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<meta name="keywords" content="C4748014, alpk3, cardiomyopathy, familial hypertrophic 27, cardiomyopathy, familial hypertrophic, 27, cmh27, disease or syndrome, familial hypertrophic cardiomyopathy type 27, 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="CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1648325
|
||
ConceptID=C4748014
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cardiomyopathy, familial hypertrophic 27<span class="h1sub">(CMH27)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648325</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.">C4748014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27; CMH27</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="ALPK3 - ID: 57538 - NCBI Gene" href="/gene/57538" class="medgenPMinfo">ALPK3</a> (15q25.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0054838" target="_blank">MONDO:0054838</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/618052" target="_blank">618052</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">CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family. [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_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_4041"><div><strong>Endocardial fibroelastosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4041</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.">C0014117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4041">Feature record</a> | <a href="/medgen?term=%22Endocardial%20fibroelastosis%22%5BClinical%20Features%5D%20OR%204041%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5456"><div><strong>Cardiac arrest</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5456</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.">C0018790</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abrupt loss of heart function.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5456">Feature record</a> | <a href="/medgen?term=%22Cardiac%20arrest%22%5BClinical%20Features%5D%20OR%205456%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5459"><div><strong>Cardiomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5459</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.">C0018800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5459">Feature record</a> | <a href="/medgen?term=%22Cardiomegaly%22%5BClinical%20Features%5D%20OR%205459%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_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_11911"><div><strong>Tricuspid regurgitation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11911</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.">C0040961</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11911">Feature record</a> | <a href="/medgen?term=%22Tricuspid%20regurgitation%22%5BClinical%20Features%5D%20OR%2011911%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57494"><div><strong>Prolonged QT interval</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57494</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.">C0151878</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57494">Feature record</a> | <a href="/medgen?term=%22Prolonged%20QT%20interval%22%5BClinical%20Features%5D%20OR%2057494%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57981"><div><strong>Right ventricular hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57981</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.">C0162770</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57981">Feature record</a> | <a href="/medgen?term=%22Right%20ventricular%20hypertrophy%22%5BClinical%20Features%5D%20OR%2057981%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68651"><div><strong>Concentric hypertrophic cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68651</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0238044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68651">Feature record</a> | <a href="/medgen?term=%22Concentric%20hypertrophic%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%2068651%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138013"><div><strong>Ventricular septal hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138013</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.">C0344955</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138013">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20hypertrophy%22%5BClinical%20Features%5D%20OR%20138013%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_696562"><div><strong>Left ventricular diastolic dysfunction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>696562</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.">C1273070</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal function of the left ventricule during left ventricular relaxation and filling.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/696562">Feature record</a> | <a href="/medgen?term=%22Left%20ventricular%20diastolic%20dysfunction%22%5BClinical%20Features%5D%20OR%20696562%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870561"><div><strong>Impaired myocardial contractility</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870561</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.">C4025009</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870561">Feature record</a> | <a href="/medgen?term=%22Impaired%20myocardial%20contractility%22%5BClinical%20Features%5D%20OR%20870561%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480553"><div><strong>Ventriculomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480553</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.">C3278923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in size of the ventricular system of the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480553">Feature record</a> | <a href="/medgen?term=%22Ventriculomegaly%22%5BClinical%20Features%5D%20OR%20480553%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_46202"><div><strong>Pterygium</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>46202</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.">C0033999</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/46202">Feature record</a> | <a href="/medgen?term=%22Pterygium%22%5BClinical%20Features%5D%20OR%2046202%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105327"><div><strong>Non-immune hydrops fetalis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105327</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.">C0455988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105327">Feature record</a> | <a href="/medgen?term=%22Non-immune%20hydrops%20fetalis%22%5BClinical%20Features%5D%20OR%20105327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_909741"><div><strong>Cardiomyocyte hypertrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>909741</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.">C4227331</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/909741">Feature record</a> | <a href="/medgen?term=%22Cardiomyocyte%20hypertrophy%22%5BClinical%20Features%5D%20OR%20909741%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">Abnormal cellular phenotype</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_909741" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyocyte hypertrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-immune hydrops fetalis</a></span></li></ul></li><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_5456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac arrest</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5459" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomegaly</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68651" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Concentric hypertrophic cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_4041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Endocardial fibroelastosis</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_870561" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired myocardial contractility</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_696562" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left ventricular diastolic dysfunction</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_57494" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged QT interval</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57981" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right ventricular hypertrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11911" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tricuspid regurgitation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138013" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal hypertrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_46202" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pterygium</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480553" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventriculomegaly</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=C4748014[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648325">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648325" target="_blank" href="/omim/617608">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=1648325" ref="ncbi_uid=1648325">V</a></span></span><span class="TLline">Cardiomyopathy, familial hypertrophic 27</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">Cardiomyopathy, familial hypertrophic 27</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/39742874">Role of Genetic Testing in Diagnosis and Prognosis Prediction in Hypertrophic Cardiomyopathy in Korea.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gwak SY,
|
||
Seo J,
|
||
Seo GH,
|
||
Oh J,
|
||
Lee HJ,
|
||
Kim K,
|
||
Cho I,
|
||
Shim CY,
|
||
Ha JW,
|
||
Hong GR</span><br />
|
||
<span class="medgenPMjournal">J Korean Med Sci</span>
|
||
2024 Dec 30;39(50):e313.
|
||
doi: 10.3346/jkms.2024.39.e313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39742874" target="_blank">39742874</a><a href="/pmc/articles/PMC11685281" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23674365">A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lopes LR,
|
||
Rahman MS,
|
||
Elliott PM</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2013 Dec;99(24):1800-11.
|
||
Epub 2013 May 14
|
||
doi: 10.1136/heartjnl-2013-303939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23674365" target="_blank">23674365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21505608">The diagnosis and treatment of hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prinz C,
|
||
Farr M,
|
||
Hering D,
|
||
Horstkotte D,
|
||
Faber L</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2011 Apr;108(13):209-15.
|
||
Epub 2011 Apr 1
|
||
doi: 10.3238/arztebl.2011.0209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21505608" target="_blank">21505608</a><a href="/pmc/articles/PMC3078548" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cardiomyopathy%2C%20familial%20hypertrophic%2027)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (7)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37183561">Role of non-coding variants in cardiovascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heshmatzad K,
|
||
Naderi N,
|
||
Maleki M,
|
||
Abbasi S,
|
||
Ghasemi S,
|
||
Ashrafi N,
|
||
Fazelifar AF,
|
||
Mahdavi M,
|
||
Kalayinia S</span><br />
|
||
<span class="medgenPMjournal">J Cell Mol Med</span>
|
||
2023 Jun;27(12):1621-1636.
|
||
Epub 2023 May 15
|
||
doi: 10.1111/jcmm.17762.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37183561" target="_blank">37183561</a><a href="/pmc/articles/PMC10273088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34503678">Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Marvao A,
|
||
McGurk KA,
|
||
Zheng SL,
|
||
Thanaj M,
|
||
Bai W,
|
||
Duan J,
|
||
Biffi C,
|
||
Mazzarotto F,
|
||
Statton B,
|
||
Dawes TJW,
|
||
Savioli N,
|
||
Halliday BP,
|
||
Xu X,
|
||
Buchan RJ,
|
||
Baksi AJ,
|
||
Quinlan M,
|
||
Tokarczuk P,
|
||
Tayal U,
|
||
Francis C,
|
||
Whiffin N,
|
||
Theotokis PI,
|
||
Zhang X,
|
||
Jang M,
|
||
Berry A,
|
||
Pantazis A,
|
||
Barton PJR,
|
||
Rueckert D,
|
||
Prasad SK,
|
||
Walsh R,
|
||
Ho CY,
|
||
Cook SA,
|
||
Ware JS,
|
||
O'Regan DP</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2021 Sep 14;78(11):1097-1110.
|
||
doi: 10.1016/j.jacc.2021.07.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34503678" target="_blank">34503678</a><a href="/pmc/articles/PMC8434420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32682351">Clinical characteristics of hypertrophic cardiomyopathy in children: An 8-year single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tunca Sahin G,
|
||
Ozgur S,
|
||
Kafali HC,
|
||
Sevinc Sengul F,
|
||
Haydin S,
|
||
Guzeltas A,
|
||
Ergul Y</span><br />
|
||
<span class="medgenPMjournal">Pediatr Int</span>
|
||
2021 Jan;63(1):37-45.
|
||
Epub 2020 Dec 5
|
||
doi: 10.1111/ped.14393.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32682351" target="_blank">32682351</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31006259">Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Norrish G,
|
||
Jager J,
|
||
Field E,
|
||
Quinn E,
|
||
Fell H,
|
||
Lord E,
|
||
Cicerchia MN,
|
||
Ochoa JP,
|
||
Cervi E,
|
||
Elliott PM,
|
||
Kaski JP</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2019 Jul 16;140(3):184-192.
|
||
Epub 2019 Apr 22
|
||
doi: 10.1161/CIRCULATIONAHA.118.038846.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31006259" target="_blank">31006259</a><a href="/pmc/articles/PMC6636798" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21505608">The diagnosis and treatment of hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prinz C,
|
||
Farr M,
|
||
Hering D,
|
||
Horstkotte D,
|
||
Faber L</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2011 Apr;108(13):209-15.
|
||
Epub 2011 Apr 1
|
||
doi: 10.3238/arztebl.2011.0209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21505608" target="_blank">21505608</a><a href="/pmc/articles/PMC3078548" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%2C%20familial%20hypertrophic%2027%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 (33)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39210606">Prevalence and characteristics of transthyretin amyloid cardiomyopathy in hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Pavia P,
|
||
Damy T,
|
||
Piriou N,
|
||
Barriales-Villa R,
|
||
Cappelli F,
|
||
Bahus C,
|
||
Munteanu C,
|
||
Keohane D,
|
||
Mallaina P,
|
||
Elliott P;
|
||
TTRACK investigators</span><br />
|
||
<span class="medgenPMjournal">ESC Heart Fail</span>
|
||
2024 Dec;11(6):4314-4324.
|
||
Epub 2024 Aug 29
|
||
doi: 10.1002/ehf2.14971.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39210606" target="_blank">39210606</a><a href="/pmc/articles/PMC11631301" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34263907">Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lopes LR,
|
||
Garcia-Hernández S,
|
||
Lorenzini M,
|
||
Futema M,
|
||
Chumakova O,
|
||
Zateyshchikov D,
|
||
Isidoro-Garcia M,
|
||
Villacorta E,
|
||
Escobar-Lopez L,
|
||
Garcia-Pavia P,
|
||
Bilbao R,
|
||
Dobarro D,
|
||
Sandin-Fuentes M,
|
||
Catalli C,
|
||
Gener Querol B,
|
||
Mezcua A,
|
||
Garcia Pinilla J,
|
||
Bloch Rasmussen T,
|
||
Ferreira-Aguar A,
|
||
Revilla-Martí P,
|
||
Basurte Elorz MT,
|
||
Bautista Paves A,
|
||
Ramon Gimeno J,
|
||
Figueroa AV,
|
||
Franco-Gutierrez R,
|
||
Fuentes-Cañamero ME,
|
||
Martinez Moreno M,
|
||
Ortiz-Genga M,
|
||
Piqueras-Flores J,
|
||
Analia Ramos K,
|
||
Rudzitis A,
|
||
Ruiz-Guerrero L,
|
||
Stein R,
|
||
Triguero-Bocharán M,
|
||
de la Higuera L,
|
||
Ochoa JP,
|
||
Abu-Bonsrah D,
|
||
Kwok CYT,
|
||
Smith JB,
|
||
Porrello ER,
|
||
Akhtar MM,
|
||
Jager J,
|
||
Ashworth M,
|
||
Syrris P,
|
||
Elliott DA,
|
||
Monserrat L,
|
||
Elliott PM</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2021 Aug 21;42(32):3063-3073.
|
||
doi: 10.1093/eurheartj/ehab424.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34263907" target="_blank">34263907</a><a href="/pmc/articles/PMC8380059" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31006259">Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Norrish G,
|
||
Jager J,
|
||
Field E,
|
||
Quinn E,
|
||
Fell H,
|
||
Lord E,
|
||
Cicerchia MN,
|
||
Ochoa JP,
|
||
Cervi E,
|
||
Elliott PM,
|
||
Kaski JP</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2019 Jul 16;140(3):184-192.
|
||
Epub 2019 Apr 22
|
||
doi: 10.1161/CIRCULATIONAHA.118.038846.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31006259" target="_blank">31006259</a><a href="/pmc/articles/PMC6636798" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22335739">Truncations of titin causing dilated cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herman DS,
|
||
Lam L,
|
||
Taylor MR,
|
||
Wang L,
|
||
Teekakirikul P,
|
||
Christodoulou D,
|
||
Conner L,
|
||
DePalma SR,
|
||
McDonough B,
|
||
Sparks E,
|
||
Teodorescu DL,
|
||
Cirino AL,
|
||
Banner NR,
|
||
Pennell DJ,
|
||
Graw S,
|
||
Merlo M,
|
||
Di Lenarda A,
|
||
Sinagra G,
|
||
Bos JM,
|
||
Ackerman MJ,
|
||
Mitchell RN,
|
||
Murry CE,
|
||
Lakdawala NK,
|
||
Ho CY,
|
||
Barton PJ,
|
||
Cook SA,
|
||
Mestroni L,
|
||
Seidman JG,
|
||
Seidman CE</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2012 Feb 16;366(7):619-28.
|
||
doi: 10.1056/NEJMoa1110186.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22335739" target="_blank">22335739</a><a href="/pmc/articles/PMC3660031" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/779595">Mitral valve prolapse.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wigle ED,
|
||
Rakowski H,
|
||
Ranganathan N,
|
||
Silver MC</span><br />
|
||
<span class="medgenPMjournal">Annu Rev Med</span>
|
||
1976;27:165-80.
|
||
doi: 10.1146/annurev.me.27.020176.001121.
|
||
<span class="bold">PMID: </span><a href="/pubmed/779595" target="_blank">779595</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%2C%20familial%20hypertrophic%2027%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 (47)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39127261">Role of endogenous T1ρ and its dispersion imaging in differential diagnosis of cardiac amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang K,
|
||
Zhang Y,
|
||
Zhang W,
|
||
Jin H,
|
||
An J,
|
||
Cheng J,
|
||
Zheng J</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Magn Reson</span>
|
||
2024 Winter;26(2):101080.
|
||
Epub 2024 Aug 8
|
||
doi: 10.1016/j.jocmr.2024.101080.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39127261" target="_blank">39127261</a><a href="/pmc/articles/PMC11422604" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23674365">A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lopes LR,
|
||
Rahman MS,
|
||
Elliott PM</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2013 Dec;99(24):1800-11.
|
||
Epub 2013 May 14
|
||
doi: 10.1136/heartjnl-2013-303939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23674365" target="_blank">23674365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21641171">Mammary to innominate arteriovenous fistula: endovascular management of an anecdotal complication.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacques F,
|
||
Dubuc M,
|
||
Ibrahim R,
|
||
Joyal M,
|
||
Bouchard L,
|
||
Cartier R</span><br />
|
||
<span class="medgenPMjournal">Can J Cardiol</span>
|
||
2011 Jul-Aug;27(4):524.e1-3.
|
||
doi: 10.1016/j.cjca.2010.12.049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21641171" target="_blank">21641171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21505608">The diagnosis and treatment of hypertrophic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prinz C,
|
||
Farr M,
|
||
Hering D,
|
||
Horstkotte D,
|
||
Faber L</span><br />
|
||
<span class="medgenPMjournal">Dtsch Arztebl Int</span>
|
||
2011 Apr;108(13):209-15.
|
||
Epub 2011 Apr 1
|
||
doi: 10.3238/arztebl.2011.0209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21505608" target="_blank">21505608</a><a href="/pmc/articles/PMC3078548" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9093039">A regional study of presentation and outcome of hypertrophic cardiomyopathy in infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skinner JR,
|
||
Manzoor A,
|
||
Hayes AM,
|
||
Joffe HS,
|
||
Martin RP</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
1997 Mar;77(3):229-33.
|
||
doi: 10.1136/hrt.77.3.229.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9093039" target="_blank">9093039</a><a href="/pmc/articles/PMC484687" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%2C%20familial%20hypertrophic%2027%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37183561">Role of non-coding variants in cardiovascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heshmatzad K,
|
||
Naderi N,
|
||
Maleki M,
|
||
Abbasi S,
|
||
Ghasemi S,
|
||
Ashrafi N,
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2023 Jun;27(12):1621-1636.
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Epub 2023 May 15
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<span class="bold">PMID: </span><a href="/pubmed/37183561" target="_blank">37183561</a><a href="/pmc/articles/PMC10273088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31074094">Phenotypic spectrum of ALPK3-related cardiomyopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Al Senaidi K,
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Joshi N,
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<div class="nl"><a target="_blank" href="/pubmed/31006259">Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23674365">A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lopes LR,
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Elliott PM</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/23674365" target="_blank">23674365</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/21505608">The diagnosis and treatment of hypertrophic cardiomyopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Prinz C,
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Farr M,
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Hering D,
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<span class="bold">PMID: </span><a href="/pubmed/21505608" target="_blank">21505608</a><a href="/pmc/articles/PMC3078548" 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=%22Cardiomyopathy%2C%20familial%20hypertrophic%2027%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 (31)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/39742874">Role of Genetic Testing in Diagnosis and Prognosis Prediction in Hypertrophic Cardiomyopathy in Korea.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gwak SY,
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Seo J,
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Seo GH,
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Oh J,
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Lee HJ,
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Kim K,
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Cho I,
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Shim CY,
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Ha JW,
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Hong GR</span><br />
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<div class="nl"><a target="_blank" href="/pubmed/39210606">Prevalence and characteristics of transthyretin amyloid cardiomyopathy in hypertrophic cardiomyopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Garcia-Pavia P,
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Damy T,
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Piriou N,
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Cappelli F,
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Bahus C,
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Munteanu C,
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Keohane D,
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Mallaina P,
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Elliott P;
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2024 Dec;11(6):4314-4324.
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<span class="bold">PMID: </span><a href="/pubmed/39210606" target="_blank">39210606</a><a href="/pmc/articles/PMC11631301" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34263907">Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lopes LR,
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Garcia-Hernández S,
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Lorenzini M,
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Futema M,
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Martinez Moreno M,
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Ortiz-Genga M,
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Rudzitis A,
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Stein R,
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de la Higuera L,
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Ochoa JP,
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Abu-Bonsrah D,
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Kwok CYT,
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Smith JB,
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Jager J,
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Ashworth M,
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Syrris P,
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Elliott DA,
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|
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<div class="nl"><a target="_blank" href="/pubmed/23674365">A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lopes LR,
|
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Rahman MS,
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Elliott PM</span><br />
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<span class="medgenPMjournal">Heart</span>
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||
2013 Dec;99(24):1800-11.
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||
Epub 2013 May 14
|
||
doi: 10.1136/heartjnl-2013-303939.
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||
<span class="bold">PMID: </span><a href="/pubmed/23674365" target="_blank">23674365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22335739">Truncations of titin causing dilated cardiomyopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Herman DS,
|
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Lam L,
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Taylor MR,
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Wang L,
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Teekakirikul P,
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Christodoulou D,
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Conner L,
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DePalma SR,
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McDonough B,
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Sparks E,
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Teodorescu DL,
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Cirino AL,
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Banner NR,
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Pennell DJ,
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Graw S,
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Merlo M,
|
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Di Lenarda A,
|
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Sinagra G,
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Bos JM,
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Ackerman MJ,
|
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Mitchell RN,
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Murry CE,
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Lakdawala NK,
|
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Ho CY,
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Barton PJ,
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Cook SA,
|
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Mestroni L,
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Seidman JG,
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<span class="medgenPMjournal">N Engl J Med</span>
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2012 Feb 16;366(7):619-28.
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<span class="bold">PMID: </span><a href="/pubmed/22335739" target="_blank">22335739</a><a href="/pmc/articles/PMC3660031" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%2C%20familial%20hypertrophic%2027%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (26)</a></div></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/23674365">A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lopes LR,
|
||
Rahman MS,
|
||
Elliott PM</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2013 Dec;99(24):1800-11.
|
||
Epub 2013 May 14
|
||
doi: 10.1136/heartjnl-2013-303939.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23674365" target="_blank">23674365</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cardiomyopathy%2C%20familial%20hypertrophic%2027%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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<li><a href="/gtr/tests?term=C4748014%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
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<li><a href="/gtr/tests?term=C4748014%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<div class="ralinkpop offscreen_noflow">MYBPC3 myosin binding protein C3 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:4607</div></div>
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<div class="ralinkpop offscreen_noflow">TNNI3 troponin I3, cardiac type [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:7137</div></div>
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