: https://doi.org/10.1016/0092-8674(90)90274-i]
</p>
</li>
<li>
<p class="mim-text-font">
Goodwin, J. F., Krikler, D. M.
<strong>Arrhythmia as a cause of sudden death in hypertrophic cardiomyopathy.</strong>
Lancet 308: 937-940, 1976. Note: Originally Volume II.
[PubMed: 62166]
[Full Text: https://doi.org/10.1016/s0140-6736(76)90896-5]
</p>
</li>
<li>
<p class="mim-text-font">
Greaves, S. C., Roche, A. H. G., Neutze, J. M., Whitlock, R. M. L., Veale, A. M. O.
<strong>Inheritance of hypertrophic cardiomyopathy: a cross sectional and M mode echocardiographic study of 50 families.</strong>
Brit. Heart J. 58: 259-266, 1987.
[PubMed: 3663427]
[Full Text: https://doi.org/10.1136/hrt.58.3.259]
</p>
</li>
<li>
<p class="mim-text-font">
Hardarson, T., Curiel, R., de la Calzada, C. S., Goodwin, J. F.
<strong>Prognosis and mortality of hypertrophic obstructive cardiomyopathy.</strong>
Lancet 302: 1462-1467, 1973. Note: Originally Volume II.
[PubMed: 4129311]
[Full Text: https://doi.org/10.1016/s0140-6736(73)92730-x]
</p>
</li>
<li>
<p class="mim-text-font">
Haugland, H., Ohm, O.-J., Boman, H., Thorsby, E.
<strong>Hypertrophic cardiomyopathy in three generations of a large Norwegian family: a clinical, echocardiographic, and genetic study.</strong>
Brit. Heart J. 55: 168-175, 1986.
[PubMed: 3942651]
[Full Text: https://doi.org/10.1136/hrt.55.2.168]
</p>
</li>
<li>
<p class="mim-text-font">
Hejtmancik, J. F., Brink, P. A., Towbin, J., Hill, R., Brink, L., Tapscott, T., Trakhtenbroit, A., Roberts, R.
<strong>Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse U.S. population.</strong>
Circulation 83: 1592-1597, 1991.
[PubMed: 2022018]
[Full Text: https://doi.org/10.1161/01.cir.83.5.1592]
</p>
</li>
<li>
<p class="mim-text-font">
Hengstenberg, C., Charron, P., Beckmann, J. S., Weissenbach, J., Isnard, R., Komajda, M., Schwartz, K.
<strong>Evidence for the existence of a fifth gene causing familial hypertrophic cardiomyopathy. (Abstract)</strong>
Am. J. Hum. Genet. 53 (suppl.): A1013 only, 1993.
</p>
</li>
<li>
<p class="mim-text-font">
Hengstenberg, C., Charron, P., Isnard, R., Beckmann, J. S., Fetler, L., Desnos, M., Hagege, A., Bouhour, J. B., Souriant, G., Dubourg, O., Schwartz, K., Komajda, M.
<strong>Mise en evidence d&#x27;un cinquieme locus implique dans les cardiomyopathies hypertrophiques familiales.</strong>
Arch. Mal. Coeur. 87: 1655-1662, 1994.
[PubMed: 7786104]
</p>
</li>
<li>
<p class="mim-text-font">
Henry, W. L., Clark, C. E., Epstein, S. E.
<strong>Asymmetric septal hypertrophy (ASH): the unifying link in the IHSS disease spectrum--observations regarding its pathogenesis, pathophysiology and course.</strong>
Circulation 47: 827-832, 1973.
[PubMed: 4266759]
[Full Text: https://doi.org/10.1161/01.cir.47.4.827]
</p>
</li>
<li>
<p class="mim-text-font">
Ho, C. Y., Sweitzer, N. K., McDonough, B., Maron, B. J., Casey, S. A., Seidman, J. G., Seidman, C. E., Solomon, S. D.
<strong>Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.</strong>
Circulation 105: 2992-2997, 2002.
[PubMed: 12081993]
[Full Text: https://doi.org/10.1161/01.cir.0000019070.70491.6d]
</p>
</li>
<li>
<p class="mim-text-font">
Horlick, L., Petkovich, N. J., Bolton, C. F.
<strong>Idiopathic hypertrophic subvalvular stenosis. A study of a family involving four generations. Clinical, hemodynamic and pathologic observations.</strong>
Am. J. Cardiol. 17: 411-418, 1966.
[PubMed: 5948580]
[Full Text: https://doi.org/10.1016/0002-9149(66)90224-4]
</p>
</li>
<li>
<p class="mim-text-font">
Ingles, J., Doolan, A., Chiu, C., Seidman, J., Seidman, C., Semsarian, C.
<strong>Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.</strong>
J. Med. Genet. 42: e59, 2005. Note: Electronic Article.
[PubMed: 16199542]
[Full Text: https://doi.org/10.1136/jmg.2005.033886]
</p>
</li>
<li>
<p class="mim-text-font">
Ingles, J., Sarina, T., Yeates, L., Hunt, L., Macciocca, I., McCormack, L., Winship, I., McGaughran, J., Atherton, J., Semsarian, C.
<strong>Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy.</strong>
Genet. Med. 15: 972-977, 2013.
[PubMed: 23598715]
[Full Text: https://doi.org/10.1038/gim.2013.44]
</p>
</li>
<li>
<p class="mim-text-font">
Jarcho, J. A., McKenna, W., Pare, J. A. P., Solomon, S. D., Holcombe, R. F., Dickie, S., Levi, T., Donis-Keller, H., Seidman, J. G., Seidman, C. E.
<strong>Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.</strong>
New Eng. J. Med. 321: 1372-1378, 1989.
[PubMed: 2811944]
[Full Text: https://doi.org/10.1056/NEJM198911163212005]
</p>
</li>
<li>
<p class="mim-text-font">
Jeschke, B., Uhl, K., Weist, B., Schroder, D., Meitinger, T., Dohlemann, C., Vosberg, H.-P.
<strong>A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.</strong>
Hum. Genet. 102: 299-304, 1998.
[PubMed: 9544842]
[Full Text: https://doi.org/10.1007/s004390050695]
</p>
</li>
<li>
<p class="mim-text-font">
Jorgensen, G.
<strong>Genetische Untersuchungen bei funktionell-obstruktiver subvalvulaerer Aortenstenose (irregulaer hypertrophische Kardiomyopathie).</strong>
Humangenetik 6: 13-28, 1968.
[PubMed: 5749048]
[Full Text: https://doi.org/10.1007/BF00287150]
</p>
</li>
<li>
<p class="mim-text-font">
Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L.
<strong>Mutations in sarcomere protein genes in left ventricular noncompaction.</strong>
Circulation 117: 2893-2901, 2008.
[PubMed: 18506004]
[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.107.746164]
</p>
</li>
<li>
<p class="mim-text-font">
Ko, Y.-L., Lien, W.-P., Chen, J.-J., Wu, C.-W., Tang, T.-K., Liew, C.-C.
<strong>No evidence for linkage of familial hypertrophic cardiomyopathy and chromosome 14q1 locus D14S26 in a Chinese family: evidence for genetic heterogeneity.</strong>
Hum. Genet. 89: 597-601, 1992.
[PubMed: 1511975]
[Full Text: https://doi.org/10.1007/BF00221945]
</p>
</li>
<li>
<p class="mim-text-font">
Liberthson, R. R.
<strong>Sudden death from cardiac causes in children and young adults.</strong>
New Eng. J. Med. 334: 1039-1044, 1996.
[PubMed: 8598843]
[Full Text: https://doi.org/10.1056/NEJM199604183341607]
</p>
</li>
<li>
<p class="mim-text-font">
Malouf, J., Ratl, H., Der Kaloustian, V. M.
<strong>Apical hypertrophic cardiomyopathy in a father and daughter.</strong>
Am. J. Med. Genet. 22: 75-80, 1985.
[PubMed: 2931982]
[Full Text: https://doi.org/10.1002/ajmg.1320220108]
</p>
</li>
<li>
<p class="mim-text-font">
Manchester, G. H.
<strong>Muscular subaortic stenosis.</strong>
New Eng. J. Med. 269: 300-306, 1963.
[PubMed: 13932709]
[Full Text: https://doi.org/10.1056/NEJM196308082690606]
</p>
</li>
<li>
<p class="mim-text-font">
Maron, B. J., Bonow, R. O., Cannon, R. O., III, Leon, M. B., Epstein, S. E.
<strong>Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology, and therapy.</strong>
New Eng. J. Med. 316: 780-789, 1987.
[PubMed: 3547130]
[Full Text: https://doi.org/10.1056/NEJM198703263161305]
</p>
</li>
<li>
<p class="mim-text-font">
Maron, B. J., Bonow, R. O., Seshagiri, T. N. R., Roberts, W. C., Epstein, S. E.
<strong>Hypertrophic cardiomyopathy with ventricular septal hypertrophy localized to the apical region of the left ventricle (apical hypertrophic cardiomyopathy).</strong>
Am. J. Cardiol. 49: 1838-1848, 1982.
[PubMed: 6211078]
[Full Text: https://doi.org/10.1016/0002-9149(82)90200-4]
</p>
</li>
<li>
<p class="mim-text-font">
Maron, B. J., Edwards, J. E., Henry, W. L., Clark, C. E., Bingle, G. J., Epstein, S. E.
<strong>Asymmetric septal hypertrophy (ASH) in infancy.</strong>
Circulation 50: 809-820, 1974.
[PubMed: 4278818]
[Full Text: https://doi.org/10.1161/01.cir.50.4.809]
</p>
</li>
<li>
<p class="mim-text-font">
Maron, B. J., Henry, W. L., Clark, C. E., Redwood, D. R., Roberts, W. C., Epstein, S. E.
<strong>Asymmetric septal hypertrophy in childhood.</strong>
Circulation 53: 9-19, 1976.
[PubMed: 942659]
[Full Text: https://doi.org/10.1161/01.cir.53.1.9]
</p>
</li>
<li>
<p class="mim-text-font">
Maron, B. J., Shen, W.-K., Link, M. S., Epstein, A. E., Almquist, A. K., Daubert, J. P., Bardy, G. H., Favale, S., Rea, R. F., Boriani, G., Estes, M., III, Spirito, P.
<strong>Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 342: 365-373, 2000.
[PubMed: 10666426]
[Full Text: https://doi.org/10.1056/NEJM200002103420601]
</p>
</li>
<li>
<p class="mim-text-font">
Maron, B. J., Shirani, J., Poliac, L. C., Mathenge, R., Roberts, W. C., Mueller, F. O.
<strong>Sudden death in young competitive athletes: clinical, demographic, and pathological profiles.</strong>
JAMA 276: 199-204, 1996.
[PubMed: 8667563]
</p>
</li>
<li>
<p class="mim-text-font">
Maron, B. J.
<strong>Sudden death in young athletes.</strong>
New Eng. J. Med. 349: 1064-1075, 2003.
[PubMed: 12968091]
[Full Text: https://doi.org/10.1056/NEJMra022783]
</p>
</li>
<li>
<p class="mim-text-font">
Masuya, K., Murakami, E., Takekoshi, N., Matsui, S., Murakami, H., Nomura, M., Fujita, S., Tsuji, S., Chadani, T., Emoto, J., Tsugawa, H., Hashimoto, A., Noumi, I.
<strong>Hypertrophic cardiomyopathy in two elderly siblings.</strong>
Jpn. Heart J. 23: 253-262, 1982.
[PubMed: 7200541]
[Full Text: https://doi.org/10.1536/ihj.23.253]
</p>
</li>
<li>
<p class="mim-text-font">
Matsushita, Y., Furukawa, T., Kasanuki, H., Nishibatake, M., Kurihara, Y., Ikeda, A., Kamatani, N., Takeshima, H., Matsuoka, R.
<strong>Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.</strong>
J. Hum. Genet. 52: 543-548, 2007.
[PubMed: 17476457]
[Full Text: https://doi.org/10.1007/s10038-007-0149-y]
</p>
</li>
<li>
<p class="mim-text-font">
McKenna, W. J., Oakley, C. M., Krikler, D. M., Goodwin, J. F.
<strong>Improved survival with amiodarone in patients with hypertrophic cardiomyopathy and ventricular tachycardia.</strong>
Brit. Heart J. 53: 412-416, 1985.
[PubMed: 4039188]
[Full Text: https://doi.org/10.1136/hrt.53.4.412]
</p>
</li>
<li>
<p class="mim-text-font">
McKenna, W. J.
<strong>Personal Communication.</strong>
London, England 5/30/1993.
</p>
</li>
<li>
<p class="mim-text-font">
Mitchell, A. L., Bale, A. E., Wang, M., Pirtle, R., McBride, O. W.
<strong>Localization of TCRA gene and LPT tRNA gene cluster on chromosome 14. (Abstract)</strong>
Cytogenet. Cell Genet. 51: 1045-1046, 1989.
</p>
</li>
<li>
<p class="mim-text-font">
Mogensen, J., Andersen, P. S., Steffensen, U., Christiansen, M., Egeblad, H., Gregersen, N., Borglum, A. D.
<strong>Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy. (Letter)</strong>
J. Med. Genet. 38: 193-197, 2001.
[PubMed: 11303515]
[Full Text: https://doi.org/10.1136/jmg.38.3.193]
</p>
</li>
<li>
<p class="mim-text-font">
Motulsky, A. G.
<strong>The HLA complex and disease: some interpretations and new data in cardiomyopathy. (Editorial)</strong>
New Eng. J. Med. 300: 918-919, 1979.
[PubMed: 570641]
[Full Text: https://doi.org/10.1056/NEJM197904193001610]
</p>
</li>
<li>
<p class="mim-text-font">
Nasser, W. K., Williams, J. F., Mishkin, M. E., Childress, R. H., Helmen, C., Merritt, A. D., Genovese, P. D.
<strong>Familial myocardial disease with and without obstruction to left ventricular outflow: clinical, hemodynamic and angiographic findings.</strong>
Circulation 35: 638-652, 1967.
[PubMed: 6067233]
[Full Text: https://doi.org/10.1161/01.cir.35.4.638]
</p>
</li>
<li>
<p class="mim-text-font">
Ostman-Smith, I., Wettrell, G., Riesenfeld, T. A.
<strong>A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoceptor antagonist treatment.</strong>
J. Am. Coll. Cardiol. 34: 1813-1822, 1999.
[PubMed: 10577575]
[Full Text: https://doi.org/10.1016/s0735-1097(99)00421-0]
</p>
</li>
<li>
<p class="mim-text-font">
Pare, J. A. P., Fraser, R. G., Pirozynski, W. J., Shanks, J. A., Stubington, D.
<strong>Hereditary cardiovascular dysplasia: a form of familial cardiomyopathy.</strong>
Am. J. Med. 31: 37-62, 1961.
[PubMed: 13732753]
[Full Text: https://doi.org/10.1016/0002-9343(61)90222-4]
</p>
</li>
<li>
<p class="mim-text-font">
Powell, W. J., Whiting, R. B., Dinsmore, R. E., Sanders, C. A.
<strong>Symptomatic prognosis in patients with idiopathic hypertrophic subaortic stenosis (IHSS).</strong>
Am. J. Med. 55: 15-24, 1973.
[PubMed: 4197692]
[Full Text: https://doi.org/10.1016/0002-9343(73)90145-9]
</p>
</li>
<li>
<p class="mim-text-font">
Richard, P., Charron, P., Carrier, L., Ledeuil, C., Cheav, T., Pichereau, C., Benaiche, A., Isnard, R., Dubourg, O., Burban, M., Gueffet, J.-P., Millaire, A., Desnos, M., Schwartz, K., Hainque, B., Komajda, M.
<strong>Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.</strong>
Circulation 107: 2227-2232, 2003. Note: Erratum: Circulation 109: 3258 only, 2004.
[PubMed: 12707239]
[Full Text: https://doi.org/10.1161/01.CIR.0000066323.15244.54]
</p>
</li>
<li>
<p class="mim-text-font">
Richard, P., Isnard, R., Carrier, L., Dubourg, O., Donatien, Y., Mathieu, B., Bonne, G., Gary, F., Charron, P., Hagege, A., Komajda, M., Schwartz, K., Hainque, B.
<strong>Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.</strong>
J. Med. Genet. 36: 542-545, 1999.
[PubMed: 10424815]
</p>
</li>
<li>
<p class="mim-text-font">
Rosenzweig, A., Watkins, H., Hwang, D.-S., Miri, M., McKenna, W., Traill, T. A., Seidman, J. G., Seidman, C. E.
<strong>Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes.</strong>
New Eng. J. Med. 325: 1753-1760, 1991.
[PubMed: 1944483]
[Full Text: https://doi.org/10.1056/NEJM199112193252501]
</p>
</li>
<li>
<p class="mim-text-font">
Ross, R. S., Knowlton, K. U.
<strong>Two brothers with unexplained cardiomegaly: initial clues to the molecular basis of a hereditary cardiac disease.</strong>
Trends Cardiovasc. Med. 2: 2-5, 1992.
[PubMed: 21239280]
[Full Text: https://doi.org/10.1016/1050-1738(92)90036-R]
</p>
</li>
<li>
<p class="mim-text-font">
Seidman, C.
<strong>Hypertrophic cardiomyopathy: from man to mouse.</strong>
J. Clin. Invest. 106: S9-S13, 2000.
</p>
</li>
<li>
<p class="mim-text-font">
Seidman, J. G., Seidman, C.
<strong>The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms.</strong>
Cell 104: 557-567, 2001.
[PubMed: 11239412]
[Full Text: https://doi.org/10.1016/s0092-8674(01)00242-2]
</p>
</li>
<li>
<p class="mim-text-font">
Smith, E. R., Heffernan, L. P., Sangalang, V. E., Vaughan, L. M., Flemington, C. S.
<strong>Voluntary muscle involvement in hypertrophic cardiomyopathy: a study of eleven patients.</strong>
Ann. Intern. Med. 85: 566-572, 1976.
[PubMed: 988769]
[Full Text: https://doi.org/10.7326/0003-4819-85-5-566]
</p>
</li>
<li>
<p class="mim-text-font">
Solomon, S. D., Geisterfer-Lowrance, A. A. T., Vosberg, H.-P., Hiller, G., Jarcho, J. A., Morton, C. C., McBride, W. O., Mitchell, A. L., Bale, A. E., McKenna, W. J., Seidman, J. G., Seidman, C. E.
<strong>A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12.</strong>
Am. J. Hum. Genet. 47: 389-394, 1990.
[PubMed: 1975475]
</p>
</li>
<li>
<p class="mim-text-font">
Solomon, S. D., Jarcho, J. A., McKenna, W., Geisterfer-Lowrance, A., Germain, R., Salerni, R., Seidman, J. G., Seidman, C. E.
<strong>Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease.</strong>
J. Clin. Invest. 86: 993-999, 1990.
[PubMed: 1975599]
[Full Text: https://doi.org/10.1172/JCI114802]
</p>
</li>
<li>
<p class="mim-text-font">
Spirito, P., Bellone, P., Harris, K. M., Bernabo, P., Bruzzi, P., Maron, B. J.
<strong>Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 342: 1778-1785, 2000.
[PubMed: 10853000]
[Full Text: https://doi.org/10.1056/NEJM200006153422403]
</p>
</li>
<li>
<p class="mim-text-font">
Spirito, P., Chiarella, F., Carratino, L., Berisso, M. Z., Bellotti, P., Vecchio, C.
<strong>Clinical course and prognosis of hypertrophic cardiomyopathy in an outpatient population.</strong>
New Eng. J. Med. 320: 749-755, 1989.
[PubMed: 2646539]
[Full Text: https://doi.org/10.1056/NEJM198903233201201]
</p>
</li>
<li>
<p class="mim-text-font">
Spirito, P., Seidman, C. E., McKenna, W. J., Maron, B. J.
<strong>The management of hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 336: 775-782, 1997.
[PubMed: 9052657]
[Full Text: https://doi.org/10.1056/NEJM199703133361107]
</p>
</li>
<li>
<p class="mim-text-font">
Teare, D.
<strong>Asymmetrical hypertrophy of the heart in young adults.</strong>
Brit. Heart J. 20: 1-8, 1958.
[PubMed: 13499764]
[Full Text: https://doi.org/10.1136/hrt.20.1.1]
</p>
</li>
<li>
<p class="mim-text-font">
Theis, J. L., Bos, J. M., Bartleson, V. B., Will, M. L., Binder, J., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J.
<strong>Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.</strong>
Biochem. Biophys. Res. Commun. 351: 896-902, 2006.
[PubMed: 17097056]
[Full Text: https://doi.org/10.1016/j.bbrc.2006.10.119]
</p>
</li>
<li>
<p class="mim-text-font">
Tsybouleva, N., Zhang, L., Chen, S., Patel, R., Lutucuta, S., Nemoto, S., DeFreitas, G., Entman, M., Carabello, B. A., Roberts, R., Marian, A. J.
<strong>Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and cardiac phenotype of hypertrophic cardiomyopathy.</strong>
Circulation 109: 1284-1291, 2004.
[PubMed: 14993121]
[Full Text: https://doi.org/10.1161/01.CIR.0000121426.43044.2B]
</p>
</li>
<li>
<p class="mim-text-font">
Uro-Coste, E., Arne-Bes, M.-C., Pellissier, J.-F., Richard, P., Levade, T., Heitz, F., Figarella-Branger, D., Delisle, M.-B.
<strong>Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 leu1793pro mutation.</strong>
Neuromusc. Disord. 19: 163-166, 2009.
[PubMed: 19138847]
[Full Text: https://doi.org/10.1016/j.nmd.2008.11.012]
</p>
</li>
<li>
<p class="mim-text-font">
Van Driest, S. L., Vasile, V. C., Ommen, S. R., Will, M. L., Tajik, A. J., Gersh, B. J., Ackerman, M. J.
<strong>Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.</strong>
J. Am. Coll. Cardiol. 44: 1903-1910, 2004.
[PubMed: 15519027]
[Full Text: https://doi.org/10.1016/j.jacc.2004.07.045]
</p>
</li>
<li>
<p class="mim-text-font">
Verhagen, J. M. A., Veldman, J. H., van der Zwaag, P. A., von der Thusen,, J. H., Brosens, E., Christiaans, I., Dooijes, D., Helderman-van den Enden, A. T. J. M., Lekanne Deprez, R. H., Michels, M., van Mil, A. M., Oldenburg, R. A., van der Smagt, J. J., van den Wijngaard, A., Wessels, M. W., Hofstra, R. M. W., van Slegtenhorst, M. A., Jongbloed, J. D. H., van de Laar, I. M. B. H.
<strong>Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.</strong>
Europ J. Hum. Genet. 26: 1603-1610, 2018.
[PubMed: 29988065]
[Full Text: https://doi.org/10.1038/s41431-018-0208-1]
</p>
</li>
<li>
<p class="mim-text-font">
Wagner, J. A., Sax, F. L., Weisman, H. F., Porterfield, J., McIntosh, C., Weisfeldt, M. L., Snyder, S. H., Epstein, S. E.
<strong>Calcium-antagonist receptors in the atrial tissue of patients with hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 320: 755-761, 1989.
[PubMed: 2537929]
[Full Text: https://doi.org/10.1056/NEJM198903233201202]
</p>
</li>
<li>
<p class="mim-text-font">
Walsh, R., Offerhaus, J. A., Tadros, R., Bezzina, C. R.
<strong>Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.</strong>
Nature Rev. Cardiol. 19: 151-167, 2022.
[PubMed: 34526680]
[Full Text: https://doi.org/10.1038/s41569-021-00608-2]
</p>
</li>
<li>
<p class="mim-text-font">
Watkins, H., Rosenzweig, A., Hwang, D.-S., Levi, T., McKenna, W., Seidman, C. E., Seidman, J. G.
<strong>Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.</strong>
New Eng. J. Med. 326: 1108-1114, 1992.
[PubMed: 1552912]
[Full Text: https://doi.org/10.1056/NEJM199204233261703]
</p>
</li>
<li>
<p class="mim-text-font">
Watkins, H., Seidman, J. G., Seidman, C. E.
<strong>Genetic testing for hypertrophic cardiomyopathy. (Letter)</strong>
New Eng. J. Med. 327: 1176, 1992.
</p>
</li>
<li>
<p class="mim-text-font">
Watkins, H.
<strong>Sudden death in hypertrophic cardiomyopathy. (Editorial)</strong>
New Eng. J. Med. 342: 422-424, 2000.
[PubMed: 10666434]
[Full Text: https://doi.org/10.1056/NEJM200002103420609]
</p>
</li>
<li>
<p class="mim-text-font">
Wei, J. Y., Weiss, J. L., Bulkley, B. H.
<strong>The heterogeneity of hypertrophic cardiomyopathy: an autopsy and one dimensional echocardiographic study.</strong>
Am. J. Cardiol. 45: 24-32, 1980.
[PubMed: 7188653]
[Full Text: https://doi.org/10.1016/0002-9149(80)90215-5]
</p>
</li>
<li>
<p class="mim-text-font">
Wilson, R., Gibson, T. C., Terrien, C. M., Jr., Levy, A. M.
<strong>Hyperthyroidism and familial hypertrophic cardiomyopathy.</strong>
Arch. Intern. Med. 143: 378-380, 1983.
[PubMed: 6824408]
</p>
</li>
<li>
<p class="mim-text-font">
Wood, R. S., Taylor, W. J., Wheat, M. W., Schiebler, G. L.
<strong>Muscular subaortic stenosis in childhood: report of occurrence in three siblings.</strong>
Pediatrics 30: 749-758, 1962.
</p>
</li>
<li>
<p class="mim-text-font">
Yamaguchi, H., Ishimura, T., Nishiyama, S., Nagasaki, F., Nakanishi, S., Takatsu, F., Nishijo, T., Umeda, T., Machii, K.
<strong>Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients.</strong>
Am. J. Cardiol. 44: 401-412, 1979.
[PubMed: 573056]
[Full Text: https://doi.org/10.1016/0002-9149(79)90388-6]
</p>
</li>
<li>
<p class="mim-text-font">
Yetman, A. T., McCrindle, B. W., MacDonald, C., Freedom, R. M., Gow, R.
<strong>Myocardial bridging in children with hypertrophic cardiomyopathy--a risk factor for sudden death.</strong>
New Eng. J. Med. 339: 1201-1209, 1998.
[PubMed: 9780340]
[Full Text: https://doi.org/10.1056/NEJM199810223391704]
</p>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Contributors:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Ada Hamosh - updated : 11/19/2018<br>Marla J. F. O&#x27;Neill - updated : 07/21/2016<br>Marla J. F. O&#x27;Neill - updated : 4/21/2015<br>Ada Hamosh - updated : 4/28/2014<br>Ada Hamosh - updated : 1/8/2014<br>Marla J. F. O&#x27;Neill - updated : 9/4/2013<br>Marla J. F. O&#x27;Neill - updated : 4/6/2011<br>Marla J. F. O&#x27;Neill - updated : 3/25/2011<br>Marla J. F. O&#x27;Neill - updated : 6/7/2010<br>Marla J. F. O&#x27;Neill - updated : 5/11/2010<br>Marla J. F. O&#x27;Neill - updated : 6/24/2008<br>Marla J. F. O&#x27;Neill - updated : 6/4/2008<br>Marla J. F. O&#x27;Neill - updated : 12/4/2007<br>Marla J. F. O&#x27;Neill - updated : 1/18/2006<br>Carol A. Bocchini - updated : 8/12/2005<br>Marla J. F. O&#x27;Neill - updated : 7/8/2004<br>George E. Tiller - updated : 12/10/2003<br>Victor A. McKusick - updated : 11/18/2003<br>Victor A. McKusick - updated : 11/4/2003<br>Victor A. McKusick - updated : 5/9/2003<br>Victor A. McKusick - updated : 3/19/2003<br>Victor A. McKusick - updated : 11/7/2002<br>Victor A. McKusick - updated : 8/22/2002<br>Paul Brennan - updated : 8/7/2002<br>Michael J. Wright - updated : 7/26/2002<br>Michael J. Wright - updated : 6/28/2002<br>Victor A. McKusick - updated : 8/7/2000<br>Victor A. McKusick - updated : 7/14/2000<br>Paul Brennan - updated : 4/10/2000<br>Victor A. McKusick - updated : 2/15/2000<br>Victor A. McKusick - updated : 12/2/1998<br>Victor A. McKusick - updated : 5/9/1997
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/2/1986
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Edit History:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 11/07/2024<br>alopez : 07/16/2024<br>alopez : 02/22/2024<br>alopez : 03/08/2023<br>ckniffin : 03/08/2023<br>carol : 02/03/2023<br>alopez : 02/01/2023<br>carol : 02/25/2022<br>carol : 10/19/2021<br>alopez : 06/25/2021<br>carol : 05/24/2021<br>carol : 10/07/2019<br>carol : 08/07/2019<br>carol : 11/20/2018<br>carol : 11/19/2018<br>alopez : 07/12/2018<br>carol : 01/08/2018<br>joanna : 08/04/2016<br>carol : 07/21/2016<br>carol : 07/14/2016<br>carol : 6/9/2015<br>ckniffin : 6/2/2015<br>carol : 4/21/2015<br>carol : 4/21/2015<br>alopez : 4/28/2014<br>carol : 3/19/2014<br>alopez : 1/8/2014<br>carol : 10/8/2013<br>mgross : 10/4/2013<br>carol : 9/4/2013<br>carol : 5/24/2013<br>carol : 2/14/2013<br>carol : 6/6/2012<br>terry : 4/26/2011<br>terry : 4/25/2011<br>carol : 4/22/2011<br>wwang : 4/8/2011<br>terry : 4/7/2011<br>terry : 4/7/2011<br>terry : 4/6/2011<br>carol : 3/25/2011<br>terry : 3/25/2011<br>alopez : 1/14/2011<br>carol : 6/8/2010<br>carol : 6/7/2010<br>carol : 6/3/2010<br>wwang : 5/17/2010<br>wwang : 5/12/2010<br>terry : 5/11/2010<br>wwang : 2/16/2010<br>wwang : 2/15/2010<br>carol : 2/4/2010<br>wwang : 2/3/2010<br>wwang : 6/25/2009<br>terry : 6/3/2009<br>terry : 2/10/2009<br>carol : 9/8/2008<br>wwang : 7/14/2008<br>wwang : 6/24/2008<br>carol : 6/4/2008<br>terry : 6/4/2008<br>carol : 12/4/2007<br>terry : 12/4/2007<br>joanna : 2/24/2006<br>alopez : 2/16/2006<br>terry : 2/15/2006<br>wwang : 1/18/2006<br>carol : 8/12/2005<br>carol : 5/9/2005<br>joanna : 3/14/2005<br>carol : 7/8/2004<br>terry : 7/8/2004<br>carol : 6/16/2004<br>carol : 3/30/2004<br>mgross : 12/10/2003<br>mgross : 12/10/2003<br>alopez : 11/18/2003<br>terry : 11/11/2003<br>tkritzer : 11/10/2003<br>tkritzer : 11/6/2003<br>terry : 11/4/2003<br>carol : 5/9/2003<br>terry : 5/9/2003<br>terry : 3/19/2003<br>joanna : 3/4/2003<br>carol : 11/8/2002<br>terry : 11/7/2002<br>carol : 8/23/2002<br>terry : 8/22/2002<br>alopez : 8/7/2002<br>tkritzer : 8/2/2002<br>tkritzer : 8/2/2002<br>tkritzer : 8/1/2002<br>terry : 7/26/2002<br>alopez : 6/28/2002<br>terry : 6/28/2002<br>alopez : 3/12/2002<br>alopez : 3/11/2002<br>alopez : 3/11/2002<br>alopez : 3/11/2002<br>alopez : 3/11/2002<br>mcapotos : 8/28/2000<br>mcapotos : 8/11/2000<br>terry : 8/7/2000<br>carol : 7/14/2000<br>terry : 7/14/2000<br>alopez : 4/12/2000<br>alopez : 4/10/2000<br>alopez : 3/22/2000<br>mcapotos : 2/18/2000<br>mcapotos : 2/18/2000<br>terry : 2/15/2000<br>mgross : 12/6/1999<br>mgross : 11/24/1999<br>terry : 12/11/1998<br>carol : 12/8/1998<br>terry : 12/2/1998<br>terry : 11/11/1997<br>terry : 11/10/1997<br>mark : 7/9/1997<br>alopez : 6/27/1997<br>alopez : 6/3/1997<br>alopez : 5/9/1997<br>alopez : 5/7/1997<br>jamie : 2/26/1997<br>jamie : 2/18/1997<br>jamie : 2/18/1997<br>mark : 8/15/1996<br>mark : 4/29/1996<br>terry : 4/24/1996<br>John : 11/14/1995<br>mimadm : 6/7/1995<br>pfoster : 3/30/1995<br>davew : 8/16/1994<br>carol : 5/11/1994<br>warfield : 3/29/1994
</span>
</div>
</div>
</div>
<div>
<br />
</div>
</div>
</div>
</div>
</div>
<div id="mimFooter">
<div class="container ">
<div class="row">
<br />
<br />
</div>
</div>
<div class="hidden-print mim-footer">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
</div>
</div>
</div>
<div class="visible-print-block mim-footer" style="position: relative;">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
<br />
Printed: March 13, 2025
</div>
</div>
</div>
</div>
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
<div class="modal-dialog" role="document">
<div class="modal-content">
<div class="modal-header">
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">&times;</span></button>
<h4 class="modal-title" id="mimDonationPopupModalTitle">
OMIM Donation:
</h4>
</div>
<div class="modal-body">
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Dear OMIM User,
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
To ensure long-term funding for the OMIM project, we have diversified
our revenue stream. We are determined to keep this website freely
accessible. Unfortunately, it is not free to produce. Expert curators
review the literature and organize it to facilitate your work. Over 90%
of the OMIM's operating expenses go to salary support for MD and PhD
science writers and biocurators. Please join your colleagues by making a
donation now and again in the future. Donations are an important
component of our efforts to ensure long-term funding to provide you the
information that you need at your fingertips.
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Thank you in advance for your generous support, <br />
Ada Hamosh, MD, MPH <br />
Scientific Director, OMIM <br />
</p>
</div>
</div>
</div>
<div class="modal-footer">
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
</div>
</div>
</div>
</div>
</div>
</body>
</html>
Reference in a new issue View git blame Copy permalink