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<meta name="keywords" content="C3810138, arrhythmogenic right ventricular cardiomyopathy 13, arrhythmogenic right ventricular cardiomyopathy caused by mutation in ctnna3, arrhythmogenic right ventricular dysplasia 13, arrhythmogenic right ventricular dysplasia type 13, arrhythmogenic right ventricular dysplasia, familial, 13, arrhythmogenic right ventricular dysplasia, familial, type 13, arvc13, arvd13, ctnna3, ctnna3 arrhythmogenic right ventricular cardiomyopathy, disease or syndrome, familial arrhythmogenic right ventricular dysplasia 13, 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="Arrhythmogenic right ventricular cardiomyopathy/dysplasia-13 (ARVD13) is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=816468
|
||
ConceptID=C3810138
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Arrhythmogenic right ventricular dysplasia 13<span class="h1sub">(ARVC13; ARVD13)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816468</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:">C3810138</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>ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13; Arrhythmogenic right ventricular dysplasia, familial, 13</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="CTNNA3 - ID: 29119 - NCBI Gene" href="/gene/29119" class="medgenPMinfo">CTNNA3</a> (10q21.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000908" target="_blank">MONDO:0000908</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615616" target="_blank">615616</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">Arrhythmogenic right ventricular cardiomyopathy/dysplasia-13 (ARVD13) is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.<br /><br />ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure. <a target="_blank" href="https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy">https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_7286"><div><strong>Left bundle branch block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7286</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0023211</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7286">Feature record</a> | <a href="/medgen?term=%22Left%20bundle%20branch%20block%22%5BClinical%20Features%5D%20OR%207286%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_12068"><div><strong>Ventricular tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12068</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.">C0042514</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/12068">Feature record</a> | <a href="/medgen?term=%22Ventricular%20tachycardia%22%5BClinical%20Features%5D%20OR%2012068%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43215"><div><strong>First degree atrioventricular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43215</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.">C0085614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43215">Feature record</a> | <a href="/medgen?term=%22First%20degree%20atrioventricular%20block%22%5BClinical%20Features%5D%20OR%2043215%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138012"><div><strong>Right ventricular dilatation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138012</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.">C0344893</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138012">Feature record</a> | <a href="/medgen?term=%22Right%20ventricular%20dilatation%22%5BClinical%20Features%5D%20OR%20138012%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43215" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">First degree atrioventricular block</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7286" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left bundle branch block</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right ventricular dilatation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12068" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular tachycardia</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=C3810138[DISCUI]&test_type=Clinical" ref="ncbi_uid=816468">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816468" target="_blank" href="/omim/607667">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=816468" ref="ncbi_uid=816468">V</a></span></span><span class="TLline">Arrhythmogenic right ventricular dysplasia 13</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><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/87618" ref="tree=MeSH" title="MedGen record for Arrhythmogenic right ventricular cardiomyopathy">Arrhythmogenic right ventricular cardiomyopathy</a></span><ul><li><span class="matched_ds">Arrhythmogenic right ventricular dysplasia 13</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/35653365">Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stava TT,
|
||
Leren TP,
|
||
Bogsrud MP</span><br />
|
||
<span class="medgenPMjournal">Eur J Prev Cardiol</span>
|
||
2022 Oct 18;29(13):1789-1799.
|
||
doi: 10.1093/eurjpc/zwac102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35653365" target="_blank">35653365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34400560">Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christensen AH,
|
||
Platonov PG,
|
||
Jensen HK,
|
||
Chivulescu M,
|
||
Svensson A,
|
||
Dahlberg P,
|
||
Madsen T,
|
||
Frederiksen TC,
|
||
Heliö T,
|
||
Lie ØH,
|
||
Haugaa KH,
|
||
Hastrup Svendsen J,
|
||
Bundgaard H</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2022 Sep;59(9):858-864.
|
||
Epub 2021 Aug 16
|
||
doi: 10.1136/jmedgenet-2021-107911.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34400560" target="_blank">34400560</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31210398">Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elliott PM,
|
||
Anastasakis A,
|
||
Asimaki A,
|
||
Basso C,
|
||
Bauce B,
|
||
Brooke MA,
|
||
Calkins H,
|
||
Corrado D,
|
||
Duru F,
|
||
Green KJ,
|
||
Judge DP,
|
||
Kelsell D,
|
||
Lambiase PD,
|
||
McKenna WJ,
|
||
Pilichou K,
|
||
Protonotarios A,
|
||
Saffitz JE,
|
||
Syrris P,
|
||
Tandri H,
|
||
Te Riele A,
|
||
Thiene G,
|
||
Tsatsopoulou A,
|
||
van Tintelen JP</span><br />
|
||
<span class="medgenPMjournal">Eur J Heart Fail</span>
|
||
2019 Aug;21(8):955-964.
|
||
Epub 2019 Jun 18
|
||
doi: 10.1002/ejhf.1534.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31210398" target="_blank">31210398</a><a href="/pmc/articles/PMC6685753" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(arrhythmogenic%20right%20ventricular%20dysplasia%2013)%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 (21)</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/35653365">Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stava TT,
|
||
Leren TP,
|
||
Bogsrud MP</span><br />
|
||
<span class="medgenPMjournal">Eur J Prev Cardiol</span>
|
||
2022 Oct 18;29(13):1789-1799.
|
||
doi: 10.1093/eurjpc/zwac102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35653365" target="_blank">35653365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32300932">Arrhythmogenic Cardiomyopathy and Sports Activity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zorzi A,
|
||
Cipriani A,
|
||
Mattesi G,
|
||
Vio R,
|
||
Bettella N,
|
||
Corrado D</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Transl Res</span>
|
||
2020 Jun;13(3):274-283.
|
||
Epub 2020 Apr 16
|
||
doi: 10.1007/s12265-020-09995-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32300932" target="_blank">32300932</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31402444">Reevaluation of genetic variants previously associated with arrhythmogenic right ventricular cardiomyopathy integrating population-based cohorts and proteomics data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ye JZ,
|
||
Delmar M,
|
||
Lundby A,
|
||
Olesen MS</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2019 Dec;96(6):506-514.
|
||
Epub 2019 Aug 19
|
||
doi: 10.1111/cge.13621.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31402444" target="_blank">31402444</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28645928">Molecular mechanisms in cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dadson K,
|
||
Hauck L,
|
||
Billia F</span><br />
|
||
<span class="medgenPMjournal">Clin Sci (Lond)</span>
|
||
2017 Jul 1;131(13):1375-1392.
|
||
doi: 10.1042/CS20160170.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28645928" target="_blank">28645928</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21789574">Genetics of sudden cardiac death.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barsheshet A,
|
||
Brenyo A,
|
||
Moss AJ,
|
||
Goldenberg I</span><br />
|
||
<span class="medgenPMjournal">Curr Cardiol Rep</span>
|
||
2011 Oct;13(5):364-76.
|
||
doi: 10.1007/s11886-011-0209-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21789574" target="_blank">21789574</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arrhythmogenic%20right%20ventricular%20dysplasia%2013%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 (213)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35653365">Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stava TT,
|
||
Leren TP,
|
||
Bogsrud MP</span><br />
|
||
<span class="medgenPMjournal">Eur J Prev Cardiol</span>
|
||
2022 Oct 18;29(13):1789-1799.
|
||
doi: 10.1093/eurjpc/zwac102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35653365" target="_blank">35653365</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32436168">Cardiovascular Magnetic Resonance and Sport Cardiology: a Growing Role in Clinical Dilemmas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maestrini V,
|
||
Torlasco C,
|
||
Hughes R,
|
||
Moon JC</span><br />
|
||
<span class="medgenPMjournal">J Cardiovasc Transl Res</span>
|
||
2020 Jun;13(3):296-305.
|
||
Epub 2020 May 20
|
||
doi: 10.1007/s12265-020-10022-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32436168" target="_blank">32436168</a><a href="/pmc/articles/PMC7360536" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31402444">Reevaluation of genetic variants previously associated with arrhythmogenic right ventricular cardiomyopathy integrating population-based cohorts and proteomics data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ye JZ,
|
||
Delmar M,
|
||
Lundby A,
|
||
Olesen MS</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2019 Dec;96(6):506-514.
|
||
Epub 2019 Aug 19
|
||
doi: 10.1111/cge.13621.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31402444" target="_blank">31402444</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24460198">Remodeling of cell-cell junctions in arrhythmogenic cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Asimaki A,
|
||
Saffitz JE</span><br />
|
||
<span class="medgenPMjournal">Cell Commun Adhes</span>
|
||
2014 Feb;21(1):13-23.
|
||
doi: 10.3109/15419061.2013.876016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24460198" target="_blank">24460198</a><a href="/pmc/articles/PMC4466113" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20172911">Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marcus FI,
|
||
McKenna WJ,
|
||
Sherrill D,
|
||
Basso C,
|
||
Bauce B,
|
||
Bluemke DA,
|
||
Calkins H,
|
||
Corrado D,
|
||
Cox MG,
|
||
Daubert JP,
|
||
Fontaine G,
|
||
Gear K,
|
||
Hauer R,
|
||
Nava A,
|
||
Picard MH,
|
||
Protonotarios N,
|
||
Saffitz JE,
|
||
Sanborn DM,
|
||
Steinberg JS,
|
||
Tandri H,
|
||
Thiene G,
|
||
Towbin JA,
|
||
Tsatsopoulou A,
|
||
Wichter T,
|
||
Zareba W</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2010 Apr 6;121(13):1533-41.
|
||
Epub 2010 Feb 19
|
||
doi: 10.1161/CIRCULATIONAHA.108.840827.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20172911" target="_blank">20172911</a><a href="/pmc/articles/PMC2860804" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arrhythmogenic%20right%20ventricular%20dysplasia%2013%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 (231)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38195003">Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carrick RT,
|
||
De Marco C,
|
||
Gasperetti A,
|
||
Bosman LP,
|
||
Gourraud JB,
|
||
Trancuccio A,
|
||
Mazzanti A,
|
||
Murray B,
|
||
Pendleton C,
|
||
Tichnell C,
|
||
Tandri H,
|
||
Zeppenfeld K,
|
||
Wilde AAM,
|
||
Davies B,
|
||
Seifer C,
|
||
Roberts JD,
|
||
Healey JS,
|
||
MacIntyre C,
|
||
Alqarawi W,
|
||
Tadros R,
|
||
Cutler MJ,
|
||
Targetti M,
|
||
Calò L,
|
||
Vitali F,
|
||
Bertini M,
|
||
Compagnucci P,
|
||
Casella M,
|
||
Dello Russo A,
|
||
Cappelletto C,
|
||
De Luca A,
|
||
Stolfo D,
|
||
Duru F,
|
||
Jensen HK,
|
||
Svensson A,
|
||
Dahlberg P,
|
||
Hasselberg NE,
|
||
Di Marco A,
|
||
Jordà P,
|
||
Arbelo E,
|
||
Moreno Weidmann Z,
|
||
Borowiec K,
|
||
Delinière A,
|
||
Biernacka EK,
|
||
van Tintelen JP,
|
||
Platonov PG,
|
||
Olivotto I,
|
||
Saguner AM,
|
||
Haugaa KH,
|
||
Cox M,
|
||
Tondo C,
|
||
Merlo M,
|
||
Krahn AD,
|
||
Te Riele ASJM,
|
||
Wu KC,
|
||
Calkins H,
|
||
James CA,
|
||
Cadrin-Tourigny J</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2024 Feb 16;45(7):538-548.
|
||
doi: 10.1093/eurheartj/ehad799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38195003" target="_blank">38195003</a><a href="/pmc/articles/PMC11024811" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37775650">New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharma AK,
|
||
Singh S,
|
||
Bhat M,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arrhythmogenic%20right%20ventricular%20dysplasia%2013%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 (139)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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|
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<div class="portlet_content ln"><span class="medgenPMauthor">Xu Z,
|
||
Zhu W,
|
||
Wang C,
|
||
Huang L,
|
||
Zhou Q,
|
||
Hu J,
|
||
Cheng X,
|
||
Hong K</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2017 Jan 25;7:41387.
|
||
doi: 10.1038/srep41387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28120905" target="_blank">28120905</a><a href="/pmc/articles/PMC5264593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26385533">Implantable cardioverter-defibrillator harm in young patients with inherited arrhythmia syndromes: A systematic review and meta-analysis of inappropriate shocks and complications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Olde Nordkamp LR,
|
||
Postema PG,
|
||
Knops RE,
|
||
van Dijk N,
|
||
Limpens J,
|
||
Wilde AA,
|
||
de Groot JR</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2016 Feb;13(2):443-54.
|
||
Epub 2015 Sep 15
|
||
doi: 10.1016/j.hrthm.2015.09.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26385533" target="_blank">26385533</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arrhythmogenic%20right%20ventricular%20dysplasia%2013%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 (5)</a></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3810138%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
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<li><a href="/gtr/tests?term=C3810138%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
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<li><a href="/gtr/tests?term=C3810138%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
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