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<meta name="keywords" content="C3495498, asymmetric septal hypertrophy, cardiomyopathy, familial hypertrophic 1, cardiomyopathy, familial hypertrophic, 1, cardiomyopathy, familial hypertrophic, autosomal dominant, digenic dominant, cardiomyopathy, familial hypertrophic, type 1, cardiomyopathy, hypertrophic, 1, autosomal dominant, digenic dominant, cardiomyopathy, hypertrophic, 1, digenic, autosomal dominant, digenic dominant, cav3, cmh, cmh1, disease or syndrome, familial hypertrophic cardiomyopathy 1, familial hypertrophic cardiomyopathy type 1, hereditary ventricular hypertrophy, hypertrophic cardiomyopathy 1, hypertrophic cardiomyopathy caused by mutation in myh7, hypertrophic cardiomyopathy type 1, hypertrophic subaortic stenosis, idiopathic, idiopathic hypertrophic subaortic stenosis, myh6, myh7, myh7 hypertrophic cardiomyopathy, myh7-related familial hypertrophic cardiomyopathy, mylk2, ventricular hypertrophy, hereditary, 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="Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=501195
|
||
ConceptID=C3495498
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypertrophic cardiomyopathy 1<span class="h1sub">(CMH1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501195</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:">C3495498</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>Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy</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">Genes (locations):<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="CAV3 - ID: 859 - NCBI Gene" href="/gene/859" class="medgenPMinfo">CAV3</a> (3p25.3); <a target="_blank" title="MYH6 - ID: 4624 - NCBI Gene" href="/gene/4624" class="medgenPMinfo">MYH6</a> (14q11.2); <a target="_blank" title="MYH7 - ID: 4625 - NCBI Gene" href="/gene/4625" class="medgenPMinfo">MYH7</a> (14q11.2); <a target="_blank" title="MYLK2 - ID: 85366 - NCBI Gene" href="/gene/85366" class="medgenPMinfo">MYLK2</a> (20q11.21)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0008647" target="_blank">MONDO:0008647</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/192600" target="_blank">192600</a></td></tr>
|
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</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>
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<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>
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||
<div class="portlet_content ln">Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood. [from <a title="National Center for Biotechnology Information" href="https://www.ncbi.nlm.nih.gov/ " class="defSource" target="_blank">NCBI</a>]</div>
|
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</div>
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||
|
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From NCBI curation</strong><br />Hypertrophic cardiomyopathy (HCM) is typically defined by the presence of unexplained left ventricular hypertrophy (LVH). Such LVH occurs in a non-dilated ventricle in the absence of other cardiac or systemic disease capable of producing the observed magnitude of increased LV wall thickness, such as pressure overload (e.g., long-standing hypertension, aortic stenosis) or storage/infiltrative disorders (e.g., Fabry disease, amyloidosis). The clinical manifestations of HCM range from asymptomatic LVH to progressive heart failure to sudden cardiac death (SCD), and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood.</div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.<br /><br />The symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.<br /><br />Nonfamilial hypertrophic cardiomyopathy tends to be milder. This form typically begins later in life than familial hypertrophic cardiomyopathy, and affected individuals have a lower risk of serious cardiac events and sudden death than people with the familial form.<br /><br />In familial hypertrophic cardiomyopathy, cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Familial hypertrophic cardiomyopathy often begins in adolescence or young adulthood, although it can develop at any time throughout life.<br /><br />Hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy. <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-hypertrophic-cardiomyopathy">https://medlineplus.gov/genetics/condition/familial-hypertrophic-cardiomyopathy</a></div></div>
|
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</div>
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||
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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_8257"><div><strong>Sudden death</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8257</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.">C0011071</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rapid and unexpected death.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8257">Feature record</a> | <a href="/medgen?term=%22Sudden%20death%22%5BClinical%20Features%5D%20OR%208257%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2039"><div><strong>Cardiac arrhythmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2039</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.">C0003811</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2039">Feature record</a> | <a href="/medgen?term=%22Cardiac%20arrhythmia%22%5BClinical%20Features%5D%20OR%202039%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_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>
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<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>
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<div class="divPopper rprt" id="clin_90950"><div><strong>Subvalvular aortic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90950</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.">C0340375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/90950">Feature record</a> | <a href="/medgen?term=%22Subvalvular%20aortic%20stenosis%22%5BClinical%20Features%5D%20OR%2090950%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">
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<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">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2039" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac arrhythmia</a></span></li><li class="TLline">
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<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">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_90950" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Subvalvular aortic stenosis</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8257" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sudden death</a></span></li></ul></li></ul></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0686353[DISCUI]&test_type=Clinical" ref="ncbi_uid=151940">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=151940" ref="ncbi_uid=151940">V</a></span></span><span class="TLline"><a href="/medgen/151940" ref="tree=GTR&ncbi_uid=151940&link_uid=151940" title="View MedGen record for 'Limb-girdle muscular dystrophy'">Limb-girdle muscular dystrophy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931907[DISCUI]&test_type=Clinical" ref="ncbi_uid=419194">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=419194" ref="ncbi_uid=419194">V</a></span></span><span class="TLline"><a href="/medgen/419194" ref="tree=GTR&ncbi_uid=419194&link_uid=419194" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy'">Autosomal recessive limb-girdle muscular dystrophy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1869123[DISCUI]&test_type=Clinical" ref="ncbi_uid=358391">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358391" target="_blank" href="/omim/114240">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1313/" ref="ncbi_uid=358391">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358391" ref="ncbi_uid=358391">V</a></span></span><span class="TLline"><a href="/medgen/358391" ref="tree=GTR&ncbi_uid=358391&link_uid=358391" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2A'">Autosomal recessive limb-girdle muscular dystrophy type 2A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866008[DISCUI]&test_type=Clinical" ref="ncbi_uid=400895">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400895" target="_blank" href="/omim/601954">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=400895" ref="ncbi_uid=400895">V</a></span></span><span class="TLline"><a href="/medgen/400895" ref="tree=GTR&ncbi_uid=400895&link_uid=400895" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2G'">Autosomal recessive limb-girdle muscular dystrophy type 2G</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837342[DISCUI]&test_type=Clinical" ref="ncbi_uid=324741">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=324741" target="_blank" href="/omim/188840">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=324741" ref="ncbi_uid=324741">V</a></span></span><span class="TLline"><a href="/medgen/324741" ref="tree=GTR&ncbi_uid=324741&link_uid=324741" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2J'">Autosomal recessive limb-girdle muscular dystrophy type 2J</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969785[DISCUI]&test_type=Clinical" ref="ncbi_uid=370102">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=370102" target="_blank" href="/omim/608662">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK114459/" ref="ncbi_uid=370102">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=370102" ref="ncbi_uid=370102">V</a></span></span><span class="TLline"><a href="/medgen/370102" ref="tree=GTR&ncbi_uid=370102&link_uid=370102" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2L'">Autosomal recessive limb-girdle muscular dystrophy type 2L</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4511963[DISCUI]&test_type=Clinical" ref="ncbi_uid=1386785">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1386785" target="_blank" href="/omim/128239">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=1386785" ref="ncbi_uid=1386785">V</a></span></span><span class="TLline"><a href="/medgen/1386785" ref="tree=GTR&ncbi_uid=1386785&link_uid=1386785" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2P'">Autosomal recessive limb-girdle muscular dystrophy type 2P</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150989[DISCUI]&test_type=Clinical" ref="ncbi_uid=462339">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462339" target="_blank" href="/omim/601282">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=462339" ref="ncbi_uid=462339">V</a></span></span><span class="TLline"><a href="/medgen/462339" ref="tree=GTR&ncbi_uid=462339&link_uid=462339" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2Q'">Autosomal recessive limb-girdle muscular dystrophy type 2Q</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4517996[DISCUI]&test_type=Clinical" ref="ncbi_uid=1385598">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1385598" target="_blank" href="/omim/614138">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=1385598" ref="ncbi_uid=1385598">V</a></span></span><span class="TLline"><a href="/medgen/1385598" ref="tree=GTR&ncbi_uid=1385598&link_uid=1385598" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type R18'">Autosomal recessive limb-girdle muscular dystrophy type R18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0457133[DISCUI]&test_type=Clinical" ref="ncbi_uid=105341">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=105341" ref="ncbi_uid=105341">V</a></span></span><span class="TLline"><a href="/medgen/105341" ref="tree=GTR&ncbi_uid=105341&link_uid=105341" title="View MedGen record for 'Muscle eye brain disease'">Muscle eye brain disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151519[DISCUI]&test_type=Clinical" ref="ncbi_uid=462869">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462869" target="_blank" href="/omim/253280">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=462869" ref="ncbi_uid=462869">V</a></span></span><span class="TLline"><a href="/medgen/462869" ref="tree=GTR&ncbi_uid=462869&link_uid=462869" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751052[DISCUI]&test_type=Clinical" ref="ncbi_uid=413465">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413465" target="_blank" href="/omim/607440">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=413465" ref="ncbi_uid=413465">V</a></span></span><span class="TLline"><a href="/medgen/413465" ref="tree=GTR&ncbi_uid=413465&link_uid=413465" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4'">Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847759[DISCUI]&test_type=Clinical" ref="ncbi_uid=335764">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335764" target="_blank" href="/omim/606612">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=335764" ref="ncbi_uid=335764">V</a></span></span><span class="TLline"><a href="/medgen/335764" ref="tree=GTR&ncbi_uid=335764&link_uid=335764" title="View MedGen record for 'Muscular dystrophy-dystroglycanopathy type B5'">Muscular dystrophy-dystroglycanopathy type B5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2931687[DISCUI]&test_type=Clinical" ref="ncbi_uid=419874">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1303/" ref="ncbi_uid=419874">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=419874" ref="ncbi_uid=419874">V</a></span></span><span class="TLline"><a href="/medgen/419874" ref="tree=GTR&ncbi_uid=419874&link_uid=419874" title="View MedGen record for 'Qualitative or quantitative defects of dysferlin'">Qualitative or quantitative defects of dysferlin</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1850889[DISCUI]&test_type=Clinical" ref="ncbi_uid=338149">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338149" target="_blank" href="/omim/253601">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1303/" ref="ncbi_uid=338149">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=338149" ref="ncbi_uid=338149">V</a></span></span><span class="TLline"><a href="/medgen/338149" ref="tree=GTR&ncbi_uid=338149&link_uid=338149" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2B'">Autosomal recessive limb-girdle muscular dystrophy type 2B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551973[DISCUI]&test_type=Clinical" ref="ncbi_uid=1640757">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1640757" target="_blank" href="/omim/254130">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1303/" ref="ncbi_uid=1640757">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1640757" ref="ncbi_uid=1640757">V</a></span></span><span class="TLline"><a href="/medgen/1640757" ref="tree=GTR&ncbi_uid=1640757&link_uid=1640757" title="View MedGen record for 'Miyoshi muscular dystrophy 1'">Miyoshi muscular dystrophy 1</a></span></li></ul></li><li class="TLclosed"><span class="TLline"><a href="/medgen/424705" ref="tree=GTR&ncbi_uid=424705&link_uid=424705" title="View MedGen record for 'Sarcoglycanopathy'">Sarcoglycanopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410173[DISCUI]&test_type=Clinical" ref="ncbi_uid=98045">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98045" target="_blank" href="/omim/253700">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=98045" ref="ncbi_uid=98045">V</a></span></span><span class="TLline"><a href="/medgen/98045" ref="tree=GTR&ncbi_uid=98045&link_uid=98045" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2C'">Autosomal recessive limb-girdle muscular dystrophy type 2C</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2936332[DISCUI]&test_type=Clinical" ref="ncbi_uid=424706">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=424706" target="_blank" href="/omim/600119">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=424706" ref="ncbi_uid=424706">V</a></span></span><span class="TLline"><a href="/medgen/424706" ref="tree=GTR&ncbi_uid=424706&link_uid=424706" title="View MedGen record for 'Autosomal recessive limb-girdle muscular dystrophy type 2D'">Autosomal recessive limb-girdle muscular dystrophy type 2D</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930900[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=418943">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=418943" ref="ncbi_uid=418943">V</a></span></span><span class="TLline"><a href="/medgen/418943" ref="tree=GTR&ncbi_uid=418943&link_uid=418943" title="View MedGen record for 'Qualitative or quantitative defects of beta-sarcoglycan'">Qualitative or quantitative defects of beta-sarcoglycan</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5680806[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1826098">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=1826098" ref="ncbi_uid=1826098">V</a></span></span><span class="TLline"><a href="/medgen/1826098" ref="tree=GTR&ncbi_uid=1826098&link_uid=1826098" title="View MedGen record for 'Qualitative or quantitative defects of delta-sarcoglycan'">Qualitative or quantitative defects of delta-sarcoglycan</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0270968[DISCUI]&test_type=Clinical" ref="ncbi_uid=78750">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78750" target="_blank" href="/omim/254110">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=78750" ref="ncbi_uid=78750">V</a></span></span><span class="TLline"><a href="/medgen/78750" ref="tree=GTR&ncbi_uid=78750&link_uid=78750" title="View MedGen record for 'Sarcotubular myopathy'">Sarcotubular myopathy</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5675009[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826162">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=1826162" ref="ncbi_uid=1826162">V</a></span></span><span class="TLline"><a href="/medgen/1826162" ref="tree=GTR&ncbi_uid=1826162&link_uid=1826162" title="View MedGen record for 'Muscular dystrophy, limb-girdle, autosomal dominant'">Muscular dystrophy, limb-girdle, autosomal dominant</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4721885[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648441">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648441" target="_blank" href="/omim/603511">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=1648441" ref="ncbi_uid=1648441">V</a></span></span><span class="TLline"><a href="/medgen/1648441" ref="tree=GTR&ncbi_uid=1648441&link_uid=1648441" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)'">Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842062[DISCUI]&test_type=Clinical" ref="ncbi_uid=333983">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333983" target="_blank" href="/omim/608423">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=333983" ref="ncbi_uid=333983">V</a></span></span><span class="TLline"><a href="/medgen/333983" ref="tree=GTR&ncbi_uid=333983&link_uid=333983" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1F'">Autosomal dominant limb-girdle muscular dystrophy type 1F</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1836765[DISCUI]&test_type=Clinical" ref="ncbi_uid=322993">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322993" target="_blank" href="/omim/607137">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=322993" ref="ncbi_uid=322993">V</a></span></span><span class="TLline"><a href="/medgen/322993" ref="tree=GTR&ncbi_uid=322993&link_uid=322993" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1G'">Autosomal dominant limb-girdle muscular dystrophy type 1G</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150786[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=462136">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462136" target="_blank" href="/omim/613530">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/462136" ref="tree=GTR&ncbi_uid=462136&link_uid=462136" title="View MedGen record for 'Autosomal dominant limb-girdle muscular dystrophy type 1H'">Autosomal dominant limb-girdle muscular dystrophy type 1H</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5679790[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826055">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</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=1826055" ref="ncbi_uid=1826055">V</a></span></span><span class="TLline"><a href="/medgen/1826055" ref="tree=GTR&ncbi_uid=1826055&link_uid=1826055" title="View MedGen record for 'Caveolinopathy'">Caveolinopathy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0241005[DISCUI]&test_type=Clinical" ref="ncbi_uid=69128">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=69128" target="_blank" href="/omim/123320">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=69128" ref="ncbi_uid=69128">V</a></span></span><span class="TLline"><a href="/medgen/69128" ref="tree=GTR&ncbi_uid=69128&link_uid=69128" title="View MedGen record for 'Elevated circulating creatine kinase concentration'">Elevated circulating creatine kinase concentration</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3495498[DISCUI]&test_type=Clinical" ref="ncbi_uid=501195">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501195" target="_blank" href="/omim/160760">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1768/" ref="ncbi_uid=501195">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=501195" ref="ncbi_uid=501195">V</a></span></span><span class="TLline">Hypertrophic cardiomyopathy 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832560[DISCUI]&test_type=Clinical" ref="ncbi_uid=371357">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371357" target="_blank" href="/omim/601253">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=371357" ref="ncbi_uid=371357">V</a></span></span><span class="TLline"><a href="/medgen/371357" ref="tree=GTR&ncbi_uid=371357&link_uid=371357" title="View MedGen record for 'Rippling muscle disease 2'">Rippling muscle disease 2</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832370[DISCUI]&test_type=Clinical" ref="ncbi_uid=330449">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=330449" target="_blank" href="/omim/125660">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1309/" ref="ncbi_uid=330449">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=330449" ref="ncbi_uid=330449">V</a></span></span><span class="TLline"><a href="/medgen/330449" ref="tree=GTR&ncbi_uid=330449&link_uid=330449" title="View MedGen record for 'Desmin-related myofibrillar myopathy'">Desmin-related myofibrillar myopathy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0410190[DISCUI]&test_type=Clinical" ref="ncbi_uid=98048">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98048" target="_blank" href="/omim/150330">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1436/" ref="ncbi_uid=98048">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=98048" ref="ncbi_uid=98048">V</a></span></span><span class="TLline"><a href="/medgen/98048" ref="tree=GTR&ncbi_uid=98048&link_uid=98048" title="View MedGen record for 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant'">Emery-Dreifuss muscular dystrophy 2, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3714934[DISCUI]&test_type=Clinical" ref="ncbi_uid=811509">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811509" target="_blank" href="/omim/604103">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=811509" ref="ncbi_uid=811509">V</a></span></span><span class="TLline"><a href="/medgen/811509" ref="tree=GTR&ncbi_uid=811509&link_uid=811509" title="View MedGen record for 'Myofibrillar myopathy 3'">Myofibrillar myopathy 3</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/536898" ref="tree=MeSH" title="MedGen record for Abnormality of limbs">Abnormality of limbs</a></span><ul><li><span class="TLline"><a href="/medgen/870150" ref="tree=MeSH" title="MedGen record for Abnormality of the musculature of the limbs">Abnormality of the musculature of the limbs</a></span><ul><li><span class="TLline"><a href="/medgen/330868" ref="tree=MeSH" title="MedGen record for Limb-girdle muscle atrophy">Limb-girdle muscle atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/151940" ref="tree=MeSH" title="MedGen record for Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1826162" ref="tree=MeSH" title="MedGen record for Muscular dystrophy, limb-girdle, autosomal dominant">Muscular dystrophy, limb-girdle, autosomal dominant</a></span><ul><li><span class="TLline"><a href="/medgen/1826055" ref="tree=MeSH" title="MedGen record for Caveolinopathy">Caveolinopathy</a></span><ul><li><span class="matched_ds">Hypertrophic cardiomyopathy 1</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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|
||
<div class="portlet mgSection" id="ID_105">
|
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<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/24315964">Electrocardiography-inclusive screening strategies for detection of cardiovascular abnormalities in high school athletes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Price DE,
|
||
McWilliams A,
|
||
Asif IM,
|
||
Martin A,
|
||
Elliott SD,
|
||
Dulin M,
|
||
Drezner JA</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2014 Mar;11(3):442-9.
|
||
Epub 2013 Dec 4
|
||
doi: 10.1016/j.hrthm.2013.12.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24315964" target="_blank">24315964</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22505462">The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caldwell J,
|
||
Moreton N,
|
||
Khan N,
|
||
Kerzin-Storrar L,
|
||
Metcalfe K,
|
||
Newman W,
|
||
Garratt CJ</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2012 Apr;98(8):631-6.
|
||
doi: 10.1136/heartjnl-2011-300924.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22505462" target="_blank">22505462</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypertrophic%20cardiomyopathy%201%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 (2)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21267010">Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinto YM,
|
||
Wilde AA,
|
||
van Rijsingen IA,
|
||
Christiaans I,
|
||
Deprez RH,
|
||
Elliott PM</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2011 Aug;19(8)
|
||
Epub 2011 Jan 26
|
||
doi: 10.1038/ejhg.2010.243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21267010" target="_blank">21267010</a><a href="/pmc/articles/PMC3172916" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></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/35648762">The discrepancies between clinical and histopathological diagnoses of cardiomyopathies in patients with stage D heart failure undergoing heart transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lertsuttimetta T,
|
||
Tumkosit M,
|
||
Kaveevorayan P,
|
||
Chantranuwatana P,
|
||
Theerasuwipakorn N,
|
||
Chattranukulchai P,
|
||
Puwanant S</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(6):e0269019.
|
||
Epub 2022 Jun 1
|
||
doi: 10.1371/journal.pone.0269019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35648762" target="_blank">35648762</a><a href="/pmc/articles/PMC9159581" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32895535">Epidemiology of the inherited cardiomyopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McKenna WJ,
|
||
Judge DP</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cardiol</span>
|
||
2021 Jan;18(1):22-36.
|
||
Epub 2020 Sep 7
|
||
doi: 10.1038/s41569-020-0428-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32895535" target="_blank">32895535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30482630">Clinical profile and outcome of cardiac involvement in MELAS syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brambilla A,
|
||
Favilli S,
|
||
Olivotto I,
|
||
Calabri GB,
|
||
Porcedda G,
|
||
De Simone L,
|
||
Procopio E,
|
||
Pasquini E,
|
||
Donati MA</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2019 Feb 1;276:14-19.
|
||
Epub 2018 Oct 23
|
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doi: 10.1016/j.ijcard.2018.10.051.
|
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<span class="bold">PMID: </span><a href="/pubmed/30482630" target="_blank">30482630</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30348435">Usefulness of Focused Screening Echocardiography for Collegiate Athletes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Modaff DS,
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Hegde SM,
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Wyman RA,
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Rahko PS</span><br />
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2019 Jan 1;123(1):169-174.
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<span class="bold">PMID: </span><a href="/pubmed/30348435" target="_blank">30348435</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27496294">Electrocardiographic Screening in National Collegiate Athletic Association Athletes.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Drezner JA,
|
||
Owens DS,
|
||
Prutkin JM,
|
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Salerno JC,
|
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Harmon KG,
|
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Prosise S,
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Clark A,
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Asif IM</span><br />
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Epub 2016 Jun 14
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<span class="bold">PMID: </span><a href="/pubmed/27496294" target="_blank">27496294</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20cardiomyopathy%201%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 (16)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39321998">Prevalence and significance of pulmonary hypertension among hospitalized patients with left heart disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Farmakis IT,
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Hobohm L,
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Valerio L,
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Keller K,
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Schmidt KH,
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von Bardeleben RS,
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Lurz P,
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Rosenkranz S,
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Konstantinides SV,
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Giannakoulas G</span><br />
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<span class="medgenPMjournal">Respir Med</span>
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2024 Nov-Dec;234:107817.
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Epub 2024 Sep 23
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doi: 10.1016/j.rmed.2024.107817.
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<span class="bold">PMID: </span><a href="/pubmed/39321998" target="_blank">39321998</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35648762">The discrepancies between clinical and histopathological diagnoses of cardiomyopathies in patients with stage D heart failure undergoing heart transplantation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lertsuttimetta T,
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Tumkosit M,
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Kaveevorayan P,
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Chantranuwatana P,
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Theerasuwipakorn N,
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Chattranukulchai P,
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Puwanant S</span><br />
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2022;17(6):e0269019.
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Epub 2022 Jun 1
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<span class="bold">PMID: </span><a href="/pubmed/35648762" target="_blank">35648762</a><a href="/pmc/articles/PMC9159581" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32895535">Epidemiology of the inherited cardiomyopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">McKenna WJ,
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Judge DP</span><br />
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<span class="medgenPMjournal">Nat Rev Cardiol</span>
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2021 Jan;18(1):22-36.
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<span class="bold">PMID: </span><a href="/pubmed/32895535" target="_blank">32895535</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30482630">Clinical profile and outcome of cardiac involvement in MELAS syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Brambilla A,
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Favilli S,
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Olivotto I,
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Calabri GB,
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Porcedda G,
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De Simone L,
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Procopio E,
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Pasquini E,
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Donati MA</span><br />
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doi: 10.1016/j.ijcard.2018.10.051.
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<span class="bold">PMID: </span><a href="/pubmed/30482630" target="_blank">30482630</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/27496294">Electrocardiographic Screening in National Collegiate Athletic Association Athletes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drezner JA,
|
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Owens DS,
|
||
Prutkin JM,
|
||
Salerno JC,
|
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Harmon KG,
|
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Prosise S,
|
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Clark A,
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Asif IM</span><br />
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<span class="medgenPMjournal">Am J Cardiol</span>
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2016 Sep 1;118(5):754-9.
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Epub 2016 Jun 14
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doi: 10.1016/j.amjcard.2016.06.004.
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<span class="bold">PMID: </span><a href="/pubmed/27496294" target="_blank">27496294</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20cardiomyopathy%201%22%20AND%20Diagnosis%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 (18)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/35648762">The discrepancies between clinical and histopathological diagnoses of cardiomyopathies in patients with stage D heart failure undergoing heart transplantation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lertsuttimetta T,
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Tumkosit M,
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Kaveevorayan P,
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Chantranuwatana P,
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Theerasuwipakorn N,
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Chattranukulchai P,
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Puwanant S</span><br />
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<span class="medgenPMjournal">PLoS One</span>
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2022;17(6):e0269019.
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Epub 2022 Jun 1
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doi: 10.1371/journal.pone.0269019.
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<span class="bold">PMID: </span><a href="/pubmed/35648762" target="_blank">35648762</a><a href="/pmc/articles/PMC9159581" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/22505462">The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Caldwell J,
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Moreton N,
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<div class="nl"><a target="_blank" href="/pubmed/18312775">Sudden cardiac arrest in hypertrophic cardiomyopathy in the absence of conventional criteria for high risk status.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/2669647">The Pierce-Donachy ventricular assist device as a bridge to cardiac transplantation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gray LA Jr,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20cardiomyopathy%201%22%20AND%20Therapy%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/39321998">Prevalence and significance of pulmonary hypertension among hospitalized patients with left heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farmakis IT,
|
||
Hobohm L,
|
||
Valerio L,
|
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Keller K,
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Schmidt KH,
|
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von Bardeleben RS,
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Lurz P,
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Rosenkranz S,
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Konstantinides SV,
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Giannakoulas G</span><br />
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Epub 2024 Sep 23
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doi: 10.1016/j.rmed.2024.107817.
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<span class="bold">PMID: </span><a href="/pubmed/39321998" target="_blank">39321998</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35648762">The discrepancies between clinical and histopathological diagnoses of cardiomyopathies in patients with stage D heart failure undergoing heart transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lertsuttimetta T,
|
||
Tumkosit M,
|
||
Kaveevorayan P,
|
||
Chantranuwatana P,
|
||
Theerasuwipakorn N,
|
||
Chattranukulchai P,
|
||
Puwanant S</span><br />
|
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<span class="medgenPMjournal">PLoS One</span>
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2022;17(6):e0269019.
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Epub 2022 Jun 1
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doi: 10.1371/journal.pone.0269019.
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<span class="bold">PMID: </span><a href="/pubmed/35648762" target="_blank">35648762</a><a href="/pmc/articles/PMC9159581" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30482630">Clinical profile and outcome of cardiac involvement in MELAS syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brambilla A,
|
||
Favilli S,
|
||
Olivotto I,
|
||
Calabri GB,
|
||
Porcedda G,
|
||
De Simone L,
|
||
Procopio E,
|
||
Pasquini E,
|
||
Donati MA</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2019 Feb 1;276:14-19.
|
||
Epub 2018 Oct 23
|
||
doi: 10.1016/j.ijcard.2018.10.051.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30482630" target="_blank">30482630</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27496294">Electrocardiographic Screening in National Collegiate Athletic Association Athletes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drezner JA,
|
||
Owens DS,
|
||
Prutkin JM,
|
||
Salerno JC,
|
||
Harmon KG,
|
||
Prosise S,
|
||
Clark A,
|
||
Asif IM</span><br />
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<span class="medgenPMjournal">Am J Cardiol</span>
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||
2016 Sep 1;118(5):754-9.
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Epub 2016 Jun 14
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||
doi: 10.1016/j.amjcard.2016.06.004.
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||
<span class="bold">PMID: </span><a href="/pubmed/27496294" target="_blank">27496294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16996883">Prognostic significance of left atrial size in patients with hypertrophic cardiomyopathy (from the Italian Registry for Hypertrophic Cardiomyopathy).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nistri S,
|
||
Olivotto I,
|
||
Betocchi S,
|
||
Losi MA,
|
||
Valsecchi G,
|
||
Pinamonti B,
|
||
Conte MR,
|
||
Casazza F,
|
||
Galderisi M,
|
||
Maron BJ,
|
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Cecchi F</span><br />
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<span class="medgenPMjournal">Am J Cardiol</span>
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2006 Oct 1;98(7):960-5.
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Epub 2006 Aug 14
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doi: 10.1016/j.amjcard.2006.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16996883" target="_blank">16996883</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20cardiomyopathy%201%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 (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/27496294">Electrocardiographic Screening in National Collegiate Athletic Association Athletes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Drezner JA,
|
||
Owens DS,
|
||
Prutkin JM,
|
||
Salerno JC,
|
||
Harmon KG,
|
||
Prosise S,
|
||
Clark A,
|
||
Asif IM</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
2016 Sep 1;118(5):754-9.
|
||
Epub 2016 Jun 14
|
||
doi: 10.1016/j.amjcard.2016.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27496294" target="_blank">27496294</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22505462">The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Caldwell J,
|
||
Moreton N,
|
||
Khan N,
|
||
Kerzin-Storrar L,
|
||
Metcalfe K,
|
||
Newman W,
|
||
Garratt CJ</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2012 Apr;98(8):631-6.
|
||
doi: 10.1136/heartjnl-2011-300924.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22505462" target="_blank">22505462</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20970640">Survival after cardiac transplantation: influence of the previous cardiopathy in the recipient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Romero-Rodríguez N,
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Lage-Gallé E,
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Guisado-Rasco A,
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Nevado-Portero J,
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Rodríguez RS,
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Machuca MG,
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Marquez MS,
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Martínez-Martínez A</span><br />
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doi: 10.1016/j.transproceed.2010.06.009.
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<span class="bold">PMID: </span><a href="/pubmed/20970640" target="_blank">20970640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16996883">Prognostic significance of left atrial size in patients with hypertrophic cardiomyopathy (from the Italian Registry for Hypertrophic Cardiomyopathy).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nistri S,
|
||
Olivotto I,
|
||
Betocchi S,
|
||
Losi MA,
|
||
Valsecchi G,
|
||
Pinamonti B,
|
||
Conte MR,
|
||
Casazza F,
|
||
Galderisi M,
|
||
Maron BJ,
|
||
Cecchi F</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
2006 Oct 1;98(7):960-5.
|
||
Epub 2006 Aug 14
|
||
doi: 10.1016/j.amjcard.2006.05.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16996883" target="_blank">16996883</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2312980">Syncope in hypertrophic cardiomyopathy: multivariate analysis of prognostic determinants.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Nienaber CA,
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Hiller S,
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Spielmann RP,
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Geiger M,
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Kuck KH</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/2312980" target="_blank">2312980</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertrophic%20cardiomyopathy%201%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 (9)</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">
|
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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>
|
||
<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=C3495498%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (75)</a></li>
|
||
<li><a href="/gtr/tests?term=C3495498%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3495498%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3495498%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (111)</a></li>
|
||
<li><a href="/gtr/tests?term=C3495498%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (14)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3495498%5bDISCUI%5d" target="_blank">See all (125)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
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|
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<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=192600" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hypertrophic%20cardiomyopathy%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypertrophic%20cardiomyopathy%201%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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//21267010/">EuroGenetest, 2011</a><div>Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).</div></li></ul></div>
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<a href="/pubmed/20301725" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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