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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK1131_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK1131_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/aadc-def/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/arterial-t/" title="Next page in this title">Next ></a></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK1131_"><span class="title" itemprop="name">Arrhythmogenic Right Ventricular Cardiomyopathy Overview</span></h1><p class="contrib-group"><span itemprop="author">Elizabeth McNally</span>, MD, PhD, <span itemprop="author">Heather MacLeod</span>, MS, and <span itemprop="author">Lisa Dellefave-Castillo</span>, MS, CGC.</p><a data-jig="ncbitoggler" href="#__NBK1131_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK1131_ai__"><div class="contrib half_rhythm"><span itemprop="author">Elizabeth McNally</span>, MD, PhD<div class="affiliation small">Center for Genetic Medicine<br />Northwestern Feinberg School of Medicine<br />Chicago, Illinois<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.nretsewhtron@yllancm.htebazile" class="oemail">ude.nretsewhtron@yllancm.htebazile</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Heather MacLeod</span>, MS<div class="affiliation small">Cardiovascular Genetics Consultant<br />Elmhurst, Illinois<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="moc.liamg@cgdoelcamh" class="oemail">moc.liamg@cgdoelcamh</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Lisa Dellefave-Castillo</span>, MS, CGC<div class="affiliation small">Center for Genetic Medicine<br />Northwestern Feinberg School of Medicine<br />Chicago, Illinois<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="ude.nretsewhtron@ollitsac.m.asil" class="oemail">ude.nretsewhtron@ollitsac.m.asil</a></div></div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">April 18, 2005</span>; Last Update: <span itemprop="dateModified">May 11, 2023</span>.</p><p><em>Estimated reading time: 36 minutes</em></p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="arvd.Summary" itemprop="description"><h2 id="_arvd_Summary_">Summary</h2><p>The purpose of this overview is to:</p><dl class="temp-labeled-list"><dt>1.</dt><dd><p class="no_top_margin">Describe the <a href="#arvd.Clinical_Characteristics_of_Arrhyth">clinical characteristics</a> of arrhythmogenic right ventricular cardiomyopathy (ARVC);</p></dd><dt>2.</dt><dd><p class="no_top_margin">Review the <a href="#arvd.Genetic_Causes_of_Arrhythmogenic_Ri">genetic causes</a> of ARVC;</p></dd><dt>3.</dt><dd><p class="no_top_margin">Provide an <a href="#arvd.Evaluation_Strategy_to_Identify_the">evaluation strategy</a> to identify the genetic cause of ARVC in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>;</p></dd><dt>4.</dt><dd><p class="no_top_margin">Review <a href="#arvd.Management_of_Arrhythmogenic_Right">management</a> of ARVC;</p></dd><dt>5.</dt><dd><p class="no_top_margin">Inform <a href="#arvd.Genetic_Risk_Assessment_and_Evaluat">genetic risk assessment</a> in family members of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</p></dd></dl>
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</div><div id="arvd.Clinical_Characteristics_of_Arrhyth"><h2 id="_arvd_Clinical_Characteristics_of_Arrhyth_">1. Clinical Characteristics of Arrhythmogenic Right Ventricular Cardiomyopathy</h2><div id="arvd.Clinical_Description"><h3>Clinical Description</h3><p>Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary cardiomyopathy that is often diagnosed after an individual presents with arrhythmia findings. Presenting manifestations include heart palpitations, syncope, or even sudden death. ARVC typically presents in adults (mean age of first presentation in one large cohort study was 36 ± 14 years [<a class="bk_pop" href="#arvd.REF.groeneweg.2015.437">Groeneweg et al 2015</a>]), although it may less commonly be seen in children, most often during the late second decade.</p><p>ARVC typically affects the right ventricular apex, the base of the right ventricle, and the right ventricle outflow tract. The arrhythmias in ARVC most frequently arise from the right ventricle and have left bundle branch block morphology. The disease is progressive and is characterized by fibrofatty replacement of the myocardium. Pathology in ARVC may also extend to involve the left ventricle, resulting in regional left ventricular dysfunction.</p><p>Note: There is a movement within clinical cardiology to merge ARVC with other arrhythmogenic cardiomyopathies because the left ventricle can become involved, or even become predominantly involved, especially in individuals with <i>DSP</i> pathogenic variants; left ventricular involvement has also been reported in individuals with variants in genes encoding other desmosomal proteins (e.g., <i>DSC2</i>) that were previously associated with ARVC. The 2010 Task Force Criteria (see <a href="#arvd.Diagnosis">Diagnosis</a>) are still used to establish a clinical diagnosis of ARVC [<a class="bk_pop" href="#arvd.REF.marcus.2010.806">Marcus et al 2010</a>], and these criteria do not incorporate other arrhythmogenic cardiomyopathies, leading to potential underdiagnosis. An international expert panel convened to reevaluate the diagnostic approach to arrhythmogenic cardiomyopathies and developed new criteria, the Padua Criteria [<a class="bk_pop" href="#arvd.REF.corrado.2020.106">Corrado et al 2020</a>]. There are ongoing studies to evaluate the proposed Padua Criteria in larger cohorts. Readers should be aware of the potential overlap/differentiation between ARVC and other arrhythmogenic cardiomyopathies.</p><p><b>Progression.</b> The four described stages of ARVC are the following [<a class="bk_pop" href="#arvd.REF.te_riele.2021.750916">Te Riele et al 2021</a>, <a class="bk_pop" href="#arvd.REF.wallace.2021.26">Wallace & Calkins 2021</a>]:</p><dl class="temp-labeled-list"><dt>1.</dt><dd><p class="no_top_margin">The concealed phase is the earliest phase and is without electrical, structural, or histologic changes as typically seen in ARVC. If scar formation is present, it can be so minimal that it goes undetected by cardiac MRI. However, affected individuals might experience sustained ventricular arrhythmias, and there is a potential risk of sudden cardiac death.</p></dd><dt>2.</dt><dd><p class="no_top_margin">An overt electrical disorder characterized by symptomatic arrhythmias including palpitations, syncope, and presyncope attributable to ventricular ectopy or sustained or nonsustained ventricular tachycardia</p></dd><dt>3.</dt><dd><p class="no_top_margin">Right ventricular failure</p></dd><dt>4.</dt><dd><p class="no_top_margin">A biventricular pump failure (resembling dilated cardiomyopathy) [<a class="bk_pop" href="#arvd.REF.dalal.2006.1416">Dalal et al 2006</a>]</p></dd></dl><p><b>Cardiomyopathy</b> in ARVC is not always isolatedto right ventricular involvement. There is evidence that the left ventricle can often become involved as well. The cohort of individuals with ARVC followed by <a class="bk_pop" href="#arvd.REF.bhonsale.2015.847">Bhonsale et al [2015]</a> had an overall incidence of left ventricular dysfunction of 14% over the follow-up interval, with 5% experiencing heart failure. In a separate cohort, 55% of individuals with <i>DSP</i> pathogenic variants experienced left ventricular predominant cardiomyopathy [<a class="bk_pop" href="#arvd.REF.smith.2020.1872">Smith et al 2020</a>].</p><p><b>Arrhythmia.</b> The principal characteristic of arrhythmogenic cardiomyopathies is the tendency for ventricular arrhythmia in the absence of overt ventricular dysfunction. Arrhythmias in ARVC include ventricular tachycardia and ventricular fibrillation. Atrial fibrillation has also been described in ARVC. One recent study identified atrial fibrillation occurring in one in seven individuals with a diagnosis of definite ARVC (by 2010 Task Force Criteria), with atrial fibrillation onset at a median age of 51 years [<a class="bk_pop" href="#arvd.REF.baturova.2020.39">Baturova et al 2020</a>]. The risk of atrial fibrillation increases with severity of the ARVC <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> compared to individuals who have an ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> but do not have clinical manifestations of ARVC (and thus do not meet 2010 Task Force Criteria).</p><p><b>Prognosis.</b> Two long-term studies of individuals with ARVC suggested that survival was greater than 72% at six years following diagnosis. In individuals with ARVC, cardiac mortality and need for transplant are less than 5% [<a class="bk_pop" href="#arvd.REF.bhonsale.2015.847">Bhonsale et al 2015</a>, <a class="bk_pop" href="#arvd.REF.groeneweg.2015.437">Groeneweg et al 2015</a>]. An individual with a prior history of sustained ventricular tachycardia or fibrillation is at increased risk for subsequent ventricular arrhythmias and sudden cardiac death. Prognosis is worse for individuals with more than one ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, with an increased propensity to arrhythmias and progression to cardiomyopathy [<a class="bk_pop" href="#arvd.REF.bao.2013.552">Bao et al 2013</a>, <a class="bk_pop" href="#arvd.REF.rigato.2013.533">Rigato et al 2013</a>, <a class="bk_pop" href="#arvd.REF.bhonsale.2015.847">Bhonsale et al 2015</a>, <a class="bk_pop" href="#arvd.REF.groeneweg.2015.437">Groeneweg et al 2015</a>].</p><p><b>Prevalence.</b> The prevalence of clinical ARVC is estimated at 1:1,000-1,250 in the general population, although most of this data derives from cohorts of European ancestry [<a class="bk_pop" href="#arvd.REF.wallace.2021.26">Wallace & Calkins 2021</a>]. The prevalence of ARVC is greater in certain regions; in Italy and Greece (island of Naxos), it can be as high as 0.4%-0.8% [<a class="bk_pop" href="#arvd.REF.thiene.2001.109">Thiene & Basso 2001</a>].</p></div><div id="arvd.Diagnosis"><h3>Diagnosis</h3><p>Diagnostic criteria for ARVC, initially proposed by an international task force [<a class="bk_pop" href="#arvd.REF.mckenna.1994.215">McKenna et al 1994</a>], were revised by <a class="bk_pop" href="#arvd.REF.marcus.2010.806">Marcus et al [2010]</a> (<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860804/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">full text</a>) to incorporate new knowledge and technology to improve diagnostic <a class="def" href="/books/n/gene/glossary/def-item/sensitivity/">sensitivity</a> while maintaining diagnostic specificity. Diagnostic criteria rely on a combination of EKG and signal averaged EKGs, imaging studies that include 2D echocardiography, cardiac MRI or right ventricular (RV) angiography, presence of arrhythmia documented by telemetric monitoring, genetic testing, and family history. Individuals are classified as having a definite, borderline, or possible diagnosis of ARVC based on the number of major and/or minor diagnostic criteria present.</p><p>A definite diagnosis of ARVC is <b>established</b> in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with the following findings from different categories:</p><ul><li class="half_rhythm"><div>Two major criteria; OR</div></li><li class="half_rhythm"><div>One major AND two minor criteria; OR</div></li><li class="half_rhythm"><div>Four minor criteria</div></li></ul><p>A borderline diagnosis of ARVC is considered in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with:</p><ul><li class="half_rhythm"><div>One major AND one minor criterion; OR</div></li><li class="half_rhythm"><div>Three minor criteria from different categories</div></li></ul><p>A possible diagnosis of ARVC is considered in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with:</p><ul><li class="half_rhythm"><div>One major criterion; OR</div></li><li class="half_rhythm"><div>Two minor criteria from different categories</div></li></ul><div id="arvd.Imaging_Findings_Global_andor_Regio"><h4>Imaging Findings: Global and/or Regional Cardiac Dysfunction and Structural Alterations</h4><p>
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<b>Major</b>
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</p><ul><li class="half_rhythm"><div>By 2D echo</div><ul><li class="half_rhythm"><div>Regional RV akinesia, dyskinesia, or aneurysm; AND</div></li><li class="half_rhythm"><div>ONE of the following (end-diastole):</div><ul><li class="half_rhythm"><div>Parasternal long axis (PLAX) RV outflow tract (RVOT) ≥32 mm; corrected for body surface area (BSA) ≥19 mm/m<sup>2</sup></div></li><li class="half_rhythm"><div>Parasternal short axis (PSAX) RVOT ≥36 mm; corrected for BSA ≥21 mm/m<sup>2</sup></div></li><li class="half_rhythm"><div>Fractional area change ≤33%</div></li></ul></li></ul></li><li class="half_rhythm"><div>By MRI</div><ul><li class="half_rhythm"><div>Regional RV akinesia or dyskinesia or dyssynchronous RV contraction; AND</div></li><li class="half_rhythm"><div>ONE of the following:</div><ul><li class="half_rhythm"><div>Ratio of RV end-diastolic volume to BSA ≥110 mL/m<sup>2</sup> (male) or ≥100 mL/m<sup>2</sup> (female)</div></li><li class="half_rhythm"><div>RV ejection fraction ≤40%</div></li></ul></li></ul></li><li class="half_rhythm"><div>By RV angiography. Regional RV akinesia, dyskinesia, or aneurysm</div></li></ul><p>
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<b>Minor</b>
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</p><ul><li class="half_rhythm"><div>By 2D echo</div><ul><li class="half_rhythm"><div>Regional RV akinesia or dyskinesia; AND</div></li><li class="half_rhythm"><div>ONE of the following (end-diastole):</div><ul><li class="half_rhythm"><div>PLAX RVOT ≥29 mm to <32 mm; corrected for BSA ≥16 to <19 mm/m<sup>2</sup></div></li><li class="half_rhythm"><div>PSAX RVOT ≥32 mm to <36 mm; corrected for BSA ≥18 to <21 mm/m<sup>2</sup></div></li><li class="half_rhythm"><div>Fractional area change >33% to ≤40%</div></li></ul></li></ul></li><li class="half_rhythm"><div>By MRI</div><ul><li class="half_rhythm"><div>Regional RV akinesia or dyskinesia or dyssynchronous RV contraction; AND</div></li><li class="half_rhythm"><div>ONE of the following:</div><ul><li class="half_rhythm"><div>Ratio of RV end-diastolic volume to BSA ≥100 mL/m<sup>2</sup> to <110 mL/m<sup>2</sup> (male) or ≥90 mL/m<sup>2</sup> to <100 mL/m<sup>2</sup> (female)</div></li><li class="half_rhythm"><div>RV ejection fraction >40% to ≤45%</div></li></ul></li></ul></li></ul></div><div id="arvd.Endomyocardial_Biopsy_or_Autopsy_Fi"><h4>Endomyocardial Biopsy or Autopsy Findings</h4><p><b>Major.</b> Residual myocytes <60% by morphometric analysis (or <50% if estimated), with fibrous replacement of the RV free wall myocardium in at least one sample, with or without fatty replacement of tissue</p><p><b>Minor.</b> Residual myocytes 60%-75% by morphometric analysis (or 50%-65% if estimated), with fibrous replacement of the RV free wall myocardium in at least one sample, with or without fatty replacement of tissue</p></div><div id="arvd.EKG_Findings"><h4>EKG Findings</h4><p>
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<b>Repolarization abnormalities</b>
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</p><ul><li class="half_rhythm"><div><b>Major.</b> Inverted T waves in right precordial leads (V1, V2, and V3) or beyond in individuals age >14 years (in the absence of complete right bundle branch block QRS ≥120 ms)</div></li><li class="half_rhythm"><div>
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<b>Minor</b>
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</div><ul><li class="half_rhythm"><div>Inverted T waves in leads V1 and V2 in individuals age >14 years (in absence of complete right bundle branch block) or in V4, V5, or V6</div></li><li class="half_rhythm"><div>Inverted T waves in leads V1, V2, V3, and V4 in individuals age >14 years in the presence of complete right bundle branch block</div></li></ul></li></ul><p>
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<b>Depolarization/conduction abnormalities</b>
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</p><ul><li class="half_rhythm"><div><b>Major.</b> Epsilon waves (reproducible low-amplitude signals between end of QRS complex to onset of the T wave) in the right precordial leads (V1 to V3)</div></li><li class="half_rhythm"><div>
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<b>Minor</b>
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</div><ul><li class="half_rhythm"><div>Late potential by signal-averaged EKG in at least one of three parameters in the absence of a QRS duration of ≥110 ms on standard EKG</div></li><li class="half_rhythm"><div>Filtered QRS duration (fQRS) ≥114 ms</div></li><li class="half_rhythm"><div>Duration of terminal QRS <40 uV (low-amplitude signal duration) ≥38 ms</div></li><li class="half_rhythm"><div>Root-mean-square voltage of terminal 40 ms ≤20 uV</div></li><li class="half_rhythm"><div>Terminal activation duration of QRS >55 ms measured from the nadir of the S wave to the end of the QRS, including R', in V1, V2, or V3 in the absence of complete right bundle branch block</div></li></ul></li></ul><p>
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<b>Arrhythmias</b>
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</p><ul><li class="half_rhythm"><div><b>Major.</b> Nonsustained or sustained ventricular tachycardia of left bundle branch morphology with superior axis (negative or indeterminate QRS in leads II, III, and aVF and positive in lead aVL)</div></li><li class="half_rhythm"><div>
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<b>Minor</b>
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</div><ul><li class="half_rhythm"><div>Nonsustained or sustained ventricular tachycardia of RV outflow configuration, left bundle branch block morphology with inferior axis (positive QRS in leads II, III, and aVF and negative in lead aVL) or of unknown axis</div></li><li class="half_rhythm"><div>>500 ventricular extrasystoles per 24 hours (Holter)</div></li></ul></li></ul></div><div id="arvd.Family_History_and_Molecular_Geneti"><h4>Family History and Molecular Genetic Testing</h4><p>
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<b>Major</b>
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</p><ul><li class="half_rhythm"><div>ARVC confirmed in a <a class="def" href="/books/n/gene/glossary/def-item/first-degree-relative/">first-degree relative</a> who meets 2010 Task Force Criteria [<a class="bk_pop" href="#arvd.REF.marcus.2010.806">Marcus et al 2010</a>]</div></li><li class="half_rhythm"><div>ARVC confirmed pathologically at autopsy or surgery in a <a class="def" href="/books/n/gene/glossary/def-item/first-degree-relative/">first-degree relative</a></div></li><li class="half_rhythm"><div>Identification of a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> categorized as associated or probably associated with ARVC in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></div></li></ul><p>
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<b>Minor</b>
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</p><ul><li class="half_rhythm"><div>History of ARVC in a <a class="def" href="/books/n/gene/glossary/def-item/first-degree-relative/">first-degree relative</a> in whom it is not possible or practical to determine whether the family member meets 2010 Task Force Criteria [<a class="bk_pop" href="#arvd.REF.marcus.2010.806">Marcus et al 2010</a>]</div></li><li class="half_rhythm"><div>Premature sudden death (age <35 years) due to suspected ARVC in a <a class="def" href="/books/n/gene/glossary/def-item/first-degree-relative/">first-degree relative</a></div></li><li class="half_rhythm"><div>ARVC confirmed pathologically or by 2010 Task Force Criteria in <a class="def" href="/books/n/gene/glossary/def-item/second-degree-relative/">second-degree relative</a></div></li></ul></div></div></div><div id="arvd.Genetic_Causes_of_Arrhythmogenic_Ri"><h2 id="_arvd_Genetic_Causes_of_Arrhythmogenic_Ri_">2. Genetic Causes of Arrhythmogenic Right Ventricular Cardiomyopathy</h2><p>A <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in one of the genes associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) is identified in up to 66% of probands with a clinical diagnosis of ARVC (see <a href="/books/NBK1131/table/arvd.T.genes_associated_with_arrhythmoge/?report=objectonly" target="object" rid-ob="figobarvdTgenesassociatedwitharrhythmoge">Table 1</a>) [<a class="bk_pop" href="#arvd.REF.wallace.2021.26">Wallace & Calkins 2021</a>]. Approximately 2%-4% of individuals with ARVC have more than one pathogenic variant identified (e.g., <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> variants in one ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>, <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> variants in more than one ARVC-related gene) [<a class="bk_pop" href="#arvd.REF.groeneweg.2015.437">Groeneweg et al 2015</a>, <a class="bk_pop" href="#arvd.REF.murray.2020">Murray et al 2020</a>]. The genes listed in <a href="/books/NBK1131/table/arvd.T.genes_associated_with_arrhythmoge/?report=objectonly" target="object" rid-ob="figobarvdTgenesassociatedwitharrhythmoge">Table 1</a> are associated with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> ARVC, with the exception of <i>DSC2</i> and <i>DSG2</i>, which are associated with both autosomal dominant and <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> ARVC [<a class="bk_pop" href="#arvd.REF.wong.2014.e001407">Wong et al 2014</a>, <a class="bk_pop" href="#arvd.REF.qadri.2017.86">Qadri et al 2017</a>, <a class="bk_pop" href="#arvd.REF.chen.2019.263">Chen et al 2019</a>].</p><div id="arvd.T.genes_associated_with_arrhythmoge" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Genes Associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ClinGen Gene Validity Classifications: Definitive and Moderate)</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1131/table/arvd.T.genes_associated_with_arrhythmoge/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__arvd.T.genes_associated_with_arrhythmoge_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">% of ARVC Caused by Pathogenic Variants in Gene <sup>2</sup></th><th id="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<p>
|
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<a href="https://search.clinicalgenome.org/kb/conditions/MONDO:0016587" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">
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<b>ClinGen Gene Validity Classification</b>
|
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</a>
|
||
</p>
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</th><th id="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_4" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Comment</th><th id="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_5" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Selected Allelic Disorders</th><th id="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_6" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM Gene Entry</th></tr></thead><tbody><tr><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<i>PKP2</i>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">34%-74%</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Definitive</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">May be more likely to cause VT [<a class="bk_pop" href="#arvd.REF.bao.2013.552">Bao et al 2013</a>]</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/brugada/">Brugada syndrome</a>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/602861" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">602861</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DSG2</i>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">5%-26%</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Definitive</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Founder variant in population from East Asia <sup>3</sup></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/dcm-ov/">DCM</a>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/125671" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">125671</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DSP</i>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">2%-39%</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Definitive <sup>4</sup></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>LV>RV involvement compared to <i>PKP2</i> [<a class="bk_pop" href="#arvd.REF.smith.2020.1872">Smith et al 2020</a>]</div></li><li class="half_rhythm"><div>Can present as myocarditis or sarcoidosis-like <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> <sup>5</sup></div></li></ul>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/dcm-ov/">DCM</a>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/125647" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">125647</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DSC2</i>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">1%-2%</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Definitive <sup>6</sup></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>ARVC can be nonsyndromic or assoc w/mild palmoplantar keratoderma & woolly hair.</div></li><li class="half_rhythm"><div>Founder variant in Hutterite population <sup>7</sup></div></li></ul>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/125645" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">125645</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>JUP</i>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">0.5%-2%</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">See footnote 8.</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Heterozygous variant causes nonsyndromic ARVC.</div></li><li class="half_rhythm"><div>Biallelic variants cause Naxos disease (ARVC w/palmoplantar keratoderma & peculiar woolly hair).</div></li></ul>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/173325" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">173325</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TMEM43</i>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Definitive <sup>9</sup></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Founder variant in population from Newfoundland, Canada <sup>10</sup></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Auditory neuropathy; <i>TMEM43</i>-related myopathies</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/612048" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">612048</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>DES</i>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moderate</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Founder variant in Dutch population <sup>11</sup></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/dcm-ov/">DCM</a>; conduction system disease; myofibrillar myopathy; Kaiser-type neurogenic scapuloperoneal syndrome</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/125660" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">125660</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>PLN</i>
|
||
</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rare</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Moderate</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/dcm-ov/">DCM</a>; <a href="/books/n/gene/hyper-card/">HCM</a></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/172405" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">172405</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown <sup>12</sup></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">~40%</td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_arvd.T.genes_associated_with_arrhythmoge_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">ARVC = arrhythmogenic right ventricular cardiomyopathy; DCM = dilated cardiomyopathy; HCM = hypertrophic cardiomyopathy; LV = left ventricle; RV = right ventricle; VT = ventricular tachycardia</p></div></dd><dt>1. </dt><dd><div id="arvd.TF.1.1"><p class="no_margin">Genes are organized first by strength of ClinGen classification, then frequency of causation of ARVC, and then alphabetically.</p></div></dd><dt>2. </dt><dd><div id="arvd.TF.1.2"><p class="no_margin">See <a class="bk_pop" href="#arvd.REF.bao.2013.552">Bao et al [2013]</a>, <a class="bk_pop" href="#arvd.REF.rigato.2013.533">Rigato et al [2013]</a>, <a class="bk_pop" href="#arvd.REF.groeneweg.2015.437">Groeneweg et al [2015]</a>, <a class="bk_pop" href="#arvd.REF.lazzarini.2015.403">Lazzarini et al [2015]</a>, and <a class="bk_pop" href="#arvd.REF.james.2021.e003273">James et al [2021]</a>. The proportion of ARVC attributed to specific genes varied by cohort studied, suggesting that the relative contribution of the different genes associated with ARVC may differ based on ethnicity and also on the medical care setting at the time of diagnosis (since the criteria for diagnosis of ARVC and for genetic testing may differ).</p></div></dd><dt>3. </dt><dd><div id="arvd.TF.1.3"><p class="no_margin">Homozygosity for <i>DSG2</i> variant c.1592T>G (p.Phe531Cys) was identified in 8/18 individuals studied and <a class="def" href="/books/n/gene/glossary/def-item/allele-frequency/">allele frequency</a> was 0.12% in the East Asian population [<a class="bk_pop" href="#arvd.REF.chen.2019.263">Chen et al 2019</a>].</p></div></dd><dt>4. </dt><dd><div id="arvd.TF.1.4"><p class="no_margin">See <a href="https://search.clinicalgenome.org/kb/conditions/MONDO:0011581" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinGen: Arrhythmogenic Cardiomyopathy with Woolly Hair and Keratoderma</a>.</p></div></dd><dt>5. </dt><dd><div id="arvd.TF.1.5"><p class="no_margin">Truncating variants in <i>DSP</i> have also been identified in individuals with a myocarditis <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> (delayed enhancement on cardiac MRI, increased FDG uptake on FDG-PET, and biopsy findings of myocarditis) and sarcoidosis-like phenotype [<a class="bk_pop" href="#arvd.REF.smith.2020.1872">Smith et al 2020</a>, <a class="bk_pop" href="#arvd.REF.ammirati.2022.714">Ammirati et al 2022</a>, <a class="bk_pop" href="#arvd.REF.lota.2022.1123">Lota et al 2022</a>].</p></div></dd><dt>6. </dt><dd><div id="arvd.TF.1.6"><p class="no_margin">See <a href="https://search.clinicalgenome.org/kb/conditions/MONDO:0016342" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinGen: Familial Isolated Arrhythmogenic Right Ventricular Dysplasia</a>.</p></div></dd><dt>7. </dt><dd><div id="arvd.TF.1.7"><p class="no_margin"><i>DSC2</i> variant c.1660C>T (p.Gln554Ter) is a <a class="def" href="/books/n/gene/glossary/def-item/founder-variant/">founder variant</a> in the Hutterite population; homozygosity for p.Gln554Ter is associated with early-onset ARVC [<a class="bk_pop" href="#arvd.REF.wong.2014.e001407">Wong et al 2014</a>].</p></div></dd><dt>8. </dt><dd><div id="arvd.TF.1.8"><p class="no_margin">ClinGen includes <i>JUP</i> as having "Clinical Actionability" for ARVC but does not provide the <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-disease validity classification (see <a href="https://search.clinicalgenome.org/kb/genes/HGNC:6207" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">https://search<wbr style="display:inline-block"></wbr>.clinicalgenome<wbr style="display:inline-block"></wbr>.org/kb/genes/HGNC:6207</a>).</p></div></dd><dt>9. </dt><dd><div id="arvd.TF.1.9"><p class="no_margin">See <a href="https://search.clinicalgenome.org/kb/conditions/MONDO:0011459" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinGen: Arrhythmogenic Right Ventricular Dysplasia 5</a>.</p></div></dd><dt>10. </dt><dd><div id="arvd.TF.1.10"><p class="no_margin"><i>TMEM43</i> variant c.1073C>T (p.Ser358Leu) is a highly penetrant <a class="def" href="/books/n/gene/glossary/def-item/founder-variant/">founder variant</a> in the Newfoundland, Canada, population characterized by left ventricular involvement and higher risk for sudden cardiac death [<a class="bk_pop" href="#arvd.REF.dominguez.2020.945">Dominguez et al 2020</a>].</p></div></dd><dt>11. </dt><dd><div id="arvd.TF.1.11"><p class="no_margin"><i>DES</i> variant c.38C>T (p.Ser13Phe) is a Dutch <a class="def" href="/books/n/gene/glossary/def-item/founder-variant/">founder variant</a> that confers variable expression with right ventricular involvement that is consistent with ARVC but also conduction system disease, which is less common with ARVC [<a class="bk_pop" href="#arvd.REF.van_tintelen.2009.407">van Tintelen et al 2009</a>].</p></div></dd><dt>12. </dt><dd><div id="arvd.TF.1.12"><p class="no_margin"><a class="bk_pop" href="#arvd.REF.james.2021.e003273">James et al [2021]</a>, <a class="bk_pop" href="#arvd.REF.christensen.2022.858">Christensen et al [2022]</a></p></div></dd></dl></div></div></div><p><b>Note:</b> Studies from large population databases as well as from genetic testing in non-cardiology populations have identified pathogenic variants in genes encoding desmosomal proteins (i.e., <i>DSC2</i>, <i>DSG2</i>, <i>DSP</i>, <i>JUP</i>, and <i>PKP2</i>), indicating that pathogenic variants in these genes are less likely to be associated with highly penetrant monogenic ARVC [<a class="bk_pop" href="#arvd.REF.haggerty.2017.1245">Haggerty et al 2017</a>, <a class="bk_pop" href="#arvd.REF.hall.2018.1312">Hall et al 2018</a>, <a class="bk_pop" href="#arvd.REF.abicht.2021.637">Abicht et al 2021</a>, <a class="bk_pop" href="#arvd.REF.bourfiss.2022.e003704">Bourfiss et al 2022</a>]. These studies suggest that additional genetic variants, cardiovascular comorbidities, and non-genetic factors contribute to the <a class="def" href="/books/n/gene/glossary/def-item/penetrance/">penetrance</a> of <i>DSC2</i>, <i>DSG2</i>, <i>DSP</i>, J<i>UP</i>, and <i>PKP2-</i>related ARVC.</p><div id="arvd.T.genes_of_interest_in_the_differen" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Genes of Interest in the Differential Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ClinGen Gene Validity Classification: Limited)</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK1131/table/arvd.T.genes_of_interest_in_the_differen/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__arvd.T.genes_of_interest_in_the_differen_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Selected Allelic Disorders</th><th id="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">OMIM Gene Entry</th></tr></thead><tbody><tr><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CDH2</i>
|
||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Agenesis of corpus callosum, cardiac, ocular, & genital syndrome</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/114020" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">114020</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CTNNA3</i>
|
||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/607667" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">607667</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>LMNA</i>
|
||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/cmt/">CMT</a>; <a href="/books/n/gene/edmd/">Emery-Dreifuss muscular dystrophy</a>; heart-hand syndrome, Slovenian type; <a href="/books/n/gene/hgps/">Hutchinson-Gilford progeria syndrome</a>; <a href="/books/n/gene/dcm-lmna/"><i>LMNA</i>-related DCM</a></td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/150330" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">150330</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MYBPC3</i>
|
||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/dcm-ov/">DCM</a>; <a href="/books/n/gene/hyper-card/">HCM</a>; left ventricular noncompaction</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/600958" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">600958</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MYH7</i>
|
||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/dcm-ov/">DCM</a>; <a href="/books/n/gene/hyper-card/">HCM</a>; <a href="/books/n/gene/mpd1/">Laing distal myopathy</a>; left ventricular noncompaction; myosin storage myopathy; scapuloperoneal myopathy</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/160760" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">160760</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>MYL3</i>
|
||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="/books/n/gene/hyper-card/">HCM</a>
|
||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/160790" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">160790</a>
|
||
</td></tr><tr><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>RYR2</i>
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</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="/books/n/gene/cvt/">Catecholaminergic polymorphic ventricular tachycardia</a>
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</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://omim.org/entry/180902" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">180902</a>
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</td></tr><tr><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<i>SCN5A</i>
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||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Atrial fibrillation; <a href="/books/n/gene/brugada/">Brugada syndrome</a>; <a href="/books/n/gene/dcm-ov/">DCM</a>; <a class="def" href="/books/n/gene/glossary/def-item/familial/">familial</a> paroxysmal ventricular fibrillation; <a href="/books/n/gene/rws/">long QT syndrome</a>; progressive conduction system disease; sick sinus syndrome</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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||
<a href="https://omim.org/entry/600163" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">600163</a>
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</td></tr><tr><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>TGFB3</i>
|
||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
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<a href="/books/n/gene/loeys-dietz/">Loeys-Dietz syndrome</a>
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||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
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<a href="https://omim.org/entry/190230" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">190230</a>
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||
</td></tr><tr><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TJP1</i>
|
||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"></td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/601009" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">601009</a>
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||
</td></tr><tr><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>TTN</i>
|
||
</td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><a href="/books/n/gene/dcm-ov/">DCM</a>; <a href="/books/n/gene/hyper-card/">HCM</a>; <a href="/books/n/gene/hmerf/">hereditary myopathy w/early respiratory failure</a>; <a href="/books/n/gene/salih-myo/">Salih myopathy</a>; <a href="/books/n/gene/udd/">Udd distal myopathy – tibial muscular dystrophy</a></td><td headers="hd_h_arvd.T.genes_of_interest_in_the_differen_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://omim.org/entry/188840" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">188840</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">See <a href="https://search.clinicalgenome.org/kb/conditions/MONDO:0016587" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinGen Gene Validity Classification: ARVC</a>.</p></div></dd><dt>1. </dt><dd><div id="arvd.TF.2.1"><p class="no_margin">Genes are organized alphabetically.</p></div></dd></dl></div></div></div></div><div id="arvd.Evaluation_Strategy_to_Identify_the"><h2 id="_arvd_Evaluation_Strategy_to_Identify_the_">3. Evaluation Strategy to Identify the Genetic Cause of Arrhythmogenic Right Ventricular Cardiomyopathy</h2><p>Molecular genetic testing is recommended in individuals who both fulfill diagnostic criteria as well as those with suspected arrhythmogenic right ventricular cardiomyopathy (ARVC) to (1) confirm the diagnosis of ARVC, as identification of an ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> is a major diagnostic criteria in the 2010 Task Force Criteria [<a class="bk_pop" href="#arvd.REF.marcus.2010.806">Marcus et al 2010</a>]; (2) guide management in those with more than one ARVC-related pathogenic variant identified [<a class="bk_pop" href="#arvd.REF.towbin.2019.e301">Towbin et al 2019</a>, <a class="bk_pop" href="#arvd.REF.james.2021.e003273">James et al 2021</a>]; and (3) enable testing of at-risk relatives (see <a href="#arvd.Genetic_Risk_Assessment">Genetic Risk Assessment</a> and <a href="#arvd.Surveillance_for_Cardiac_Involvemen">Surveillance for Cardiac Involvement</a>).</p><p>Note: American College of Cardiology / American Heart Association / Heart Rhythm Society (AHA/ACC/HRS) guideline for management of ventricular arrhythmias and prevention of sudden cardiac death recommend <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> and <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> for individuals with clinically diagnosed or suspected ARVC as a class IIa recommendation (i.e., a moderate level of evidence supports the recommendation is reasonable, can be useful/effective/beneficial, and the benefits outweigh the risks) [<a class="bk_pop" href="#arvd.REF.alkhatib.2018.e73">Al-Khatib et al 2018</a>].</p><p>Establishing the specific genetic cause of ARVC usually involves an evaluation with a cardiologist including medical history, physical examination, cardiology assessment, family history, and <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>. Note: Molecular genetic testing should begin with a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with a clinical diagnosis of ARVC or suspected ARVC rather than an unaffected family member; molecular testing of an affected individual will provide the most informative results [<a class="bk_pop" href="#arvd.REF.james.2021.e003273">James et al 2021</a>].</p><div id="arvd.Medical_Evaluation"><h3>Medical Evaluation</h3><p><b>Medical history and physical examination</b> are directed at identifying physical features associated with specific genetic causes of ARVC (<a href="/books/NBK1131/table/arvd.T.genes_associated_with_arrhythmoge/?report=objectonly" target="object" rid-ob="figobarvdTgenesassociatedwitharrhythmoge">Table 1</a>).</p><p><b>Cardiology evaluation</b> includes imaging to visualize the right ventricle, stress testing, and telemetric cardiac rhythm monitoring, as dictated by personal and family history.</p><p><b>Family history</b> should include a three-generation family history with attention to heart palpitations, syncope, and sudden death in relatives; and documentation of relevant findings through direct examination or review of medical records, including results of <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a>, cardiovascular and physical examinations, and postmortem examination. Founder variants associated with ARVC have been reported in individuals of Dutch and Hutterite ancestry as well as in individuals from East Asia and Newfoundland, Canada (see <a href="/books/NBK1131/table/arvd.T.genes_associated_with_arrhythmoge/?report=objectonly" target="object" rid-ob="figobarvdTgenesassociatedwitharrhythmoge">Table 1</a>).</p></div><div id="arvd.Molecular_Genetic_Testing"><h3>Molecular Genetic Testing</h3><p>The molecular cause of ARVC is established in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> by identification of a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> pathogenic (or <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>) variant in one of the known ARVC genes (see <a href="/books/NBK1131/table/arvd.T.genes_associated_with_arrhythmoge/?report=objectonly" target="object" rid-ob="figobarvdTgenesassociatedwitharrhythmoge">Table 1</a>). Note: <i>DSC2</i> and <i>DSG2</i> are most often associated with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> ARVC; in rare instances <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> <i>DSC2</i> or <i>DSG2</i> pathogenic variants cause <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> ARVC [<a class="bk_pop" href="#arvd.REF.wong.2014.e001407">Wong et al 2014</a>, <a class="bk_pop" href="#arvd.REF.qadri.2017.86">Qadri et al 2017</a>, <a class="bk_pop" href="#arvd.REF.chen.2019.263">Chen et al 2019</a>].</p><p>Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "<a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>" and "<a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a> variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [<a class="bk_pop" href="#arvd.REF.richards.2015.405">Richards et al 2015</a>]. Reference to "pathogenic variants" in this <i>GeneReview</i> is understood to include likely pathogenic variants. (2) Identification of a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> variant of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> does not establish or rule out the diagnosis.</p><p>Molecular genetic testing approaches can include a combination of <b><a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted testing</b> (<a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a>) and <b>comprehensive</b>
|
||
<b><a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> (<a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a>, <a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a>) depending on the <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>.</p><p>Gene-targeted testing requires that the clinician determine which <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>(s) are likely involved, whereas <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing does not. In individuals with a clinical diagnosis of ARVC consider a <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a> (see <a href="#arvd.Option_1">Option 1</a>), whereas those with a <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> indistinguishable from many other disorders with arrhythmia and/or cardiomyopathy may be more likely to be diagnosed using genomic testing (see <a href="#arvd.Option_2">Option 2</a>).</p><div id="arvd.Option_1"><h4>Option 1</h4><p><b>A <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a></b> should minimally include definitive genes (as classified by ClinGen; see <a href="/books/NBK1131/table/arvd.T.genes_associated_with_arrhythmoge/?report=objectonly" target="object" rid-ob="figobarvdTgenesassociatedwitharrhythmoge">Table 1</a>), including <i>DSC2</i>, <i>DSG2</i>, <i>DSP</i>, <i>JUP</i>, <i>PKP2</i>, <i>TMEM43</i>, and moderate genes (<i>DES</i>, <i>PLN</i>). It is reasonable to include other genes of interest, including <i>CTNNA3</i>, <i>LMNA</i>, <i>RYR2</i>, <i>TGFB3</i>, and <i>TTN</i> (see also <a href="/books/NBK1131/table/arvd.T.genes_of_interest_in_the_differen/?report=objectonly" target="object" rid-ob="figobarvdTgenesofinterestinthedifferen">Table 2</a>). Note: (1) A larger multigene panel will increase diagnostic yield but will also increase identification of variants of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> [<a class="bk_pop" href="#arvd.REF.dellefavecastillo.2022.966">Dellefave-Castillo et al 2022</a>]. (2) The genes included in the panel and the diagnostic <a class="def" href="/books/n/gene/glossary/def-item/sensitivity/">sensitivity</a> of the testing used for each <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> vary by laboratory and are likely to change over time. (3) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>; thus, clinicians need to determine which multigene panel is most appropriate. (4) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>-focused <a class="def" href="/books/n/gene/glossary/def-item/exome/">exome</a> analysis that includes genes specified by the clinician. (5) Methods used in a panel may include <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a>, <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a>, and/or other non-sequencing-based tests. (6) Large deletions/duplications have been reported in <i>DES</i>, <i>DSC2</i>, <i>DSG2</i>, <i>DSP</i>, <i>PKP2</i>, <i>PLN</i>, and <i>TMEM43</i>; thus, testing methods should include analysis to detect single- or multiexon deletions/duplications.</p><p>For an introduction to multigene panels click <a href="/books/n/gene/app5/#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/#app5.Multigene_Panels_FAQs">here</a>.</p></div><div id="arvd.Option_2"><h4>Option 2</h4><p><b>More comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> (when available) including <b><a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a></b> and <b><a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a></b> may be considered. Alternatively, broader cardiomyopathy <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> panels can be considered as first-line testing, as there is phenotypic and genotypic overlap with dilated, hypertrophic, and left ventricular noncompaction cardiomyopathies [<a class="bk_pop" href="#arvd.REF.dellefavecastillo.2022.966">Dellefave-Castillo et al 2022</a>]. A broader cardiomyopathy panel can also be considered as an intermediate test prior to using comprehensive genomic testing. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation).</p><p>For an introduction to comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing click <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing_1">here</a>.</p></div></div></div><div id="arvd.Management_of_Arrhythmogenic_Right"><h2 id="_arvd_Management_of_Arrhythmogenic_Right_">4. Management of Arrhythmogenic Right Ventricular Cardiomyopathy</h2><p>This section provides information regarding risk assessment for arrhythmogenic right ventricular cardiomyopathy (ARVC), surveillance for cardiac involvement, and recommendations for medical and surgical management based (when possible) on the genetic cause.</p><div id="arvd.Risk_Assessment_for_ARVC"><h3>Risk Assessment for ARVC</h3><p>To establish the extent of disease and needs of an individual diagnosed with ARVC the following evaluations are recommended if not performed at the time of diagnosis:</p><ul><li class="half_rhythm"><div>EKG</div></li><li class="half_rhythm"><div>Cardiac imaging. Cardiac MRI has improved yield compared to echocardiography, because cardiac MRI is superior in its ability to image the right ventricle and its ability to discern fibrofatty infiltration.</div></li><li class="half_rhythm"><div>Noninvasive monitoring. Cardiac rhythm can be monitored noninvasively through patch recorders that can record heart rate/rhythm data for up to 14 days. Event monitors can gather information for 30 days. Implantable loop recorders are useful for longer-term (three to five years) monitoring. These monitors can detect irregular atrial or ventricular rhythms including nonsustained ventricular tachycardia.</div></li><li class="half_rhythm"><div>Signal-averaged EKGs may also be useful [<a class="bk_pop" href="#arvd.REF.philips.2016.46">Philips & Cheng 2016</a>].</div></li><li class="half_rhythm"><div>Electrophysiology study to assess the risk for ventricular arrhythmias and determine if an implantable cardioverter-defibrillator may be indicated. Cardiac catheter ablation of tissue causing abnormal rhythms can be performed during the electrophysiology study (see <a href="#arvd.Recommendations_for_Medical_and_Sur">Recommendations for Medical and Surgical Management of ARVC</a>).</div></li></ul></div><div id="arvd.Surveillance_for_Cardiac_Involvemen"><h3>Surveillance for Cardiac Involvement</h3><p><b>Proband.</b> Screening for degree of cardiac involvement in persons diagnosed with ARVC is essential to ascertain severity and disease progression over time. Screening recommendations include the following:</p><ul><li class="half_rhythm"><div>EKG, annually or more frequently depending on symptoms</div></li><li class="half_rhythm"><div>Holter monitoring, event monitoring, implantable loop recorder</div></li><li class="half_rhythm"><div>Exercise stress testing</div></li><li class="half_rhythm"><div>Cardiac MRI, with frequency depending on symptoms and findings</div></li><li class="half_rhythm"><div>Echocardiogram, with frequency depending on symptoms and findings and degree of left ventricular involvement (and with knowledge that echocardiogram is insufficient for evaluating the right ventricle)</div></li></ul><p><b>Family members who have tested positive for the ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>(s) identified in an affected relative.</b> Surveillance is similar as for ARVC in a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</p><p><b>First-degree relatives (i.e., parents, sibs, offspring) of an affected individual in whom the specific genetic cause of ARVC has not been identified.</b> If genetic testing has not been performed or did not identify a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in an affected family member, screening for cardiac involvement is recommended for asymptomatic at-risk first-degree relatives every one to three years after age ten years [<a class="bk_pop" href="#arvd.REF.towbin.2019.e301">Towbin et al 2019</a>].</p><p><b>Screening for cardiac involvement</b> comprises the following [<a class="bk_pop" href="#arvd.REF.towbin.2019.e301">Towbin et al 2019</a>, <a class="bk_pop" href="#arvd.REF.wilde.2022.e1">Wilde et al 2022</a>]:</p><ul><li class="half_rhythm"><div>Medical history, with attention to symptoms of arrhythmia, presyncope, syncope, and heart failure</div></li><li class="half_rhythm"><div>EKG, with consideration of signal-averaged EKG</div></li><li class="half_rhythm"><div>Holter monitoring</div></li><li class="half_rhythm"><div>Cardiac MRI</div></li><li class="half_rhythm"><div>Echocardiogram</div></li></ul><p>At-risk first-degree relatives with any abnormal clinical screening tests for cardiac involvement should be considered for repeat clinical screening in one year [<a class="bk_pop" href="#arvd.REF.towbin.2019.e301">Towbin et al 2019</a>].</p><p><b>Children younger than age ten</b>
|
||
<b>years</b> are not usually screened, as manifestations of ARVC are not usually seen in children prior to age ten years. See <a class="bk_pop" href="#arvd.REF.hamilton.2009.571">Hamilton & Fidler [2009]</a> for a review of screening for ARVC in younger individuals. A study in younger individuals suggested that cardiac MRI was more sensitive than echocardiogram but that it was still unusual, even with cardiac MRI, to identify ARVC in children before age ten years [<a class="bk_pop" href="#arvd.REF.etoom.2015.987">Etoom et al 2015</a>].</p><p><b>In children younger than age 18 years.</b> The 2010 Task Force Criteria [<a class="bk_pop" href="#arvd.REF.marcus.2010.806">Marcus et al 2010</a>] should be used with caution, as many of the EKG diagnostic criteria are a normal finding in children, such as inverted T waves in right precordial leads (V1, V2, and V3) [<a class="bk_pop" href="#arvd.REF.te_riele.2021.750916">Te Riele et al 2021</a>]. Cardiac MRI has been shown to have a better positive predictive value (and especially data from echocardiogram and cardiac MRI combined) [<a class="bk_pop" href="#arvd.REF.steinmetz.2018.1156">Steinmetz et al 2018</a>, <a class="bk_pop" href="#arvd.REF.te_riele.2021.750916">Te Riele et al 2021</a>].</p></div><div id="arvd.Recommendations_for_Medical_and_Sur"><h3>Recommendations for Medical and Surgical Management of ARVC</h3><p>Affected individuals should be monitored by a cardiologist who is knowledgeable about ARVC. Management of individuals with ARVC is complicated by its variable course and the limited specificity of clinical findings to predict arrhythmia risk. Management should be individualized and based on the specific results of detailed clinical and genetic investigation.</p><div id="arvd.GeneSpecific_Management_Recommendat"><h4>Gene-Specific Management Recommendations</h4><p><b><i>DSP</i>.</b> Because of the risk of left ventricular dysfunction associated with <i>DSP</i> pathogenic variants [<a class="bk_pop" href="#arvd.REF.smith.2020.1872">Smith et al 2020</a>], management for individuals with <i>DSP</i>-related ARVC should address monitoring and management for left ventricular dysfunction, including guideline-directed therapy [<a class="bk_pop" href="#arvd.REF.towbin.2019.e301">Towbin et al 2019</a>, <a class="bk_pop" href="#arvd.REF.heidenreich.2022.1757">Heidenreich et al 2022</a>].</p></div><div id="arvd.General_Management_Recommendations"><h4>General Management Recommendations for ARVC</h4><p>Treatment recommendations for ARVC can be found in an international task force consensus statement [<a class="bk_pop" href="#arvd.REF.corrado.2015.441">Corrado et al 2015</a>]. Additional guidance is found in the American College of Cardiology / American Heart Association / Heart Rhythm Society (AHA/ACC/HRS) guideline for management of individuals with ventricular arrhythmias and the prevention of sudden cardiac death [<a class="bk_pop" href="#arvd.REF.alkhatib.2018.e73">Al-Khatib et al 2018</a>] and in an updated Heart Rhythm Society guideline for arrhythmogenic cardiomyopathy [<a class="bk_pop" href="#arvd.REF.towbin.2019.e301">Towbin et al 2019</a>].</p><ul><li class="half_rhythm"><div>Management is focused on prevention of syncope, cardiac arrest, and sudden death (see <a href="#arvd.Prevention_of_Primary_Manifestation">Prevention of Primary Manifestations</a>).</div></li><li class="half_rhythm"><div>Beta-blockers are considered first-line therapy [<a class="bk_pop" href="#arvd.REF.corrado.2015.441">Corrado et al 2015</a>, <a class="bk_pop" href="#arvd.REF.towbin.2019.e301">Towbin et al 2019</a>, <a class="bk_pop" href="#arvd.REF.heidenreich.2022.1757">Heidenreich et al 2022</a>].</div></li><li class="half_rhythm"><div>Anti-arrhythmia agents including sotalol and amiodarone may also be effective [<a class="bk_pop" href="#arvd.REF.corrado.2015.441">Corrado et al 2015</a>, <a class="bk_pop" href="#arvd.REF.towbin.2019.e301">Towbin et al 2019</a>].</div></li><li class="half_rhythm"><div>A decrease of ventricular tachycardia burden has been observed after successful catheter ablation [<a class="bk_pop" href="#arvd.REF.mahida.2019.536">Mahida et al 2019</a>, <a class="bk_pop" href="#arvd.REF.christiansen.2020.803">Christiansen et al 2020</a>, <a class="bk_pop" href="#arvd.REF.daimee.2021.1369">Daimee et al 2021</a>].</div></li><li class="half_rhythm"><div>The primary treatment for ventricular tachycardia is implantable cardioverter-defibrillator placement, either transvenous or subcutaneous. Risk-benefit analysis for device insertion and management should be balanced against clinical risk stratification for arrhythmias [<a class="bk_pop" href="#arvd.REF.orgeron.2018.e008782">Orgeron et al 2018</a>].</div></li><li class="half_rhythm"><div>Heart transplantation is considered when ARVC has progressed to right or left ventricular heart failure. Severe diffuse biventricular involvement simulating dilated cardiomyopathy and requiring heart transplantation is rare.</div></li><li class="half_rhythm"><div>Education should be provided regarding risk of sudden death to affected adults and parents/caregivers of affected children.</div></li></ul></div></div><div id="arvd.Prevention_of_Primary_Manifestation"><h3>Prevention of Primary Manifestations</h3><p>Prospective randomized trials have not been conducted in individuals with ARVC for the prevention of arrhythmias. Management relies on personalized recommendations based on clinical assessment.</p><p><b>Implantable cardioverter-defibrillators (ICDs).</b> Observational studies support that ICD placement is effective in reducing the risk for sudden cardiac death in individuals with ARVC. ICD placement should be considered in anyone with a clinical diagnosis of ARVC; scoring systems have been developed to ascertain risk and guide device management [<a class="bk_pop" href="#arvd.REF.jord_.2022.3041">Jordà et al 2022</a>]. <a class="bk_pop" href="#arvd.REF.wallace.2021.26">Wallace & Calkins [2021]</a> describe risk factors for ventricular arrhythmias or sudden cardiac death. Risk for ventricular tachycardia or sudden cardiac death include the following [<a class="bk_pop" href="#arvd.REF.towbin.2019.e301">Towbin et al 2019</a>]:</p><ul><li class="half_rhythm"><div>Prior history of sustained ventricular tachycardia or ventricular fibrillation</div></li><li class="half_rhythm"><div>Elevated burden of premature ventricular contractions (more than 1,000 in 24 hours)</div></li><li class="half_rhythm"><div>Nonsustained ventricular tachycardia</div></li><li class="half_rhythm"><div>A prior history of syncope</div></li><li class="half_rhythm"><div>Male sex. Males are more likely to be diagnosed and are 1.6 times more likely to have ventricular arrhythmias and to receive an appropriate shock from their ICD for ventricular arrhythmias than females [<a class="bk_pop" href="#arvd.REF.akdis.2017.1498">Akdis et al 2017</a>].</div></li><li class="half_rhythm"><div>Intense exercise [<a class="bk_pop" href="#arvd.REF.james.2013.1290">James et al 2013</a>, <a class="bk_pop" href="#arvd.REF.gasperetti.2020.1251">Gasperetti et al 2020</a>]</div></li><li class="half_rhythm"><div>Degree of myocardial involvement, defined as right ventricular ejection fraction ≤45% or >2 areas of regional dysfunction [<a class="bk_pop" href="#arvd.REF.wichter.2004.1503">Wichter et al 2004</a>]</div></li><li class="half_rhythm"><div><i>PKP2</i> or <i>DSP</i> pathogenic variants. ARVC due to <i>PKP2</i> or <i>DSP</i> pathogenic variants was correlated with increased risk for a life-threatening arrhythmic event; this was greatest between ages 21 and 40 years [<a class="bk_pop" href="#arvd.REF.alkhatib.2018.e73">Al-Khatib et al 2018</a>].</div></li></ul><p>The AHA/ACC/HRS and Heart Rhythm Society (HRS) guidelines, which are based on experience and previously published reports, recommend ICD placement as a class I indication (i.e., procedure/treatment <b>should</b> be performed) for prevention of sudden cardiac death in individuals with resuscitated sudden cardiac arrest, documented sustained ventricular tachycardia or ventricular fibrillation, or significant ventricular dysfunction with right ventricular ejection fraction or left ventricular ejection fraction ≤35% who have a reasonable expectation of survival with good functional status for more than one year. Class II indications for ICD placement (i.e., it is <b>reasonable</b> to perform procedure/treatment) include syncope presumed due to ventricular arrhythmias; an ICD can be useful if meaningful survival greater than one year is expected [<a class="bk_pop" href="#arvd.REF.alkhatib.2018.e73">Al-Khatib et al 2018</a>, <a class="bk_pop" href="#arvd.REF.towbin.2019.e301">Towbin et al 2019</a>].</p></div><div id="arvd.AgentsCircumstances_to_Avoid"><h3>Agents/Circumstances to Avoid</h3><p>Individuals with ARVC are discouraged from participating in frequent, intense physical exercise and intense competitive athletic activity because of the strain caused on the right heart [<a class="bk_pop" href="#arvd.REF.corrado.2015.441">Corrado et al 2015</a>, <a class="bk_pop" href="#arvd.REF.alkhatib.2018.e73">Al-Khatib et al 2018</a>].</p></div><div id="arvd.Pregnancy_Management"><h3>Pregnancy Management</h3><p>The majority of individuals with ARVC tolerate pregnancy well with no additional complications [<a class="bk_pop" href="#arvd.REF.hodes.2016.303">Hodes et al 2016</a>, <a class="bk_pop" href="#arvd.REF.platonov.2020.1873">Platonov et al 2020</a>]. One study found 13% of individuals with ARVC had ventricular arrhythmias and 5% had heart failure [<a class="bk_pop" href="#arvd.REF.hodes.2016.303">Hodes et al 2016</a>], and a separate study found an elevated risk of ventricular arrhythmias during the two years postpartum in women diagnosed with ARVC prior to conception, with only two events occurring during pregnancy [<a class="bk_pop" href="#arvd.REF.platonov.2020.1873">Platonov et al 2020</a>]. Specific guidelines for managing ARVC in pregnancy have not been developed, but individuals with ARVC should be managed by a multidisciplinary team.</p></div></div><div id="arvd.Genetic_Risk_Assessment_and_Evaluat"><h2 id="_arvd_Genetic_Risk_Assessment_and_Evaluat_">5. Genetic Risk Assessment and Evaluation of Relatives At-Risk</h2><p>A basic view of arrhythmogenic right ventricular cardiomyopathy (ARVC) genetic risk assessment for at-risk family members is presented in this section; issues that may be specific to a given family or genetic cause of nonsyndromic ARVC are not comprehensively addressed.</p><p>Note: If a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a specific syndrome associated with ARVC (e.g., Naxos syndrome or Carvajal syndrome), counseling for that condition is indicated. Genetic risk assessment in families with <a class="def" href="/books/n/gene/glossary/def-item/syndromic/">syndromic</a> ARVC is not discussed further in this section.</p><div id="arvd.Genetic_Risk_Assessment"><h3>Genetic Risk Assessment</h3><p><i>DES</i>, <i>DSC2</i>, <i>DSG2</i>, <i>DSP</i>, J<i>UP</i>, <i>PKP2</i>, <i>PLN</i>, and <i>TMEM43</i> are associated with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> ARVC, with the exception of <i>DSC2</i> and <i>DSG2</i>, which are associated with both autosomal dominant and (rarely) <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a> ARVC.</p><p>Both <i>DSC2</i>-related ARVC and <i>DSG2</i>-related ARVC are typically inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> manner.</p><ul><li class="half_rhythm"><div>Autosomal recessive <i>DSC2</i>-related ARVC has been reported in the Hutterite population in association with the <a class="def" href="/books/n/gene/glossary/def-item/founder-variant/">founder variant</a> c.1660C>T (p.Gln554Ter) [<a class="bk_pop" href="#arvd.REF.wong.2014.e001407">Wong et al 2014</a>]. It is not known if heterozygosity for this founder variant is associated with an increased risk for ARVC.</div></li><li class="half_rhythm"><div>Autosomal recessive <i>DSG2</i>-related ARVC has been reported in two families to date [<a class="bk_pop" href="#arvd.REF.qadri.2017.86">Qadri et al 2017</a>].</div></li></ul><p>Approximately 2%-4% of individuals with ARVC have more than one <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>. These individuals have either <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> pathogenic variants in one <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> (<a class="def" href="/books/n/gene/glossary/def-item/compound-heterozygous/">compound heterozygous</a> or <a class="def" href="/books/n/gene/glossary/def-item/homozygous/">homozygous</a> pathogenic variants) or <a class="def" href="/books/n/gene/glossary/def-item/double-heterozygosity/">double heterozygosity</a>* for pathogenic variants in more than one ARVC-related gene [<a class="bk_pop" href="#arvd.REF.xu.2010.587">Xu et al 2010</a>, <a class="bk_pop" href="#arvd.REF.bao.2013.552">Bao et al 2013</a>, <a class="bk_pop" href="#arvd.REF.rigato.2013.533">Rigato et al 2013</a>, <a class="bk_pop" href="#arvd.REF.bhonsale.2015.847">Bhonsale et al 2015</a>, <a class="bk_pop" href="#arvd.REF.groeneweg.2015.437">Groeneweg et al 2015</a>, <a class="bk_pop" href="#arvd.REF.lin.2018.837">Lin et al 2018</a>, <a class="bk_pop" href="#arvd.REF.chen.2019.263">Chen et al 2019</a>, <a class="bk_pop" href="#arvd.REF.murray.2020">Murray et al 2020</a>, <a class="bk_pop" href="#arvd.REF.brodehl.2021.3786">Brodehl et al 2021</a>, <a class="bk_pop" href="#arvd.REF.te_riele.2021.750916">Te Riele et al 2021</a>]. Individuals with more than one ARVC-related pathogenic variant have a propensity to more severe disease, including a younger age of onset, arrhythmias, and progression to cardiomyopathy [<a class="bk_pop" href="#arvd.REF.bao.2013.552">Bao et al 2013</a>, <a class="bk_pop" href="#arvd.REF.rigato.2013.533">Rigato et al 2013</a>, <a class="bk_pop" href="#arvd.REF.bhonsale.2015.847">Bhonsale et al 2015</a>, <a class="bk_pop" href="#arvd.REF.groeneweg.2015.437">Groeneweg et al 2015</a>, <a class="bk_pop" href="#arvd.REF.chen.2019.263">Chen et al 2019</a>, <a class="bk_pop" href="#arvd.REF.brodehl.2021.3786">Brodehl et al 2021</a>].</p><p>* The presence of pathogenic variants in two different ARVC-related genes may be referred to in cardiology literature as "<a class="def" href="/books/n/gene/glossary/def-item/digenic/">digenic</a> ARVC." In genetics literature, the term "digenic" more typically refers to expression of a <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> that requires the presence of pathogenic variants in two different genes. While additional genetic variants may modify outcome and result in more specific disease, nonsyndromic ARVC can be caused by the presence of one <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in one ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>.</p></div><div id="arvd.Risk_to_Family_Members_Autosomal_Do"><h3>Risk to Family Members (Autosomal Dominant Inheritance)</h3><p>
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<b>Parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
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</p><ul><li class="half_rhythm"><div class="half_rhythm">The majority of individuals diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> ARVC inherited a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> from a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> parent [<a class="bk_pop" href="#arvd.REF.van_lint.2019.e002467">van Lint et al 2019</a>]. A parent who is heterozygous for an ARVC-related pathogenic variant may or may not have ARVC-related clinical findings.</div></li><li class="half_rhythm"><div class="half_rhythm">If a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has two pathogenic variants in the same ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>, both parents may be <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a>. If a proband has pathogenic variants in two different ARVC-related genes, both parents may be heterozygous or, less commonly, one parent may have two pathogenic variants.</div></li><li class="half_rhythm"><div class="half_rhythm">Rarely, a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> ARVC may have the disorder as the result of a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>. In one study, 1.4% of affected individuals had the disorder as the result of a <i>de novo</i> pathogenic variant [<a class="bk_pop" href="#arvd.REF.van_lint.2019.e002467">van Lint et al 2019</a>].</div></li><li class="half_rhythm"><div class="half_rhythm">If the status of the parents is unknown:</div><ul><li class="half_rhythm"><div>And a molecular diagnosis has been confirmed in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>, targeted <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> is recommended for the parents of the proband to evaluate their genetic status, clarify their need for cardiac surveillance, and inform <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> assessment;</div></li><li class="half_rhythm"><div>And a molecular diagnosis has not been confirmed in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>, recommendations for the evaluation of parents include cardiac MRI or echocardiogram, EKG, and Holter monitoring.</div></li></ul><div class="half_rhythm">Because ARVC may be asymptomatic, both the maternal and paternal lineages should be considered as possibly contributing to <a class="def" href="/books/n/gene/glossary/def-item/familial/">familial</a> ARVC.</div></li><li class="half_rhythm"><div class="half_rhythm">If the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a known <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> that cannot be identified in either parent and parental identity testing has confirmed biological maternity and paternity, the following possibilities should be considered:</div><ul><li class="half_rhythm"><div>The <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li><li class="half_rhythm"><div>The <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> inherited a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> from a parent with <a class="def" href="/books/n/gene/glossary/def-item/germline/">germline</a> (or somatic and germline) <a class="def" href="/books/n/gene/glossary/def-item/mosaicism/">mosaicism</a>. Note: Testing of parental leukocyte DNA may not detect all instances of <a class="def" href="/books/n/gene/glossary/def-item/somatic-mosaicism/">somatic mosaicism</a> and will not detect a pathogenic variant that is present in the germ cells only.</div></li></ul></li></ul><p><b>Sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The risk to the sibs of the proband depends on the genetic status of the proband's parents:</p><ul><li class="half_rhythm"><div>If one parent of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> is <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for an ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, the risk to the sibs of inheriting the pathogenic variant is 50%.</div></li><li class="half_rhythm"><div>If one parent of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> ARVC-related pathogenic variants, all sibs will inherit an ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li><li class="half_rhythm"><div>If both parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> are <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> for an ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, sibs have a 75% chance of inheriting one or two ARVC-related pathogenic variants and a 25% chance of inheriting neither pathogenic variant.</div></li><li class="half_rhythm"><div>Sibs who inherit an ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> are at increased risk for ARVC and should undergo <a href="#arvd.Surveillance_for_Cardiac_Involvemen">surveillance for cardiac involvement</a>. Risk is further increased in sibs who inherit more than one ARVC-related pathogenic variant. Individuals with more than one ARVC-related pathogenic variant have an increased propensity to arrhythmias and progression to cardiomyopathy [<a class="bk_pop" href="#arvd.REF.bao.2013.552">Bao et al 2013</a>, <a class="bk_pop" href="#arvd.REF.rigato.2013.533">Rigato et al 2013</a>, <a class="bk_pop" href="#arvd.REF.bhonsale.2015.847">Bhonsale et al 2015</a>, <a class="bk_pop" href="#arvd.REF.groeneweg.2015.437">Groeneweg et al 2015</a>].</div></li><li class="half_rhythm"><div>If the parents are clinically unaffected but their genetic status is unknown, sibs are still presumed to be at increased risk for ARVC (and <a href="#arvd.Surveillance_for_Cardiac_Involvemen">surveillance for cardiac involvement</a> is recommended) because of the possibility of reduced <a class="def" href="/books/n/gene/glossary/def-item/penetrance/">penetrance</a> in a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> parent or parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>.</div></li></ul><p>
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<b>Offspring of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
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</p><ul><li class="half_rhythm"><div>Each child of an individual with one ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> has a 50% chance of inheriting the pathogenic variant.</div></li><li class="half_rhythm"><div>Each child of an individual with <a class="def" href="/books/n/gene/glossary/def-item/biallelic/">biallelic</a> pathogenic variants in one ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> will inherit one <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</div></li></ul><p><b>Other family members.</b> The risk to other family members depends on the status of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>'s parents: if one or both parents are affected or have a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>, family members are at risk.</p><p><b>DNA banking.</b> Because it is likely that testing methodology and our understanding of genes, pathogenic mechanisms, and diseases will improve in the future, consideration should be given to banking DNA from probands in whom a molecular diagnosis has not been confirmed (i.e., the causative pathogenic mechanism is unknown). For more information, see <a class="bk_pop" href="#arvd.REF.huang.2022.389">Huang et al [2022]</a>.</p></div><div id="arvd.Evaluation_of_Relatives_at_Risk"><h3>Evaluation of Relatives at Risk</h3><p>It is appropriate to clarify the status of apparently asymptomatic relatives of an individual with ARVC in order to identify as early as possible those who would benefit from prompt initiation of treatment and preventive measures to reduce the risk of syncope, cardiac arrest, and sudden death. Clinical evaluation, <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a>, and targeted genetic testing of at-risk relatives (if the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a known ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>) constitute a class I recommendation in the American College of Cardiology / American Heart Association / Heart Rhythm Society (AHA/ACC/HRS) guideline for management of individuals with ventricular arrhythmias and the prevention of sudden cardiac death [<a class="bk_pop" href="#arvd.REF.alkhatib.2018.e73">Al-Khatib et al 2018</a>].</p><p>Note: Predictive testing should be offered in the context of formal <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a>.</p><p>In order to appropriately assess the risk status of asymptomatic relatives of an individual with ARVC, it is important to ensure that:</p><ul><li class="half_rhythm"><div>The <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a clinical diagnosis of ARVC meeting the 2010 Task Force Criteria [<a class="bk_pop" href="#arvd.REF.marcus.2010.806">Marcus et al 2010</a>]; and</div></li><li class="half_rhythm"><div>The <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> (or pathogenic variants) identified in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> (if applicable) is in a known ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> and represents the full genetic etiology of ARVC in the proband.</div></li></ul><p>If the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> meets 2010 ARVC Task Force Criteria and is identified as having a <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in a <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> not known to be associated with ARVC, then cascade genetic testing in family members is not reliable for ARVC risk assessment because the identified pathogenic variant may not represent the underlying cause of ARVC in the proband or may only partially account for the genetic risk of ARVC in the family. Cascade genetic testing can still be offered for the pathogenic variant identified in the proband, but a complete ARVC evaluation and risk assessment should still occur for all at-risk family members regardless of the results of genetic testing for the pathogenic variant identified in the proband.</p><p><b>Family members of an individual with a clinical diagnosis of ARVC meeting 2010 Task Force Criteria who has a known <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>(s) in an ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>(s).</b> Molecular genetic testing is recommended for parents, sibs, offspring, and other at-risk family members (even those age <18 years) in order to clarify their genetic status, allowing for the following:</p><ul><li class="half_rhythm"><div>Identification of those individuals with a <a class="def" href="/books/n/gene/glossary/def-item/familial/">familial</a> ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>(s) who have an increased lifetime risk for ARVC and should undergo <a href="#arvd.Surveillance_for_Cardiac_Involvemen">surveillance for cardiac involvement</a>. Guidelines exist for screening for cardiac involvement in asymptomatic first-degree relatives at risk for ARVC [<a class="bk_pop" href="#arvd.REF.hershberger.2018.281">Hershberger et al 2018</a>].</div></li><li class="half_rhythm"><div>Identification of individuals without the <a class="def" href="/books/n/gene/glossary/def-item/familial/">familial</a> ARVC-related <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>(s) to be discharged from high-risk cardiac surveillance. Individuals without the familial ARVC-related pathogenic variant(s) can be discharged from high-risk cardiac surveillance ONLY when their ARVC-affected relative has had a detailed discussion with a cardiologist with expertise in ARVC genetics and when this cardiogenetic expert has deemed that the pathogenic <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> variant identified in the affected relative is fully causative of their ARVC disease. If the pathogenic gene variant does not fully explain the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>'s <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>, then family members should continue cardiac screening (see <a href="#arvd.Surveillance_for_Cardiac_Involvemen">Surveillance for Cardiac Involvement</a>).</div></li></ul><p><b>Family members of an individual with a clinical diagnosis of ARVC meeting 2010 Task Force Criteria in whom the specific genetic cause of ARVC has not been identified.</b> Screening for cardiac involvement is recommended for asymptomatic at-risk first-degree relatives (see <a href="#arvd.Surveillance_for_Cardiac_Involvemen">Surveillance for Cardiac Involvement</a>).</p></div></div><div id="arvd.Resources"><h2 id="_arvd_Resources_">Resources</h2><p>
|
||
<i>GeneReviews staff has selected the following disease-specific and/or umbrella
|
||
support organizations and/or registries for the benefit of individuals with this disorder
|
||
and their families. GeneReviews is not responsible for the information provided by other
|
||
organizations. For information on selection criteria, click <a href="/books/n/gene/app4/">here</a>.</i></p>
|
||
<ul><li class="half_rhythm"><div>
|
||
<b>American Heart Association</b>
|
||
</div><div><b>Phone:</b> 800-242-8721</div><div>
|
||
<a href="https://www.heart.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">heart.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>Sudden Arrhythmia Death Syndromes (SADS) Foundation</b>
|
||
</div><div><b>Phone:</b> 801-948-0654; 801-272-3023</div><div><b>Email:</b> sads@sads.org</div><div>
|
||
<a href="http://www.sads.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">sads.org</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>ARVD/C Patient Registry</b>
|
||
</div><div>The Johns Hopkins Hospital</div><div><b>Phone:</b> 410-502-7161</div><div>
|
||
<a href="https://www.hopkinsmedicine.org/heart_vascular_institute/centers_excellence/arvd/patient_resources.html#patientanchor" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ARVD/C Patient Registry</a>
|
||
</div></li></ul>
|
||
</div><div id="arvd.Chapter_Notes"><h2 id="_arvd_Chapter_Notes_">Chapter Notes</h2><div id="arvd.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>11 May 2023 (sw) Comprehensive update posted live; scope changed to overview</div></li><li class="half_rhythm"><div>25 May 2017 (ha) Comprehensive update posted live</div></li><li class="half_rhythm"><div>9 January 2014 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>12 December 2007 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>18 April 2005 (me) Review posted live</div></li><li class="half_rhythm"><div>6 July 2004 (em) Original submission</div></li></ul></div></div><div id="arvd.References"><h2 id="_arvd_References_">References</h2><div id="arvd.Published_Guidelines__Consensus_Sta"><h3>Published Guidelines / Consensus Statements</h3><ul class="simple-list"><li class="half_rhythm"><div>Al-Khatib SM, Stevenson WG, Ackerman MJ, Bryant WJ, Callans DJ, Curtis AB, Deal BJ, Dickfeld T, Field ME, Fonarow GC, Gillis AM, Granger CB, Hammill SC, Hlatky MA, Joglar JA, Kay GN, Matlock DD, Myerburg RJ, Page RL. 2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. Heart Rhythm. 2018;15:e73-e189. [<a href="https://pubmed.ncbi.nlm.nih.gov/29097319/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PubMed</a>]</div></li><li class="half_rhythm"><div>Corrado D, van Tintelen PJ, McKenna WJ, Hauer RNW, Anastastakis A, Asimaki A, Basso C, Bauce B, Brunckhorst C, Bucciarelli-Ducci C, Duru F, Elliott P, Hamilton RM, Haugaa KH, James CA, Judge D, Link MS, Marchlinski FE, Mazzanti A, Mestroni L, Pantazis A, Pelliccia A, Marra MP, Pilichou K, Platonov PGA, Protonotarios A, Rampazzo A, Saffitz JE, Saguner AM, Schmied C, Sharma S, Tandri H, Te Riele ASJM, Thiene G, Tsatsopoulou A, Zareba W, Zorzi A, Wichter T, Marcus FI, Calkins H; International Experts. Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis. Eur Heart J. 2020;41:1414-29. [<a href="https://pubmed.ncbi.nlm.nih.gov/31637441/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PubMed</a>]</div></li><li class="half_rhythm"><div>Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, Morales A, Taylor MRG, Vatta M, Ware SM. Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline. J Card Fail. 2018;24:281-302. [<a href="https://pubmed.ncbi.nlm.nih.gov/29567486/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PubMed</a>]</div></li><li class="half_rhythm"><div>Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MGPJ, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Safitz JE, Yoeger Sanborn DM, Steinberg JS, Tandri H, Theine G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J. 2010;31:806-14. [<a href="https://pubmed.ncbi.nlm.nih.gov/20172912/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PubMed</a>]</div></li><li class="half_rhythm"><div>Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY, Estes NAM 3rd, Hua W, Indik JH, Ingles J, James CA, John RM, Judge DP, Keegan R, Krahn AD, Link MS, Marcus FI, McLeod CJ, Mestroni L, Priori SG, Saffitz JE, Sanatani S, Shimizu W, van Tintelen JP, Wilde AAM, Zareba W. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm. 2019;16:e301-e372. [<a href="https://pubmed.ncbi.nlm.nih.gov/31078652/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PubMed</a>]</div></li><li class="half_rhythm"><div>Wallace R, Calkins H. Risk stratification in arrhythmogenic right ventricular cardiomyopathy. Arrhythm Electrophysiol Rev. 2021;10:26-32. [<a href="https://pubmed.ncbi.nlm.nih.gov/33936740/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">PubMed</a>]</div></li></ul></div><div id="arvd.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.abicht.2021.637">Abicht
|
||
A, Schön
|
||
U, Laner
|
||
A, Holinski-Feder
|
||
E, Diebold
|
||
I. Actionable secondary findings in arrhythmogenic right ventricle cardiomyopathy genes: impact and challenge of genetic counseling.
|
||
Cardiovasc Diagn Ther.
|
||
2021;11:637-49.
|
||
[<a href="/pmc/articles/PMC8102260/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8102260</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33968641" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33968641</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.akdis.2017.1498">Akdis
|
||
D, Saguner
|
||
AM, Shah
|
||
K, Wei
|
||
C, Medeiros-Domingo
|
||
A, von Eckardstein
|
||
A, Lü-scher
|
||
TF, Brunckhorst
|
||
C, Chen
|
||
HSV, Duru
|
||
F. Sex hormones affect outcome in ar-rhythmogenic right ventricular cardiomyopathy/dysplasia: from a stem cell derived car-diomyocyte-based model to clinical biomarkers of disease outcome.
|
||
Eur Heart J.
|
||
2017;38:1498-508.
|
||
[<a href="/pmc/articles/PMC5837563/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5837563</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28329361" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28329361</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.alkhatib.2018.e73">Al-Khatib
|
||
SM, Stevenson
|
||
WG, Ackerman
|
||
MJ, Bryant
|
||
WJ, Callans
|
||
DJ, Curtis
|
||
AB, Deal
|
||
BJ, Dickfeld
|
||
T, Field
|
||
ME, Fonarow
|
||
GC, Gillis
|
||
AM, Granger
|
||
CB, Hammill
|
||
SC, Hlatky
|
||
MA, Joglar
|
||
JA, Kay
|
||
GN, Matlock
|
||
DD, Myerburg
|
||
RJ, Page
|
||
RL. 2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.
|
||
Heart Rhythm.
|
||
2018;15:e73-e189.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/29097319" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29097319</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.ammirati.2022.714">Ammirati
|
||
E, Raimondi
|
||
F, Piriou
|
||
N, Sardo Infirri
|
||
L, Mohiddin
|
||
SA, Mazzanti
|
||
A, Shenoy
|
||
C, Cavallari
|
||
UA, Imazio
|
||
M, Aquaro
|
||
GD, Olivotto
|
||
I, Pedrotti
|
||
P, Sekhri
|
||
N, Van de Heyning
|
||
CM, Broeckx
|
||
G, Peretto
|
||
G, Guttmann
|
||
O, Dellegrottaglie
|
||
S, Scatteia
|
||
A, Gentile
|
||
P, Merlo
|
||
M, Goldberg
|
||
RI, Reyentovich
|
||
A, Sciamanna
|
||
C, Klaassen
|
||
S, Poller
|
||
W, Trankle
|
||
CR, Abbate
|
||
A, Keren
|
||
A, Horowitz-Cederboim
|
||
S, Cadrin-Tourigny
|
||
J, Tadros
|
||
R, Annoni
|
||
GA, Bonoldi
|
||
E, Toquet
|
||
C, Marteau
|
||
L, Probst
|
||
V, Trochu
|
||
JN, Kissopoulou
|
||
A, Grosu
|
||
A, Kukavica
|
||
D, Trancuccio
|
||
A, Gil
|
||
C, Tini
|
||
G, Pedrazzini
|
||
M, Torchio
|
||
M, Sinagra
|
||
G, Gimeno
|
||
JR, Bernasconi
|
||
D, Valsecchi
|
||
MG, Klingel
|
||
K, Adler
|
||
ED, Camici
|
||
PG, Cooper
|
||
LT
|
||
Jr. Acute myocarditis associated with desmosomal gene variants.
|
||
JACC Heart Fail.
|
||
2022;10:714-27.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/36175056" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36175056</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.bao.2013.552">Bao
|
||
J, Wang
|
||
J, Yao
|
||
Y, Wang
|
||
Y, Fan
|
||
X, Sun
|
||
K, He
|
||
DS, Marcus
|
||
FI, Zhang
|
||
S, Hui
|
||
R, Song
|
||
L. Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy.
|
||
Circ Cardiovasc Genet.
|
||
2013;6:552-6.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/24125834" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24125834</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.baturova.2020.39">Baturova
|
||
MA, Haugaa
|
||
KH, Jensen
|
||
HK, Svensson
|
||
A, Gilljam
|
||
T, Bundgaard
|
||
H, Madsen
|
||
T, Hansen
|
||
J, Chivulescu
|
||
M, Christiansen
|
||
MK, Carlson
|
||
J, Edvardsen
|
||
T, Svendsen
|
||
JH, Platonov
|
||
PG. Atrial fibrillation as a clinical characteristic of arrhythmogenic right ven-tricular cardiomyopathy: experience from the Nordic ARVC Registry.
|
||
Int J Cardiol.
|
||
2020;298:39-43.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/31387820" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31387820</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.bhonsale.2015.847">Bhonsale, A, Groeneweg
|
||
JA, James
|
||
CA, Dooijes
|
||
D, Tichnell
|
||
C, Jongbloed
|
||
JD, Murray
|
||
B, te Riele
|
||
AS, van den Berg
|
||
MP, Bikker
|
||
H, Atsma
|
||
DE, de Groot
|
||
NM, Houweling
|
||
AC, van der Heijden
|
||
JF, Russell
|
||
SD, Doevendans
|
||
PA, van Veen
|
||
TA, Tandri
|
||
H, Wilde
|
||
AA, Judge
|
||
DP, van Tintelen
|
||
JP, Calkins
|
||
H, and Hauer
|
||
RN. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
|
||
Eur Heart J.
|
||
2015;36:847-55.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/25616645" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25616645</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.bourfiss.2022.e003704">Bourfiss
|
||
M, van Vugt
|
||
M, Alasiri
|
||
AI, Ruijsink
|
||
B, van Setten
|
||
J, Schmidt
|
||
AF, Dooijes
|
||
D, Puyol-Antón
|
||
E, Velthuis
|
||
BK, van Tintelen
|
||
JP, Te Riele
|
||
ASJM, Baas
|
||
AF, Asselbergs
|
||
FW. Prevalence and disease expression of pathogenic and likely pathogenic vari-ants associated with inherited cardiomyopathies in the general population.
|
||
Circ Genom Precis Med.
|
||
2022;15:e003704.
|
||
[<a href="/pmc/articles/PMC9770140/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9770140</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/36264615" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36264615</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.brodehl.2021.3786">Brodehl
|
||
A, Meshkov
|
||
A, Myasnikov
|
||
R, Kiseleva
|
||
A, Kulikova
|
||
O, Klauke
|
||
B, Sotnikova
|
||
E, Stanasiuk
|
||
C, Divashuk
|
||
M, Pohl
|
||
GM, Kudryavtseva
|
||
M, Klingel
|
||
K, Gerull
|
||
B, Zharikova
|
||
A, Gummert
|
||
J, Koretskiy
|
||
S, Schubert
|
||
S, Mershina
|
||
E, Gärtner
|
||
A, Pilus
|
||
P, Laser
|
||
KT, Sinitsyn
|
||
V, Boytsov
|
||
S, Drapkina
|
||
O, Milting
|
||
H. Hemi- and homozygous loss-of-function mutations in DSG2 (Desmoglein-2) cause recessive arrhythmogenic cardiomyopathy with an early onset.
|
||
Int J Mol Sci.
|
||
2021;22:3786.
|
||
[<a href="/pmc/articles/PMC8038858/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8038858</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33917638" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33917638</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.chen.2019.263">Chen
|
||
L, Rao
|
||
M, Chen
|
||
X, Chen
|
||
K, Ren
|
||
J, Zhang
|
||
N, Zhao
|
||
Q, Yu
|
||
W, Yuan
|
||
B, Song
|
||
J.
|
||
A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype.
|
||
Int J Cardiol.
|
||
2019;274:263-70.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/30454721" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30454721</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.christensen.2022.858">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. Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure.
|
||
J Med Genet.
|
||
2022;59:858-64.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/34400560" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34400560</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.christiansen.2020.803">Christiansen
|
||
MK, Haugaa
|
||
KH, Svensson
|
||
A, Gilljam
|
||
T, Madsen
|
||
T, Hansent
|
||
J, Holst
|
||
AG, Bundgaard
|
||
H, Edvardsen
|
||
T, Svendsen
|
||
JH, Platonov
|
||
PG, Jensent
|
||
HK. Incidence, predictors and success of ventricular tachycardia catheter ablation in arrhythmogenic right ventricular cardiomyopathy (from the Nordic ARVC registry).
|
||
Am J Cardiol.
|
||
2020;125:803-11.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/31924321" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31924321</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.corrado.2020.106">Corrado
|
||
D, Perazzolo Marra
|
||
M, Zorzi
|
||
A, Beffagna
|
||
G, Cipriani
|
||
A, DeLazzari
|
||
M, Migliore
|
||
F, Pilichou
|
||
K, Rampazzo
|
||
A, Rigato
|
||
I, Rizzo
|
||
S, Thiene
|
||
G, Anastasakis
|
||
A, Asimaki
|
||
A, Bucciarelli-Ducci
|
||
C, Haugaa
|
||
KH, Marchlinski
|
||
FE, Mazzanti
|
||
A, McKenna
|
||
WJ, Pantazis
|
||
A, Pelliccia
|
||
A, Schmied
|
||
C, Sharma
|
||
S, Wichter
|
||
T, Bauce
|
||
B, Basso
|
||
C. Diagnosis of arrhythmogenic cardiomyopathy: the Pauda Criteria.
|
||
Int J Cardiol.
|
||
2020;319:106-114.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/32561223" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32561223</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.corrado.2015.441">Corrado
|
||
D, Wichter
|
||
T, Link
|
||
MS, Hauer
|
||
RN, Marchlinski
|
||
FE, Anastasakis
|
||
A, Bauce
|
||
B, Basso
|
||
C, Brunckhorst
|
||
C, Tsatsopoulou
|
||
A, Tandri
|
||
H, Paul
|
||
M, Schmied
|
||
C, Pelliccia
|
||
A, Duru
|
||
F, Protonotarios
|
||
N, Estes
|
||
NM, 3rd, McKenna
|
||
WJ, Thiene
|
||
G, Marcus
|
||
FI, Calkins
|
||
H. Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia: an international task force consensus statement.
|
||
Circulation.
|
||
2015;132:441-53.
|
||
[<a href="/pmc/articles/PMC4521905/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4521905</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26216213" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26216213</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.daimee.2021.1369">Daimee
|
||
UA, Assis
|
||
FR, Murray
|
||
B, Tichnell
|
||
C, James
|
||
CA, Calkins
|
||
H, Tandri
|
||
H. Clinical outcomes of catheter ablation of ventricular tachycardia in patients with arrhythmogenic right ventricular cardiomyopathy: insights from the Johns Hopkins ARVC Program.
|
||
Heart Rhythm.
|
||
2021;18:1369-76.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/33933674" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33933674</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.dalal.2006.1416">Dalal
|
||
D, James
|
||
C, Devanagondi
|
||
R, Tichnell
|
||
C, Tucker
|
||
A, Prakasa
|
||
K, Spevak
|
||
PJ, Bluemke
|
||
DA, Abraham
|
||
T, Russell
|
||
SD, Calkins
|
||
H, Judge
|
||
DP. Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
|
||
J Am Coll Cardiol
|
||
2006;48:1416-24.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/17010805" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 17010805</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.dellefavecastillo.2022.966">Dellefave-Castillo
|
||
LM, Cirino
|
||
AL, Callis
|
||
TE, Esplin
|
||
ED, Garcia
|
||
J, Hatchell
|
||
KE, Johnson
|
||
B, Morales
|
||
A, Regalado
|
||
E, Rojahn
|
||
S, Vatta
|
||
M, Nussbaum
|
||
RL, McNally
|
||
EM. Assessment of the diagnostic yield of combined cardiomyopathy and arrhythmia genetic testing.
|
||
JAMA Cardiol.
|
||
2022;7:966-74.
|
||
[<a href="/pmc/articles/PMC9366660/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9366660</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35947370" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35947370</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.dominguez.2020.945">Dominguez
|
||
F, Zorio
|
||
E, Jimenez-Jaimez
|
||
J, Salguero-Bodes
|
||
R, Zwart
|
||
R, Gonzalez-Lopez
|
||
E, Molina
|
||
P, Bermúdez-Jiménez
|
||
F, Delgado
|
||
JF, Braza-Boïls
|
||
A, Bornstein
|
||
B, Toquero
|
||
J, Segovia
|
||
J, Van Tintelen
|
||
JP, Lara-Pezzi
|
||
E, Garcia-Pavia
|
||
P. Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.
|
||
Heart Rhythm.
|
||
2020;17:945-54.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/32062046" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32062046</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.etoom.2015.987">Etoom
|
||
Y, Govindapillai
|
||
S, Hamilton
|
||
R, Manlhiot
|
||
C, Yoo
|
||
SJ, Farhan
|
||
M, Sarikouch
|
||
S, Peters
|
||
B, McCrindle
|
||
BW, Grosse-Wortmann
|
||
L. Importance of CMR within the Task Force Criteria for the diagnosis of ARVC in children and adolescents.
|
||
J Am Coll Cardiol.
|
||
2015;65:987-995.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/25766945" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25766945</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.gasperetti.2020.1251">Gasperetti
|
||
A, Dello Russo
|
||
A, Busana
|
||
M, Dessani
|
||
M, Pizzamiglio
|
||
F, Muammer Saguner
|
||
A, Te Riele
|
||
ASJM, Sommariva
|
||
E, Vettor
|
||
G, Bosman
|
||
L, Duru
|
||
F, Zeppilli
|
||
P, Di Biase
|
||
L, Natale
|
||
A, Tondo
|
||
C, Casella
|
||
M. Novel risk calculator performance in athletes with arrhythmogenic right ventricular cardiomyopathy.
|
||
Heart Rhythm.
|
||
2020;17:1251-9.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/32200046" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32200046</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.groeneweg.2015.437">Groeneweg
|
||
JA, Bhonsale
|
||
A, James
|
||
CA, te Riele
|
||
AS, Dooijes
|
||
D, Tichnell
|
||
C, Murray
|
||
B, Wiesfeld
|
||
AC, Sawant
|
||
AC, Kassamali
|
||
B, Atsma
|
||
DE, Volders
|
||
PG, de Groot
|
||
NM, de Boer
|
||
K, Zimmerman
|
||
SL, Kamel
|
||
IR, van der Heijden
|
||
JF, Russell
|
||
SD, Jan Cramer
|
||
M, Tedford
|
||
RJ, Doevendans
|
||
PA, van Veen
|
||
TA, Tandri
|
||
H, Wilde
|
||
AA, Judge
|
||
DP, van Tintelen
|
||
JP, Hauer
|
||
RN, Calkins
|
||
H. Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members.
|
||
Circ Cardiovasc Genet.
|
||
2015;8:437-446.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/25820315" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25820315</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.haggerty.2017.1245">Haggerty
|
||
CM, James
|
||
CA, Calkins
|
||
H, Tichnell
|
||
C, Leader
|
||
JB, Hartzel
|
||
DN, Nevius
|
||
CD, Pendergrass
|
||
SA, Person
|
||
TN, Schwartz
|
||
M, Ritchie
|
||
MD, Carey
|
||
DJ, Ledbetter
|
||
DH, Williams
|
||
MS, Dewey
|
||
FE, Lopez
|
||
A, Penn
|
||
J, Overton
|
||
JD, Reid
|
||
JG, Lebo
|
||
M, Mason-Suares
|
||
H, Austin-Tse
|
||
C, Rehm
|
||
HL, Delisle
|
||
BP, Makowski
|
||
DJ, Mehra
|
||
VC, Murray
|
||
MF, Fornwalt
|
||
BK. Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.
|
||
Genet Med.
|
||
2017;19:1245-52.
|
||
[<a href="/pmc/articles/PMC5671380/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5671380</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28471438" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28471438</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.hall.2018.1312">Hall
|
||
CL, Sutanto
|
||
H, Delageorgou
|
||
C, Mckenna
|
||
WJ, Syrris
|
||
P, Futema
|
||
M. Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.
|
||
Eur J Hum Genet.
|
||
2018;26:1312-8.
|
||
[<a href="/pmc/articles/PMC6117313/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6117313</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29802319" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29802319</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.hamilton.2009.571">Hamilton
|
||
RM, Fidler
|
||
L. Right ventricular cardiomyopathy in the young: an emerging challenge.
|
||
Heart Rhythm.
|
||
2009;6:571-5.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/19324321" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19324321</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.heidenreich.2022.1757">Heidenreich
|
||
PA, Bozkurt
|
||
B, Aguilar
|
||
D, Allen
|
||
LA, Byun
|
||
JJ, Colvin
|
||
MM, Deswal
|
||
A, Drazner
|
||
MH, Dunlay
|
||
SM, Evers
|
||
LR, Fang
|
||
JC, Fedson
|
||
SE, Fonarow
|
||
GC, Hayek
|
||
SS, Hernandez
|
||
AF, Khazanie
|
||
P, Kittleson
|
||
MM, Lee
|
||
CS, Link
|
||
MS, Milano
|
||
CA, Nnacheta
|
||
LC, Sandhu
|
||
AT, Stevenson
|
||
LW, Vardeny
|
||
O, Vest
|
||
AR, Yancy
|
||
CW. 2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: executive summary: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
|
||
J Am Coll Cardiol.
|
||
2022;79:1757-80.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/35379504" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35379504</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.hershberger.2018.281">Hershberger
|
||
RE, Givertz
|
||
MM, Ho
|
||
CY, Judge
|
||
DP, Kantor
|
||
PF, McBride
|
||
KL, Morales
|
||
A, Taylor
|
||
MRG, Vatta
|
||
M, Ware
|
||
SM. Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline.
|
||
J Card Fail.
|
||
2018;24:281-302.
|
||
[<a href="/pmc/articles/PMC9903357/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9903357</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/29567486" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29567486</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.hodes.2016.303">Hodes
|
||
AR, Tichnell
|
||
C, te Riele
|
||
ASJM, Murray
|
||
B, Groeneweg
|
||
JA, Sawant
|
||
AC, Russell
|
||
SD, van Spaindonck-Zwarts
|
||
KY, van den Berg
|
||
MP, Wilde
|
||
AA, Tandri
|
||
H, Judge
|
||
DP, Hauer
|
||
RNW, Calkins
|
||
H, van Tintelen
|
||
JP, James
|
||
CA. Pregnancy course and outcomes in women with arrhythmogenic right ventricular cardiomyopathy.
|
||
Heart.
|
||
2016;102:303-12.
|
||
[<a href="/pmc/articles/PMC4752646/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4752646</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26719359" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26719359</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.huang.2022.389">Huang
|
||
SJ, Amendola
|
||
LM, Sternen
|
||
DL. Variation among DNA banking consent forms: points for clinicians to bank on.
|
||
J Community Genet.
|
||
2022;13:389-97.
|
||
[<a href="/pmc/articles/PMC9314484/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9314484</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35834113" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35834113</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.james.2013.1290">James
|
||
CA, Bhonsale
|
||
A, Tichnell
|
||
C, Murray
|
||
B, Russell
|
||
SD, Tandri
|
||
H, Tedford
|
||
RJ, Judge
|
||
DP, Calkins
|
||
H. Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
|
||
J Am Coll Cardiol.
|
||
2013;62:1290-7.
|
||
[<a href="/pmc/articles/PMC3809992/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3809992</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/23871885" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 23871885</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.james.2021.e003273">James
|
||
CA, Jongbloed
|
||
JDH, Hershberger
|
||
RE, Morales
|
||
A, Judge
|
||
DP, Syrris
|
||
P, Pilichou
|
||
K, Domingo
|
||
AM, Murray
|
||
B, Cadrin-Tourigny
|
||
J, Lekanne Deprez
|
||
R, Celeghin
|
||
R, Pro-tonotarios
|
||
A, Asatryan
|
||
B, Brown
|
||
E, Jordan
|
||
E, McGlaughon
|
||
J, Thaxton
|
||
C, Kurtz
|
||
CL, van Tintelen
|
||
JP. International evidence based reappraisal of genes associated with arrhythmogenic right ventricular cardiomyopathy using the Clinical Genome Resource Framework.
|
||
Circ Genom Precis Med.
|
||
2021;14:e003273.
|
||
[<a href="/pmc/articles/PMC8205996/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8205996</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33831308" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33831308</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.jord_.2022.3041">Jordà
|
||
P, Bosman
|
||
LP, Gasperetti
|
||
A, Mazzanti
|
||
A, Gourraud
|
||
JB, Davies
|
||
B, Frederiksen
|
||
TC, Weidmann
|
||
ZM, Di Marco
|
||
A, Roberts
|
||
JD, MacIntyre
|
||
C, Seifer
|
||
C, Delinière
|
||
A, Alqarawi
|
||
W, Kukavica
|
||
D, Minois
|
||
D, Trancuccio
|
||
A, Arnaud
|
||
M, Targetti
|
||
M, Martino
|
||
A, Oliviero
|
||
G, Pipilas
|
||
DC, Carbucicchio
|
||
C, Compagnucci
|
||
P, Dello Russo
|
||
A, Olivotto
|
||
I, Calò
|
||
L, Lubitz
|
||
SA, Cutler
|
||
MJ, Chevalier
|
||
P, Arbelo
|
||
E, Priori
|
||
SG, Healey
|
||
JS, Calkins
|
||
H, Casella
|
||
M, Jensen
|
||
HK, Tondo
|
||
C, Tadros
|
||
R, James
|
||
CA, Krahn
|
||
AD, Cadrin-Tourigny
|
||
J. Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator.
|
||
Eur Heart J.
|
||
2022;43:3041-52.
|
||
[<a href="/pmc/articles/PMC9392650/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9392650</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35766180" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35766180</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.lazzarini.2015.403">Lazzarini
|
||
E, Jongbloed
|
||
JD, Pilichou
|
||
K, Thiene
|
||
G, Basso
|
||
C, Bikker
|
||
H, Charbon
|
||
B, Swertz
|
||
M, van Tintelen
|
||
JP, van der Zwaag
|
||
PA. The ARVD/C genetic variants database: 2014 update.
|
||
Hum Mutat.
|
||
2015;36:403-10.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/25676813" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25676813</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.lin.2018.837">Lin
|
||
Y, Huang
|
||
J, Zhao
|
||
T, He
|
||
S, Huang
|
||
Z, Chen
|
||
X, Fei
|
||
H, Luo
|
||
H, Liu
|
||
H, Wu
|
||
S, Lin
|
||
X. Compound and heterozygous mutations of DSG2 identified by whole exome sequencing in arrhythmogenic right ventricular cardiomyopathy/dysplasia with ventricular tachycardia.
|
||
J Electrocardiol.
|
||
2018;51:837-43.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/30177324" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30177324</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.lota.2022.1123">Lota
|
||
AS, Hazebroek
|
||
MR, Theotokis
|
||
P, Wassall
|
||
R, Salmi
|
||
S, Halliday
|
||
BP, Tayal
|
||
U, Verdonschot
|
||
J, Meena
|
||
D, Owen
|
||
R, de Marvao
|
||
A, Iacob
|
||
A, Yazdani
|
||
M, Hammersley
|
||
DJ, Jones
|
||
RE, Wage
|
||
R, Buchan
|
||
R, Vivian
|
||
F, Hafouda
|
||
Y, Noseda
|
||
M, Gregson
|
||
J, Mittal
|
||
T, Wong
|
||
J, Robertus
|
||
JL, Baksi
|
||
AJ, Vassiliou
|
||
V, Tzoulaki
|
||
I, Pantazis
|
||
A, Cleland
|
||
JGF, Barton
|
||
PJR, Cook
|
||
SA, Pennell
|
||
DJ, Garcia-Pavia
|
||
P, Cooper
|
||
LT
|
||
Jr, Heymans
|
||
S, Ware
|
||
JS, Prasad
|
||
SK. Genetic architecture of acute myocarditis and the overlap with inherited cardiomyopathy.
|
||
Circulation.
|
||
2022;146:1123-34.
|
||
[<a href="/pmc/articles/PMC9555763/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9555763</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/36154167" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 36154167</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.mahida.2019.536">Mahida
|
||
S, Venlet
|
||
J, Muammer Saguner
|
||
A, Kumar
|
||
S, Baldinger
|
||
SH, AbdelWahab
|
||
A, Tedrow
|
||
UB, Castelletti
|
||
S, Pantazis
|
||
A, John
|
||
RM, McKenna
|
||
WJ, Lambiase
|
||
PD, Duru
|
||
F, Sapp
|
||
JL, Zeppenfield
|
||
K, Stevenson
|
||
WG. Ablation compared with drug therapy for recurrent ventricular tachycardia in arrhythmogenic right ventricular cardiomyopathy: results from a multicenter study.
|
||
Heart Rhythm.
|
||
2019;16:536-43.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/30366162" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30366162</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.marcus.2010.806">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. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria.
|
||
Eur Heart J.
|
||
2010;31:806-14.
|
||
[<a href="/pmc/articles/PMC2848326/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2848326</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/20172912" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20172912</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.mckenna.1994.215">McKenna
|
||
WJ, Thiene
|
||
G, Nava
|
||
A, Fontaliran
|
||
F, Blomstrom-Lundqvist
|
||
C, Fontaine
|
||
G, Camerini
|
||
F. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology.
|
||
Br Heart J.
|
||
1994;71:215-8.
|
||
[<a href="/pmc/articles/PMC483655/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC483655</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/8142187" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 8142187</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.murray.2020">Murray B, Tichnell C, Tandri H, Calkins H, vanTontelen JP, Judge DP, James CA. Influence of panel selection on yield of clinically useful variants in arrhythmogenic right ventricular cardiomyopathy families. Circ Genom Precis Med. 2020;13e003020. [<a href="https://pubmed.ncbi.nlm.nih.gov/32938230" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32938230</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.orgeron.2018.e008782">Orgeron
|
||
GM, Bhonsale
|
||
A, Migliore
|
||
F, James
|
||
CA, Tichnell
|
||
C, Murray
|
||
B, Bertaglia
|
||
E, Cadrin-Tourigny
|
||
J, De Franceschi
|
||
P, Crosson
|
||
J, Tandri
|
||
H, Corrado
|
||
D, Calkins
|
||
H. Subcutaneous implantable cardioverter-defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia: a transatlantic experience.
|
||
J Am Heart Assoc.
|
||
2018;7:e008782.
|
||
[<a href="/pmc/articles/PMC6404172/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6404172</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30608223" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30608223</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.philips.2016.46">Philips
|
||
B, Cheng
|
||
A. 2015 update on the diagnosis and management of arrhythmogenic right ventricular cardiomyopathy.
|
||
Curr Opin Cardiol.
|
||
2016;31:46-56.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/26569086" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26569086</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.platonov.2020.1873">Platonov
|
||
PG, Castrini
|
||
AI, Svensson
|
||
A, Christiansen
|
||
MK, Gilljam
|
||
T, Bundgaard
|
||
H, Madesn
|
||
T, Helio
|
||
T, Christensen
|
||
AH, Astrom
|
||
MA, Carlson
|
||
J, Edvardsen
|
||
T, Jensen
|
||
HK, Huagga
|
||
KH, Svendsen
|
||
JH. Pregnancies, ventricular arrhythmias and substrate progression in women with arrhythmogenic right ventricular cardiomyopathy in the Nordic ARVC Registry.
|
||
Europace
|
||
2020;22:1873-79.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/32681178" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32681178</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.qadri.2017.86">Qadri
|
||
S, Anttonen
|
||
O, Viikilä
|
||
J, Seppälä
|
||
EH, Myllykangas
|
||
S, Alastalo
|
||
TP, Holmström
|
||
M, Heliö
|
||
T, Koskenvuo
|
||
JW. Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.
|
||
BMC Med Genet.
|
||
2017;18:86.
|
||
[<a href="/pmc/articles/PMC5561604/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5561604</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28818065" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28818065</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.richards.2015.405">Richards
|
||
S, Aziz
|
||
N, Bale
|
||
S, Bick
|
||
D, Das
|
||
S, Gastier-Foster
|
||
J, Grody
|
||
WW, Hegde
|
||
M, Lyon
|
||
E, Spector
|
||
E, Voelkerding
|
||
K, Rehm
|
||
HL, et al.
|
||
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
|
||
Genet Med.
|
||
2015;17:405-24.
|
||
[<a href="/pmc/articles/PMC4544753/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4544753</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25741868" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25741868</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.rigato.2013.533">Rigato
|
||
I, Bauce
|
||
B, Rampazzo
|
||
A, Zorzi
|
||
A, Pilichou
|
||
K, Mazzotti
|
||
E, Migliore
|
||
F, Marra
|
||
MP, Lorenzon
|
||
A, De Bortoli
|
||
M, Calore
|
||
M, Nava
|
||
A, Daliento
|
||
L, Gregori
|
||
D, Iliceto
|
||
S, Thiene
|
||
G, Basso
|
||
C, Corrado
|
||
D. Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.
|
||
Circ Cardiovasc Genet.
|
||
2013;6:533-42.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/24070718" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24070718</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.smith.2020.1872">Smith
|
||
ED, Lakdawala
|
||
NK, Papoutsidakis
|
||
N, Aubert
|
||
G, Mazzanti
|
||
A, McCanta
|
||
AC, Agarwal
|
||
PP, Arscott
|
||
P, Dellefave-Castillo
|
||
LM, Vorovich
|
||
EE, Nutakki
|
||
K, Wilsbacher
|
||
LD, Priori
|
||
SG, Jacoby
|
||
DL, McNally
|
||
EM, Helms
|
||
AS. Desmoplakin cardiomyopathy, a fibrotic and inflammatory form of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathy.
|
||
Circulation.
|
||
2020;141:1872-84.
|
||
[<a href="/pmc/articles/PMC7286080/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7286080</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32372669" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32372669</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.steinmetz.2018.1156">Steinmetz
|
||
M, Krause
|
||
U, Lauerer
|
||
P, Konietschke
|
||
F, Aguayo
|
||
R, Ritter
|
||
CO, Schuster
|
||
A, Lotz
|
||
J, Paul
|
||
T, Wieland
|
||
S. Diagnosing ARVC in pediatric patients applying the Revised Task Force Criteria: importance of imaging, 12-lead ECG, and genetics.
|
||
Pediatr Cardiol
|
||
2018;39:1156-64.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/29754204" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 29754204</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.te_riele.2021.750916">Te Riele
|
||
ASJM, James
|
||
C, Calkins
|
||
H, Tsatsopoulou
|
||
A. Arrhythmogenic right ventricular cardiomyopathy in pediatric patients: an important but underrecognized clinical entity.
|
||
Front Pediatr.
|
||
2021;9:750916.
|
||
[<a href="/pmc/articles/PMC8678603/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8678603</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34926342" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34926342</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.thiene.2001.109">Thiene
|
||
G, Basso
|
||
C. Arrhythmogenic right ventricular cardiomyopathy: an update.
|
||
Cardiovasc Pathol.
|
||
2001;10:109-17.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/11485854" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11485854</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.towbin.2019.e301">Towbin
|
||
JA, McKenna
|
||
WJ, Abrams
|
||
DJ, Ackerman
|
||
MJ, Calkins
|
||
H, Darrieux
|
||
FCC, Daubert
|
||
JP, de Chillou
|
||
C, DePasquale
|
||
EC, Desai
|
||
MY, Estes
|
||
NAM
|
||
3rd, Hua
|
||
W, Indik
|
||
JH, Ingles
|
||
J, James
|
||
CA, John
|
||
RM, Judge
|
||
DP, Keegan
|
||
R, Krahn
|
||
AD, Link
|
||
MS, Marcus
|
||
FI, McLeod
|
||
CJ, Mestroni
|
||
L, Priori
|
||
SG, Saffitz
|
||
JE, Sanatani
|
||
S, Shimizu
|
||
W, van Tintelen
|
||
JP, Wilde
|
||
AAM, Zareba
|
||
W. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy.
|
||
Heart Rhythm.
|
||
2019;16:e301-e372.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/31078652" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31078652</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.van_lint.2019.e002467">van Lint
|
||
FHM, Murray
|
||
B, Tichnell
|
||
C, Zwart
|
||
R, Amat
|
||
N, Lekanne Deprez
|
||
RH, Dittmann
|
||
S, Stallmeyer
|
||
B, Calkins
|
||
H, van der Smagt
|
||
JJ, van den Wijngaard
|
||
A, Dooijes
|
||
D, van der Zwaag
|
||
PA, Schulze-Bahr
|
||
E, Judge
|
||
DP, Jongbloed
|
||
JDH, van Tintelen
|
||
JP, James
|
||
CA. Arrhythmogenic right ventricular cardiomyopathy-associated desmosomal variants are rarely de novo.
|
||
Circ Genom Precis Med.
|
||
2019;12:e002467.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/31386562" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31386562</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.van_tintelen.2009.407">van Tintelen
|
||
JP, Wilde
|
||
AA, Jongbloed
|
||
JD. Recurrent and founder mutations in inherited cardiac diseases in the Netherlands.
|
||
Neth Heart J.
|
||
2009;17:407-8.
|
||
[<a href="/pmc/articles/PMC2779475/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2779475</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/19949707" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19949707</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.wallace.2021.26">Wallace
|
||
R, Calkins
|
||
H. Risk stratification in arrhythmogenic right ventricular cardiomyopathy.
|
||
Arrhythm Electrophysiol Rev.
|
||
2021;10:26-32.
|
||
[<a href="/pmc/articles/PMC8076971/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8076971</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33936740" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33936740</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.wichter.2004.1503">Wichter
|
||
T, Paul
|
||
M, Wollmann
|
||
C, Acil
|
||
T, Gerdes
|
||
P, Ashraf
|
||
O, Tjan
|
||
TD, Soeparwata
|
||
R, Block
|
||
M, Borggrefe
|
||
M, Scheld
|
||
HH, Breithardt
|
||
G, Böcker
|
||
D. Implantable cardioverter/defibrillator therapy in arrhythmogenic right ventricular cardiomyopathy: single-center experience of long-term follow-up and complications in 60 patients.
|
||
Circulation.
|
||
2004;109:1503-8.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/15007002" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15007002</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.wilde.2022.e1">Wilde
|
||
AAM, Semsarian
|
||
C, Márquez
|
||
MF, Sepehri Shamloo
|
||
A, Ackerman
|
||
MJ, Ashley
|
||
EA, Sternick
|
||
EB, Barajas-Martinez
|
||
H, Behr
|
||
ER, Bezzina
|
||
CR, Breckpot
|
||
J, Charron
|
||
P, Chockalingam
|
||
P, Crotti
|
||
L, Gollob
|
||
MH, Lubitz
|
||
S, Makita
|
||
N, Ohno
|
||
S, Ortiz-Genga
|
||
M, Sacilotto
|
||
L, Schulze-Bahr
|
||
E, Shimizu
|
||
W, Sotoodehnia
|
||
N, Tadros
|
||
R, Ware
|
||
JS, Winlaw
|
||
DS, Kaufman
|
||
ES; Document Reviewers; Aiba T, Bollmann A, Choi JI, Dalal A, Darrieux F, Giudicessi J, Guerchicoff M, Hong K, Krahn AD, MacIntyre C, Mackall JA, Mont L, Napolitano C, Ochoa JP, Peichl P, Pereira AC, Schwartz PJ, Skinner J, Stellbrink C, Tfelt-Hansen J, Deneke T. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases.
|
||
Heart Rhythm.
|
||
2022;19:e1-e60.
|
||
[<a href="https://pubmed.ncbi.nlm.nih.gov/35390533" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35390533</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.wong.2014.e001407">Wong
|
||
JA, Duff
|
||
HJ, Yuen
|
||
T, Kolman
|
||
L, Exner
|
||
DV, Weeks
|
||
SG, Gerull
|
||
B. Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers.
|
||
J Am Heart Assoc.
|
||
2014;3:e001407.
|
||
[<a href="/pmc/articles/PMC4338736/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4338736</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/25497880" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25497880</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="arvd.REF.xu.2010.587">Xu
|
||
T, Yang
|
||
Z, Vatta
|
||
M, Rampazzo
|
||
A, Beffagna
|
||
G, Pilichou
|
||
K, Scherer
|
||
SE, Saffitz
|
||
J, Kravitz
|
||
J, Zareba
|
||
W, Danieli
|
||
GA, Lorenzon
|
||
A, Nava
|
||
A, Bauce
|
||
B, Thiene
|
||
G, Basso
|
||
C, Calkins
|
||
H, Gear
|
||
K, Marcus
|
||
F, Towbin
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JA. Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.
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J Am Coll Cardiol.
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2010;55:587-97.
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK1131/?report=reader">PubReader</a></li><li><a href="/books/NBK1131/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK1131" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK1131" style="display:none" title="Cite this Page"><div class="bk_tt">McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Cardiomyopathy Overview. 2005 Apr 18 [Updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. 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