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<meta name="keywords" content="C4310749, cardiomyopathy familial hypertrophic 26, cardiomyopathy, familial hypertrophic, 26, cardiomyopathy, familial hypertrophic, type 26, cardiomyopathy, familial restrictive 5, cardiomyopathy, familial restrictive, 5, cmh26, disease or syndrome, familial hypertrophic cardiomyopathy type 26, flnc, flnc hypertrophic cardiomyopathy, hypertrophic cardiomyopathy 26, hypertrophic cardiomyopathy caused by mutation in flnc, hypertrophic cardiomyopathy type 26, 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 cardiomyopathy caused by mutation in the FLNC gene has been described as hypertrophic, restrictive, dilated, or arrhythmogenic right ventricular cardiomyopathy. Affected individuals, especially those with dilated cardiomyopathy, are at risk for arrhythmias and sudden death. Arrhythmias without cardiomyopathy, and left ventricular noncompaction, have also been reported (Ortiz-Genga et al., 2016; Verdonschot et al., 2020)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=934716
|
||
ConceptID=C4310749
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypertrophic cardiomyopathy 26<span class="h1sub">(CMH26)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934716</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:">C4310749</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Cardiomyopathy, familial hypertrophic, 26</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="FLNC - ID: 2318 - NCBI Gene" href="/gene/2318" class="medgenPMinfo">FLNC</a> (7q32.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014883" target="_blank">MONDO:0014883</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617047" target="_blank">617047</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 cardiomyopathy caused by mutation in the FLNC gene has been described as hypertrophic, restrictive, dilated, or arrhythmogenic right ventricular cardiomyopathy. Affected individuals, especially those with dilated cardiomyopathy, are at risk for arrhythmias and sudden death. Arrhythmias without cardiomyopathy, and left ventricular noncompaction, have also been reported (Ortiz-Genga et al., 2016; Verdonschot et al., 2020). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
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<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_13956"><div><strong>Atrioventricular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13956</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.">C0004245</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/13956">Feature record</a> | <a href="/medgen?term=%22Atrioventricular%20block%22%5BClinical%20Features%5D%20OR%2013956%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2881"><div><strong>Hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2881</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.">C0007194</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2881">Feature record</a> | <a href="/medgen?term=%22Hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%202881%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_9169"><div><strong>Congestive heart failure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9169</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.">C0018802</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9169">Feature record</a> | <a href="/medgen?term=%22Congestive%20heart%20failure%22%5BClinical%20Features%5D%20OR%209169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7286"><div><strong>Left bundle branch block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7286</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.">C0023211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7286">Feature record</a> | <a href="/medgen?term=%22Left%20bundle%20branch%20block%22%5BClinical%20Features%5D%20OR%207286%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7670"><div><strong>Mitral regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7670</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.">C0026266</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7670">Feature record</a> | <a href="/medgen?term=%22Mitral%20regurgitation%22%5BClinical%20Features%5D%20OR%207670%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_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_75547"><div><strong>Left anterior fascicular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75547</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.">C0264912</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Conduction block in the anterior division of the left bundle branch of the bundle of His.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75547">Feature record</a> | <a href="/medgen?term=%22Left%20anterior%20fascicular%20block%22%5BClinical%20Features%5D%20OR%2075547%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_677114"><div><strong>Right atrial enlargement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>677114</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.">C0748427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in size of the right atrium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/677114">Feature record</a> | <a href="/medgen?term=%22Right%20atrial%20enlargement%22%5BClinical%20Features%5D%20OR%20677114%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_294666"><div><strong>Prolonged QTc interval</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>294666</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.">C1560305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/294666">Feature record</a> | <a href="/medgen?term=%22Prolonged%20QTc%20interval%22%5BClinical%20Features%5D%20OR%20294666%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_750308"><div><strong>Permanent atrial fibrillation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>750308</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.">C2586056</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/750308">Feature record</a> | <a href="/medgen?term=%22Permanent%20atrial%20fibrillation%22%5BClinical%20Features%5D%20OR%20750308%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_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_13956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular block</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congestive heart failure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75547" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left anterior fascicular block</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_7286" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left bundle branch block</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral regurgitation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_750308" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Permanent atrial fibrillation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_294666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged QTc interval</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_677114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right atrial enlargement</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></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_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310749[DISCUI]&test_type=Clinical" ref="ncbi_uid=934716">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934716" target="_blank" href="/omim/102565">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934716" ref="ncbi_uid=934716">V</a></span></span><span class="TLline">Hypertrophic cardiomyopathy 26</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871271" ref="tree=MeSH" title="MedGen record for Abnormal myocardium morphology">Abnormal myocardium morphology</a></span><ul><li><span class="TLline"><a href="/medgen/209232" ref="tree=MeSH" title="MedGen record for Cardiomyopathy">Cardiomyopathy</a></span><ul><li><span class="TLline"><a href="/medgen/183649" ref="tree=MeSH" title="MedGen record for Primary familial hypertrophic cardiomyopathy">Primary familial hypertrophic cardiomyopathy</a></span><ul><li><span class="matched_ds">Hypertrophic cardiomyopathy 26</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/2295747">Apical hypertrophic cardiomyopathy: clinical follow-up and diagnostic correlates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Webb JG,
|
||
Sasson Z,
|
||
Rakowski H,
|
||
Liu P,
|
||
Wigle ED</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
1990 Jan;15(1):83-90.
|
||
doi: 10.1016/0735-1097(90)90180-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2295747" target="_blank">2295747</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypertrophic%20cardiomyopathy%2026%22%5Btiab%3A~0%5D)%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 (1)</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/33673806">Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hathaway J,
|
||
Heliö K,
|
||
Saarinen I,
|
||
Tallila J,
|
||
Seppälä EH,
|
||
Tuupanen S,
|
||
Turpeinen H,
|
||
Kangas-Kontio T,
|
||
Schleit J,
|
||
Tommiska J,
|
||
Kytölä V,
|
||
Valori M,
|
||
Muona M,
|
||
Sistonen J,
|
||
Gentile M,
|
||
Salmenperä P,
|
||
Myllykangas S,
|
||
Paananen J,
|
||
Alastalo TP,
|
||
Heliö T,
|
||
Koskenvuo J</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2021 Mar 5;21(1):126.
|
||
doi: 10.1186/s12872-021-01927-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33673806" target="_blank">33673806</a><a href="/pmc/articles/PMC7934228" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31035291">Mavacamten Treatment for Obstructive Hypertrophic Cardiomyopathy: A Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heitner SB,
|
||
Jacoby D,
|
||
Lester SJ,
|
||
Owens A,
|
||
Wang A,
|
||
Zhang D,
|
||
Lambing J,
|
||
Lee J,
|
||
Semigran M,
|
||
Sehnert AJ</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2019 Jun 4;170(11):741-748.
|
||
Epub 2019 Apr 30
|
||
doi: 10.7326/M18-3016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31035291" target="_blank">31035291</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25524337">Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coppini R,
|
||
Ho CY,
|
||
Ashley E,
|
||
Day S,
|
||
Ferrantini C,
|
||
Girolami F,
|
||
Tomberli B,
|
||
Bardi S,
|
||
Torricelli F,
|
||
Cecchi F,
|
||
Mugelli A,
|
||
Poggesi C,
|
||
Tardiff J,
|
||
Olivotto I</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2014 Dec 23;64(24):2589-2600.
|
||
doi: 10.1016/j.jacc.2014.09.059.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25524337" target="_blank">25524337</a><a href="/pmc/articles/PMC4270453" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24111713">Genetics of hypertrophic cardiomyopathy in Norway.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berge KE,
|
||
Leren TP</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2014 Oct;86(4):355-60.
|
||
Epub 2013 Oct 23
|
||
doi: 10.1111/cge.12286.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24111713" target="_blank">24111713</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11984011">Arrhythmias and sudden death in hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McKenna WJ,
|
||
Firoozi S,
|
||
Sharma S</span><br />
|
||
<span class="medgenPMjournal">Card Electrophysiol Rev</span>
|
||
2002 Feb;6(1-2):26-31.
|
||
doi: 10.1023/a:1017966518021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11984011" target="_blank">11984011</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20cardiomyopathy%2026%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 (798)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33673806">Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hathaway J,
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Heliö K,
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<span class="bold">PMID: </span><a href="/pubmed/25524337" target="_blank">25524337</a><a href="/pmc/articles/PMC4270453" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36652223">Effects of Mavacamten on Measures of Cardiopulmonary Exercise Testing Beyond Peak Oxygen Consumption: A Secondary Analysis of the EXPLORER-HCM Randomized Trial.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31035291">Mavacamten Treatment for Obstructive Hypertrophic Cardiomyopathy: A Clinical Trial.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38211509">Society for Cardiovascular Magnetic Resonance 2022 Cases of SCMR case series.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36252119">Genetic Basis of Childhood Cardiomyopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Bagnall RD,
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Singer ES,
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Wacker J,
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Nowak N,
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Ingles J,
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King I,
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Macciocca I,
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Crowe J,
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Ronan A,
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Weintraub RG,
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Semsarian C</span><br />
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2022 Dec;15(6):e003686.
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<span class="bold">PMID: </span><a href="/pubmed/36252119" target="_blank">36252119</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33673806">Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hathaway J,
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Heliö K,
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Saarinen I,
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Tallila J,
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Seppälä EH,
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Tuupanen S,
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Turpeinen H,
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Kangas-Kontio T,
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Schleit J,
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Tommiska J,
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Kytölä V,
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Valori M,
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Muona M,
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Sistonen J,
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Gentile M,
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Salmenperä P,
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Myllykangas S,
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Paananen J,
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Alastalo TP,
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Heliö T,
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<span class="bold">PMID: </span><a href="/pubmed/33673806" target="_blank">33673806</a><a href="/pmc/articles/PMC7934228" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25524337">Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Coppini R,
|
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Ho CY,
|
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Ashley E,
|
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Day S,
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Ferrantini C,
|
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Girolami F,
|
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Tomberli B,
|
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Bardi S,
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Torricelli F,
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Cecchi F,
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Mugelli A,
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Poggesi C,
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Tardiff J,
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Olivotto I</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/25524337" target="_blank">25524337</a><a href="/pmc/articles/PMC4270453" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20cardiomyopathy%2026%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 (551)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<span class="bold">PMID: </span><a href="/pubmed/38753291" target="_blank">38753291</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37672268">Cardiac Remodeling in Subclinical Hypertrophic Cardiomyopathy: The VANISH Randomized Clinical Trial.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33673806">Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hathaway J,
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Heliö K,
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Saarinen I,
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Tallila J,
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Seppälä EH,
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Tuupanen S,
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Turpeinen H,
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Kangas-Kontio T,
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Schleit J,
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Tommiska J,
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Kytölä V,
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Valori M,
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Muona M,
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Sistonen J,
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Gentile M,
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Salmenperä P,
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Myllykangas S,
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Paananen J,
|
||
Alastalo TP,
|
||
Heliö T,
|
||
Koskenvuo J</span><br />
|
||
<span class="medgenPMjournal">BMC Cardiovasc Disord</span>
|
||
2021 Mar 5;21(1):126.
|
||
doi: 10.1186/s12872-021-01927-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33673806" target="_blank">33673806</a><a href="/pmc/articles/PMC7934228" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31035291">Mavacamten Treatment for Obstructive Hypertrophic Cardiomyopathy: A Clinical Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heitner SB,
|
||
Jacoby D,
|
||
Lester SJ,
|
||
Owens A,
|
||
Wang A,
|
||
Zhang D,
|
||
Lambing J,
|
||
Lee J,
|
||
Semigran M,
|
||
Sehnert AJ</span><br />
|
||
<span class="medgenPMjournal">Ann Intern Med</span>
|
||
2019 Jun 4;170(11):741-748.
|
||
Epub 2019 Apr 30
|
||
doi: 10.7326/M18-3016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31035291" target="_blank">31035291</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20cardiomyopathy%2026%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 (516)</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/39471912">Impact of cardiovascular magnetic resonance-derived right ventricular ejection fraction on adverse outcomes: A robust Bayesian model-averaged meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kitano T,
|
||
Bartoš F,
|
||
Nabeshima Y,
|
||
Sayour AA,
|
||
Kovács A,
|
||
Takeuchi M</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Magn Reson</span>
|
||
2024 Winter;26(2):101118.
|
||
Epub 2024 Oct 28
|
||
doi: 10.1016/j.jocmr.2024.101118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39471912" target="_blank">39471912</a><a href="/pmc/articles/PMC11663767" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35842920">Blood-based biomarkers for the prediction of hypertrophic cardiomyopathy prognosis: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jansen M,
|
||
Algül S,
|
||
Bosman LP,
|
||
Michels M,
|
||
van der Velden J,
|
||
de Boer RA,
|
||
van Tintelen JP,
|
||
Asselbergs FW,
|
||
Baas AF</span><br />
|
||
<span class="medgenPMjournal">ESC Heart Fail</span>
|
||
2022 Oct;9(5):3418-3434.
|
||
Epub 2022 Jul 17
|
||
doi: 10.1002/ehf2.14073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35842920" target="_blank">35842920</a><a href="/pmc/articles/PMC9715795" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35427704">Outcomes of pregnancy in women with hypertrophic cardiomyopathy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moolla M,
|
||
Mathew A,
|
||
John K,
|
||
Yogasundaram H,
|
||
Alhumaid W,
|
||
Campbell S,
|
||
Windram J</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2022 Jul 15;359:54-60.
|
||
Epub 2022 Apr 12
|
||
doi: 10.1016/j.ijcard.2022.04.034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35427704" target="_blank">35427704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34837725">Factors associated with the risk of cardiac death in children with hypertrophic cardiomyopathy: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xia K,
|
||
Sun D,
|
||
Wang R,
|
||
Zhang Y</span><br />
|
||
<span class="medgenPMjournal">Heart Lung</span>
|
||
2022 Mar-Apr;52:26-36.
|
||
Epub 2021 Nov 24
|
||
doi: 10.1016/j.hrtlng.2021.11.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34837725" target="_blank">34837725</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33720274">Assessment of Postnatal Corticosteroids for the Prevention of Bronchopulmonary Dysplasia in Preterm Neonates: A Systematic Review and Network Meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramaswamy VV,
|
||
Bandyopadhyay T,
|
||
Nanda D,
|
||
Bandiya P,
|
||
Ahmed J,
|
||
Garg A,
|
||
Roehr CC,
|
||
Nangia S</span><br />
|
||
<span class="medgenPMjournal">JAMA Pediatr</span>
|
||
2021 Jun 1;175(6):e206826.
|
||
Epub 2021 Jun 7
|
||
doi: 10.1001/jamapediatrics.2020.6826.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33720274" target="_blank">33720274</a><a href="/pmc/articles/PMC7961472" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20cardiomyopathy%2026%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 (23)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4310749%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310749%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310749%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310749%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (32)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310749%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4310749%5bDISCUI%5d" target="_blank">See all (36)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617047" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hypertrophic%20cardiomyopathy%2026" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypertrophic%20cardiomyopathy%2026%22%5Btiab%3A~0%5D)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
|
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|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=102565" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2318[geneid]" target="_blank">View FLNC variations in ClinVar</a></li><li><a href="/nuccore/226533583" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=617047" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/cardiomyopathy_familial_hypertrophic_26" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hypertrophic%20cardiomyopathy%2026" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
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|
||
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|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Hypertrophic%20cardiomyopathy%2026" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Hypertrophic%20cardiomyopathy%2026%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
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|
||
<h3>Related information</h3>
|
||
</div>
|
||
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||
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|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=934716" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=934716" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4310749[DISCUI]" ref="log$=recordlinks">GTR</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C4310749[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=934716" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=934716" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=934716" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=934716" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=934716" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
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|
||
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|
||
|
||
|
||
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|
||
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||
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
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Clear
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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