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<meta name="keywords" content="C5543616, cardiomyopathy, familial hypertrophic, 28, cmh28, disease or syndrome, fhod3, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Familial hypertrophic cardiomyopathy-28 (CMH28) is characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Dyspnea is the most common symptom, but more than half of affected individuals are asymptomatic. Hypertrabeculation of the left ventricle with noncompaction has been observed in some patients (Ochoa et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1779612
|
||
ConceptID=C5543616
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cardiomyopathy, familial hypertrophic, 28<span class="h1sub">(CMH28)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1779612</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C5543616</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="FHOD3 - ID: 80206 - NCBI Gene" href="/gene/80206" class="medgenPMinfo">FHOD3</a> (18q12.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030317" target="_blank">MONDO:0030317</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619402" target="_blank">619402</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Familial hypertrophic cardiomyopathy-28 (CMH28) is characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Dyspnea is the most common symptom, but more than half of affected individuals are asymptomatic. Hypertrabeculation of the left ventricle with noncompaction has been observed in some patients (Ochoa et al., 2018). For a general phenotypic description and discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_38841"><div><strong>Sudden cardiac death</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38841</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0085298</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/38841">Feature record</a> | <a href="/medgen?term=%22Sudden%20cardiac%20death%22%5BClinical%20Features%5D%20OR%2038841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_445"><div><strong>Atrial fibrillation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>445</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0004238</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/445">Feature record</a> | <a href="/medgen?term=%22Atrial%20fibrillation%22%5BClinical%20Features%5D%20OR%20445%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6031"><div><strong>Left ventricular outflow tract obstruction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6031</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023213</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6031">Feature record</a> | <a href="/medgen?term=%22Left%20ventricular%20outflow%20tract%20obstruction%22%5BClinical%20Features%5D%20OR%206031%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52522"><div><strong>Stroke disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52522</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038454</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52522">Feature record</a> | <a href="/medgen?term=%22Stroke%20disorder%22%5BClinical%20Features%5D%20OR%2052522%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_104705"><div><strong>Asymmetric septal hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>104705</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0205700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/104705">Feature record</a> | <a href="/medgen?term=%22Asymmetric%20septal%20hypertrophy%22%5BClinical%20Features%5D%20OR%20104705%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68651"><div><strong>Concentric hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68651</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0238044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68651">Feature record</a> | <a href="/medgen?term=%22Concentric%20hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%2068651%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_536845"><div><strong>Left atrial enlargement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>536845</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0238705</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in size of the left atrium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/536845">Feature record</a> | <a href="/medgen?term=%22Left%20atrial%20enlargement%22%5BClinical%20Features%5D%20OR%20536845%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868398"><div><strong>Reduced left ventricular ejection fraction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868398</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4022792</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868398">Feature record</a> | <a href="/medgen?term=%22Reduced%20left%20ventricular%20ejection%20fraction%22%5BClinical%20Features%5D%20OR%20868398%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1664719"><div><strong>Systolic anterior motion of the mitral valve</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1664719</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4049276</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1664719">Feature record</a> | <a href="/medgen?term=%22Systolic%20anterior%20motion%20of%20the%20mitral%20valve%22%5BClinical%20Features%5D%20OR%201664719%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1671104"><div><strong>Apical hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1671104</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4732796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1671104">Feature record</a> | <a href="/medgen?term=%22Apical%20hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%201671104%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1783233"><div><strong>Myocardial late gadolinium enhancement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1783233</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5539856</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1783233">Feature record</a> | <a href="/medgen?term=%22Myocardial%20late%20gadolinium%20enhancement%22%5BClinical%20Features%5D%20OR%201783233%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1671104" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apical hypertrophic cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_104705" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Asymmetric septal hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial fibrillation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Concentric hypertrophic cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_536845" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left atrial enlargement</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left ventricular outflow tract obstruction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1783233" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myocardial late gadolinium enhancement</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868398" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced left ventricular ejection fraction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stroke disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1664719" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Systolic anterior motion of the mitral valve</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_38841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sudden cardiac death</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38427064">Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaski JP,
|
||
Norrish G,
|
||
Gimeno Blanes JR,
|
||
Charron P,
|
||
Elliott P,
|
||
Tavazzi L,
|
||
Tendera M,
|
||
Laroche C,
|
||
Maggioni AP,
|
||
Baban A,
|
||
Khraiche D,
|
||
Ziolkowska L,
|
||
Limongelli G,
|
||
Ojala T,
|
||
Gorenflo M,
|
||
Anastasakis A,
|
||
Mostafa S,
|
||
Caforio ALP;
|
||
EORP Paediatric Cardiomyopathy Registry Investigators</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2024 Apr 21;45(16):1443-1454.
|
||
doi: 10.1093/eurheartj/ehae109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38427064" target="_blank">38427064</a><a href="/pmc/articles/PMC11448693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38014537">Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curran L,
|
||
de Marvao A,
|
||
Inglese P,
|
||
McGurk KA,
|
||
Schiratti PR,
|
||
Clement A,
|
||
Zheng SL,
|
||
Li S,
|
||
Pua CJ,
|
||
Shah M,
|
||
Jafari M,
|
||
Theotokis P,
|
||
Buchan RJ,
|
||
Jurgens SJ,
|
||
Raphael CE,
|
||
Baksi AJ,
|
||
Pantazis A,
|
||
Halliday BP,
|
||
Pennell DJ,
|
||
Bai W,
|
||
Chin CWL,
|
||
Tadros R,
|
||
Bezzina CR,
|
||
Watkins H,
|
||
Cook SA,
|
||
Prasad SK,
|
||
Ware JS,
|
||
O'Regan DP</span><br />
|
||
<span class="medgenPMjournal">Circ Genom Precis Med</span>
|
||
2023 Dec;16(6):e004200.
|
||
Epub 2023 Nov 28
|
||
doi: 10.1161/CIRCGEN.123.004200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38014537" target="_blank">38014537</a><a href="/pmc/articles/PMC10729901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31408576">Hypertrophic cardiomyopathy genetic test reports: A qualitative study of patient understanding of uninformative genetic test results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nightingale BM,
|
||
Hovick SR,
|
||
Brock P,
|
||
Callahan E,
|
||
Jordan E,
|
||
Roggenbuck J,
|
||
Sturm AC,
|
||
Morales A</span><br />
|
||
<span class="medgenPMjournal">J Genet Couns</span>
|
||
2019 Dec;28(6):1087-1097.
|
||
Epub 2019 Aug 13
|
||
doi: 10.1002/jgc4.1159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31408576" target="_blank">31408576</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cardiomyopathy%2C%20familial%20hypertrophic%2C%2028)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (7)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38427064">Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaski JP,
|
||
Norrish G,
|
||
Gimeno Blanes JR,
|
||
Charron P,
|
||
Elliott P,
|
||
Tavazzi L,
|
||
Tendera M,
|
||
Laroche C,
|
||
Maggioni AP,
|
||
Baban A,
|
||
Khraiche D,
|
||
Ziolkowska L,
|
||
Limongelli G,
|
||
Ojala T,
|
||
Gorenflo M,
|
||
Anastasakis A,
|
||
Mostafa S,
|
||
Caforio ALP;
|
||
EORP Paediatric Cardiomyopathy Registry Investigators</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2024 Apr 21;45(16):1443-1454.
|
||
doi: 10.1093/eurheartj/ehae109.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38427064" target="_blank">38427064</a><a href="/pmc/articles/PMC11448693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38014537">Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Curran L,
|
||
de Marvao A,
|
||
Inglese P,
|
||
McGurk KA,
|
||
Schiratti PR,
|
||
Clement A,
|
||
Zheng SL,
|
||
Li S,
|
||
Pua CJ,
|
||
Shah M,
|
||
Jafari M,
|
||
Theotokis P,
|
||
Buchan RJ,
|
||
Jurgens SJ,
|
||
Raphael CE,
|
||
Baksi AJ,
|
||
Pantazis A,
|
||
Halliday BP,
|
||
Pennell DJ,
|
||
Bai W,
|
||
Chin CWL,
|
||
Tadros R,
|
||
Bezzina CR,
|
||
Watkins H,
|
||
Cook SA,
|
||
Prasad SK,
|
||
Ware JS,
|
||
O'Regan DP</span><br />
|
||
<span class="medgenPMjournal">Circ Genom Precis Med</span>
|
||
2023 Dec;16(6):e004200.
|
||
Epub 2023 Nov 28
|
||
doi: 10.1161/CIRCGEN.123.004200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38014537" target="_blank">38014537</a><a href="/pmc/articles/PMC10729901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36917398">The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsabedze N,
|
||
Ramsay M,
|
||
Krause A,
|
||
Wells Q,
|
||
Mpanya D,
|
||
Manga P</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Rev</span>
|
||
2023 Jul;28(4):879-892.
|
||
Epub 2023 Mar 14
|
||
doi: 10.1007/s10741-023-10302-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36917398" target="_blank">36917398</a><a href="/pmc/articles/PMC10011790" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36028969">Hypertrophic Cardiomyopathy in Saudi Arabia: A Systematic Review of the Epidemiological, Clinical, and Imaging Features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajab BS</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rev</span>
|
||
2023;19(2):e250822208003.
|
||
doi: 10.2174/1573403X18666220825153725.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36028969" target="_blank">36028969</a><a href="/pmc/articles/PMC10201901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25623178">Optimized pacing mode for hypertrophic cardiomyopathy: Impact of ECG fusion during pacing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berruezo A,
|
||
Penela D,
|
||
Burgos F,
|
||
Evertz R,
|
||
Fernández-Armenta J,
|
||
Roca J,
|
||
Doltra A,
|
||
Acosta J,
|
||
Francino A,
|
||
Sitges M,
|
||
Alsina X,
|
||
Ordoñez A,
|
||
Villuendas R,
|
||
Brugada R,
|
||
Mont L,
|
||
Brugada J</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2015 May;12(5):909-16.
|
||
Epub 2015 Jan 23
|
||
doi: 10.1016/j.hrthm.2015.01.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25623178" target="_blank">25623178</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%2C%20familial%20hypertrophic%2C%2028%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (47)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38708810">A Review of Pediatric Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schauer JS,
|
||
Hong B</span><br />
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">Lin LR,
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Hu XQ,
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<div class="nl"><a target="_blank" href="/pubmed/29661763">Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy.</a></div>
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Schinkel AFL,
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Baart SJ,
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<span class="bold">PMID: </span><a href="/pubmed/29661763" target="_blank">29661763</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/29397107">Platelet Function Analyzer 100 and Brain Natriuretic Peptide as Biomarkers in Obstructive Hypertrophic Cardiomyopathy.</a></div>
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Thomas CS,
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Ackerman MJ,
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<div class="nl"><a target="_blank" href="/pubmed/27794017">Predictors of atrial fibrillation in hypertrophic cardiomyopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Guttmann OP,
|
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Pavlou M,
|
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O'Mahony C,
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Monserrat L,
|
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Anastasakis A,
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Rapezzi C,
|
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Biagini E,
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Gimeno JR,
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Limongelli G,
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Garcia-Pavia P,
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McKenna WJ,
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Omar RZ,
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Elliott PM;
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Hypertrophic Cardiomyopathy Outcomes Investigators</span><br />
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<span class="medgenPMjournal">Heart</span>
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2017 May;103(9):672-678.
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Epub 2016 Oct 28
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doi: 10.1136/heartjnl-2016-309672.
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<span class="bold">PMID: </span><a href="/pubmed/27794017" target="_blank">27794017</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%2C%20familial%20hypertrophic%2C%2028%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (33)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38459932">Biochemical characterization of cardiac α-actin mutations A21V and D26N implicated in hypertrophic cardiomyopathy.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/38459932" target="_blank">38459932</a><a href="/pmc/articles/PMC11615838" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35717150">MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin LR,
|
||
Hu XQ,
|
||
Lu LH,
|
||
Dai JZ,
|
||
Lin NN,
|
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Wang RH,
|
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Xie ZX,
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Chen XM</span><br />
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<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
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2022 Jun 18;22(1):278.
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doi: 10.1186/s12872-022-02714-6.
|
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<span class="bold">PMID: </span><a href="/pubmed/35717150" target="_blank">35717150</a><a href="/pmc/articles/PMC9206743" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29661763">Outcomes of Contemporary Family Screening in Hypertrophic Cardiomyopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">van Velzen HG,
|
||
Schinkel AFL,
|
||
Baart SJ,
|
||
Oldenburg RA,
|
||
Frohn-Mulder IME,
|
||
van Slegtenhorst MA,
|
||
Michels M</span><br />
|
||
<span class="medgenPMjournal">Circ Genom Precis Med</span>
|
||
2018 Apr;11(4):e001896.
|
||
doi: 10.1161/CIRCGEN.117.001896.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29661763" target="_blank">29661763</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27794017">Predictors of atrial fibrillation in hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guttmann OP,
|
||
Pavlou M,
|
||
O'Mahony C,
|
||
Monserrat L,
|
||
Anastasakis A,
|
||
Rapezzi C,
|
||
Biagini E,
|
||
Gimeno JR,
|
||
Limongelli G,
|
||
Garcia-Pavia P,
|
||
McKenna WJ,
|
||
Omar RZ,
|
||
Elliott PM;
|
||
Hypertrophic Cardiomyopathy Outcomes Investigators</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2017 May;103(9):672-678.
|
||
Epub 2016 Oct 28
|
||
doi: 10.1136/heartjnl-2016-309672.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27794017" target="_blank">27794017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27841901">Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ntusi NA,
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Shaboodien G,
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Badri M,
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Gumedze F,
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<span class="medgenPMjournal">Cardiovasc J Afr</span>
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|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%2C%20familial%20hypertrophic%2C%2028%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36028969">Hypertrophic Cardiomyopathy in Saudi Arabia: A Systematic Review of the Epidemiological, Clinical, and Imaging Features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajab BS</span><br />
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<span class="medgenPMjournal">Curr Cardiol Rev</span>
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<span class="bold">PMID: </span><a href="/pubmed/36028969" target="_blank">36028969</a><a href="/pmc/articles/PMC10201901" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%2C%20familial%20hypertrophic%2C%2028%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5543616%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C5543616%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C5543616%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C5543616%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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