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<title>
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Entry
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- #604400 - ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
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- OMIM
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<span class="h4">#604400</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/604400"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS107970"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL) OR (TMEM43)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18885&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1131/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7710" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604400[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217656" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110074" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/604400" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 217656<br />
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<strong>DO:</strong> 0110074<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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604400
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 5; ARVC5
|
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</span>
|
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/80?start=-3&limit=10&highlight=80">
|
|
3p25.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Arrhythmogenic right ventricular dysplasia 5
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604400"> 604400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
TMEM43
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612048"> 612048 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
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|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/604400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS107970" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/604400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/604400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Palpitations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80313002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80313002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030252</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span><br /> -
|
|
Presyncope or syncope <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807340</a>]</span><br /> -
|
|
Chest pain (more common in male patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29857009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29857009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R07.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R07.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/786.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008031&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008031</a>, <a href="https://bioportal.bioontology.org/search?q=C2926613&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926613</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100749</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100749</a>]</span><br /> -
|
|
Heart failure (more common in male patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84114007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84114007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a>, <a href="https://bioportal.bioontology.org/search?q=C0018801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018801</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br /> -
|
|
Poor R-wave progression on electrocardiogram <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0877038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0877038</a>]</span><br /> -
|
|
Premature ventricular contractions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251175005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251175005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151636</a>, <a href="https://bioportal.bioontology.org/search?q=C0488307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0488307</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006682" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006682</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006682" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006682</a>]</span><br /> -
|
|
Couplets <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251182009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251182009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0429001&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0429001</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034039</a>]</span><br /> -
|
|
Bigeminy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714585&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714585</a>]</span><br /> -
|
|
Ventricular tachycardia, nonsustained <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/444658006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">444658006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2919575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2919575</a>]</span><br /> -
|
|
QRS greater than 110 ms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807343</a>]</span><br /> -
|
|
Septal Q waves <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3544315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3544315</a>]</span><br /> -
|
|
Left ventricular enlargement <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55827005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55827005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149721&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149721</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001712</a>]</span><br /> -
|
|
Dyskinesia, global or focal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807344&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807344</a>]</span><br /> -
|
|
Right ventricular dilation (more common in male patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253522006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253522006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344893&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344893</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005133</a>]</span><br /> -
|
|
Fractional shortening less than 25% (more common in male patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807346&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807346</a>]</span><br /> -
|
|
Biventricular dilation (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748015</a>]</span><br /> -
|
|
Severe right ventricular atrophy with fibrofatty replacement (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807348&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807348</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Sudden cardiac death frequent in affected families<br /> -
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Male patients have more severe disease than female patients<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the transmembrane protein-43 gene (TMEM43, <a href="/entry/612048#0001">612048.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
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Arrhythmogenic right ventricular dysplasia
|
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- <a href="/phenotypicSeries/PS107970">PS107970</a>
|
|
- 13 Entries
|
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</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
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<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
|
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
|
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</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/837?start=-3&limit=10&highlight=837"> 2q32.1-q32.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602087"> Arrhythmogenic right ventricular dysplasia 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602087"> 602087 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602087"> ARVD4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602087"> 602087 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/80?start=-3&limit=10&highlight=80"> 3p25.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604400"> Arrhythmogenic right ventricular dysplasia 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604400"> 604400 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612048"> TMEM43 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612048"> 612048 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/42?start=-3&limit=10&highlight=42"> 6p24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607450"> Arrhythmogenic right ventricular dysplasia 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607450"> 607450 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125647"> DSP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/125647"> 125647 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/39?start=-3&limit=10&highlight=39"> 10p14-p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604401"> Arrhythmogenic right ventricular dysplasia 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604401"> 604401 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604401"> ARVD6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604401"> 604401 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/234?start=-3&limit=10&highlight=234"> 10q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615616"> Arrhythmogenic right ventricular dysplasia 13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615616"> 615616 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607667"> CTNNA3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607667"> 607667 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/281?start=-3&limit=10&highlight=281"> 12p11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609040"> Arrhythmogenic right ventricular dysplasia 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609040"> 609040 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602861"> PKP2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602861"> 602861 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/109?start=-3&limit=10&highlight=109"> 14q12-q22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602086"> Arrhythmogenic right ventricular dysplasia 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602086"> 602086 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602086"> ARVD3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602086"> 602086 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/405?start=-3&limit=10&highlight=405"> 14q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/107970"> Arrhythmogenic right ventricular dysplasia 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/107970"> 107970 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190230"> TGFB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190230"> 190230 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/555?start=-3&limit=10&highlight=555"> 17q21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611528"> ?Arrhythmogenic right ventricular dysplasia 12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611528"> 611528 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173325"> JUP </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/173325"> 173325 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/111?start=-3&limit=10&highlight=111"> 18q12.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618920"> Arrhythmogenic right ventricular dysplasia 14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618920"> 618920 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114020"> CDH2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/114020"> 114020 </a>
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<p>A number sign (#) is used with this entry because of evidence that familial arrhythmogenic right ventricular dysplasia-5 (ARVD5) is caused by heterozygous mutation in the TMEM43 gene (<a href="/entry/612048">612048</a>) on chromosome 3p25.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of this disorder, see ARVD1 (<a href="/entry/107970">107970</a>).</p>
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<p><a href="#4" class="mim-tip-reference" title="Hodgkinson, K. A., Connors, S. P., Merner, N., Haywood, A., Young, T.-L., McKenna, W. J., Gallagher, B., Curtis, F., Bassett, A. S., Parfrey, P. S. <strong>The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.</strong> Clin. Genet. 83: 321-331, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22725725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22725725</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2012.01919.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22725725">Hodgkinson et al. (2013)</a> reported the phenotype and natural history of 258 affected and 154 unaffected members of 15 Newfoundland families with arrhythmogenic right ventricular dysplasia (ARVD) that were previously studied by <a href="#5" class="mim-tip-reference" title="Merner, N. D., Hodgkinson, K. A., Haywood, A. F. M., Connors, S., French, V. M., Drenckhahn, J.-D., Kupprion, C., Ramadanova, K., Thierfelder, L., McKenna, W., Gallagher, B., Morris-Larkin, L., Bassett, A. S., Parfrey, P. S., Young, T.-L. <strong>Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.</strong> Am. J. Hum. Genet. 82: 809-821, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18313022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18313022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18313022[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.01.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18313022">Merner et al. (2008)</a> and found to carry an S358L mutation in the TMEM43 gene (<a href="/entry/612048#0001">612048.0001</a>; see MOLECULAR GENETICS). Affected males were hospitalized 4 times more often than affected females and died younger; the temporal sequence from symptom onset to death was prolonged in affected females by 1 to 2 decades. The most prevalent electrocardiographic (ECG) manifestation was poor R-wave progression (PRWP), with affected males twice as likely to develop PRWP as affected females. Left ventricular enlargement occurred in 43% of affected individuals, with 11% fulfilling the criteria for dilated cardiomyopathy (CMD; see <a href="/entry/115200">115200</a>). Ventricular ectopy on Holter monitor was common and occurred early; this was the most diagnostically useful clinical test, but no symptom or test could rule out the diagnosis. <a href="#4" class="mim-tip-reference" title="Hodgkinson, K. A., Connors, S. P., Merner, N., Haywood, A., Young, T.-L., McKenna, W. J., Gallagher, B., Curtis, F., Bassett, A. S., Parfrey, P. S. <strong>The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.</strong> Clin. Genet. 83: 321-331, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22725725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22725725</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2012.01919.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22725725">Hodgkinson et al. (2013)</a> concluded that this ARVD subtype is a sex-influenced lethal arrhythmogenic cardiomyopathy, with a unique ECG finding, left ventricular dilation, heart failure, and early death. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18313022+22725725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By linkage analysis in a large North American family, <a href="#1" class="mim-tip-reference" title="Ahmad, F., Li, D., Karibe, A., Gonzalez, O., Tapscott, T., Hill, R., Weilbaecher, D., Blackie, P., Furey, M., Gardner, M., Bachinski, L. L., Roberts, R. <strong>Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23.</strong> Circulation 98: 2791-2795, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9860777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9860777</a>] [<a href="https://doi.org/10.1161/01.cir.98.25.2791" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9860777">Ahmad et al. (1998)</a> identified a novel locus for arrhythmogenic right ventricular dysplasia on 3p23. A peak 2-point lod score of 6.91 was obtained with marker D3S3613 at a recombination fraction of 0.0. Haplotype analysis identified a shared region of 9.3 cM between markers D3S3610 and D3S3659. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9860777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Merner, N. D., Hodgkinson, K. A., Haywood, A. F. M., Connors, S., French, V. M., Drenckhahn, J.-D., Kupprion, C., Ramadanova, K., Thierfelder, L., McKenna, W., Gallagher, B., Morris-Larkin, L., Bassett, A. S., Parfrey, P. S., Young, T.-L. <strong>Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.</strong> Am. J. Hum. Genet. 82: 809-821, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18313022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18313022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18313022[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.01.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18313022">Merner et al. (2008)</a> performed fine mapping and compared haplotypes at chromosome 3p25 across clinically affected individuals from 15 unrelated Newfoundland families with autosomal dominant arrhythmogenic right ventricular dysplasia and narrowed the disease region to a 2.36-Mb interval containing 20 annotated genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18313022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 15 unrelated families from Newfoundland segregating autosomal dominant ARVD mapping to chromosome 3p25, <a href="#5" class="mim-tip-reference" title="Merner, N. D., Hodgkinson, K. A., Haywood, A. F. M., Connors, S., French, V. M., Drenckhahn, J.-D., Kupprion, C., Ramadanova, K., Thierfelder, L., McKenna, W., Gallagher, B., Morris-Larkin, L., Bassett, A. S., Parfrey, P. S., Young, T.-L. <strong>Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.</strong> Am. J. Hum. Genet. 82: 809-821, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18313022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18313022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18313022[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.01.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18313022">Merner et al. (2008)</a> performed bidirectional resequencing of 20 physical candidate ARVD5 genes and identified 1 rare variant, S358L in the TMEM43 gene (<a href="/entry/612048#0001">612048.0001</a>), that was present in all 83 clinically affected individuals tested. The mutation was not found in 47 spouses or in 161 controls, and 35 (57%) of 61 'unaffected' individuals who carried the mutation were found to have clinical signs of ARVD on subsequent testing. Median age to develop an ARVD5-associated phenotype was 32 years for males and 44 years for females; penetrance was 100% in males and females by ages 63 and 76 years, respectively. Survival was significantly reduced in affected individuals, with a median survival of 41 and 71 years in affected males and females, respectively (relative risk, 6.8 times greater in affected males vs females). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18313022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Christensen, A. H., Andersen, C. B., Tybjaerg-Hansen, A., Haunso, S., Svendsen, J. H. <strong>Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.</strong> Clin. Genet. 80: 256-264, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21214875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21214875</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01623.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21214875">Christensen et al. (2011)</a> analyzed the TMEM43 gene in 55 Danish probands who fulfilled the criteria for ARVD and 10 patients with only some features of ARVD, and identified 1 woman with the S358L variant, which was also detected in her affected mother and not found in 650 ethnically matched controls. The proband, who fulfilled criteria for ARVD, was negative for mutation in 6 known ARVD-associated genes and did not show any large genomic rearrangements. Immunostaining of patient myocardium for TMEM43 and plakoglobin (<a href="/entry/173325">173325</a>) showed reduced signals for both compared to controls, suggesting that TMEM43-associated ARVD shares a final common pathway with desmosome-associated ARVD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21214875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Baskin, B., Skinner, J. R., Sanatani, S., Terespolsky, D., Krahn, A. D., Ray, P. N., Scherer, S. W., Hamilton, R. M. <strong>TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.</strong> Hum. Genet. 132: 1245-1252, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812740</a>] [<a href="https://doi.org/10.1007/s00439-013-1323-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812740">Baskin et al. (2013)</a> analyzed DNA samples from 195 unrelated individuals with suspected ARVD for mutations in 4 ARVD-associated desmosomal genes as well as the TMEM43 gene. Twenty-eight patients had disease-causing mutations in DSP (<a href="/entry/125647">125647</a>), PKP2 (<a href="/entry/602861">602861</a>), DSC2 (<a href="/entry/125645">125645</a>), or DSG2 (<a href="/entry/125671">125671</a>). Six patients carried the S358L 'Newfoundland' mutation in TMEM43, including a 43-year-old New Zealand man who was not of Newfoundland descent. In the New Zealand patient, the mutation arose de novo and on a haplotype distinct from that of the Newfoundland patients. In addition, 5 different rare missense variants in the TMEM43 gene were identified (see, e.g., <a href="/entry/612048#0004">612048.0004</a>) in 5 patients, 2 of whom also carried a variant in PKP2 and DSP, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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</h4>
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<a id="1" class="mim-anchor"></a>
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<a id="Ahmad1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ahmad, F., Li, D., Karibe, A., Gonzalez, O., Tapscott, T., Hill, R., Weilbaecher, D., Blackie, P., Furey, M., Gardner, M., Bachinski, L. L., Roberts, R.
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<strong>Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23.</strong>
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Circulation 98: 2791-2795, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9860777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9860777</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9860777" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/01.cir.98.25.2791" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="Baskin2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Baskin, B., Skinner, J. R., Sanatani, S., Terespolsky, D., Krahn, A. D., Ray, P. N., Scherer, S. W., Hamilton, R. M.
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<strong>TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.</strong>
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Hum. Genet. 132: 1245-1252, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812740</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-013-1323-2" target="_blank">Full Text</a>]
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<a id="Christensen2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Christensen, A. H., Andersen, C. B., Tybjaerg-Hansen, A., Haunso, S., Svendsen, J. H.
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<strong>Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.</strong>
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Clin. Genet. 80: 256-264, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21214875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21214875</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21214875" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2011.01623.x" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
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<a id="Hodgkinson2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hodgkinson, K. A., Connors, S. P., Merner, N., Haywood, A., Young, T.-L., McKenna, W. J., Gallagher, B., Curtis, F., Bassett, A. S., Parfrey, P. S.
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<strong>The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.</strong>
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Clin. Genet. 83: 321-331, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22725725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22725725</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22725725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2012.01919.x" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Merner2008" class="mim-anchor"></a>
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<div class="">
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Merner, N. D., Hodgkinson, K. A., Haywood, A. F. M., Connors, S., French, V. M., Drenckhahn, J.-D., Kupprion, C., Ramadanova, K., Thierfelder, L., McKenna, W., Gallagher, B., Morris-Larkin, L., Bassett, A. S., Parfrey, P. S., Young, T.-L.
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<strong>Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.</strong>
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Am. J. Hum. Genet. 82: 809-821, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18313022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18313022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18313022[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18313022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2008.01.010" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/27/2013
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Marla J. F. O'Neill - updated : 5/9/2013<br>Marla J. F. O'Neill - updated : 5/15/2008<br>Victor A. McKusick - updated : 1/23/2004
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Creation Date:
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Victor A. McKusick : 1/4/2000
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carol : 12/02/2013
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mcolton : 11/27/2013<br>carol : 5/9/2013<br>carol : 5/15/2008<br>mgross : 3/18/2004<br>alopez : 2/18/2004<br>alopez : 1/23/2004<br>terry : 1/23/2004<br>mgross : 1/5/2000<br>mgross : 1/4/2000
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<strong>#</strong> 604400
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ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5; ARVD5
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ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 5; ARVC5
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<strong>ORPHA:</strong> 217656;
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<strong>DO:</strong> 0110074;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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3p25.1
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Arrhythmogenic right ventricular dysplasia 5
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604400
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<span class="mim-font">
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Autosomal dominant
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3
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TMEM43
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<span class="mim-font">
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612048
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<p>A number sign (#) is used with this entry because of evidence that familial arrhythmogenic right ventricular dysplasia-5 (ARVD5) is caused by heterozygous mutation in the TMEM43 gene (612048) on chromosome 3p25.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of this disorder, see ARVD1 (107970).</p>
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<strong>Clinical Features</strong>
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<p>Hodgkinson et al. (2013) reported the phenotype and natural history of 258 affected and 154 unaffected members of 15 Newfoundland families with arrhythmogenic right ventricular dysplasia (ARVD) that were previously studied by Merner et al. (2008) and found to carry an S358L mutation in the TMEM43 gene (612048.0001; see MOLECULAR GENETICS). Affected males were hospitalized 4 times more often than affected females and died younger; the temporal sequence from symptom onset to death was prolonged in affected females by 1 to 2 decades. The most prevalent electrocardiographic (ECG) manifestation was poor R-wave progression (PRWP), with affected males twice as likely to develop PRWP as affected females. Left ventricular enlargement occurred in 43% of affected individuals, with 11% fulfilling the criteria for dilated cardiomyopathy (CMD; see 115200). Ventricular ectopy on Holter monitor was common and occurred early; this was the most diagnostically useful clinical test, but no symptom or test could rule out the diagnosis. Hodgkinson et al. (2013) concluded that this ARVD subtype is a sex-influenced lethal arrhythmogenic cardiomyopathy, with a unique ECG finding, left ventricular dilation, heart failure, and early death. </p>
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<strong>Mapping</strong>
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<p>By linkage analysis in a large North American family, Ahmad et al. (1998) identified a novel locus for arrhythmogenic right ventricular dysplasia on 3p23. A peak 2-point lod score of 6.91 was obtained with marker D3S3613 at a recombination fraction of 0.0. Haplotype analysis identified a shared region of 9.3 cM between markers D3S3610 and D3S3659. </p><p>Merner et al. (2008) performed fine mapping and compared haplotypes at chromosome 3p25 across clinically affected individuals from 15 unrelated Newfoundland families with autosomal dominant arrhythmogenic right ventricular dysplasia and narrowed the disease region to a 2.36-Mb interval containing 20 annotated genes. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In 15 unrelated families from Newfoundland segregating autosomal dominant ARVD mapping to chromosome 3p25, Merner et al. (2008) performed bidirectional resequencing of 20 physical candidate ARVD5 genes and identified 1 rare variant, S358L in the TMEM43 gene (612048.0001), that was present in all 83 clinically affected individuals tested. The mutation was not found in 47 spouses or in 161 controls, and 35 (57%) of 61 'unaffected' individuals who carried the mutation were found to have clinical signs of ARVD on subsequent testing. Median age to develop an ARVD5-associated phenotype was 32 years for males and 44 years for females; penetrance was 100% in males and females by ages 63 and 76 years, respectively. Survival was significantly reduced in affected individuals, with a median survival of 41 and 71 years in affected males and females, respectively (relative risk, 6.8 times greater in affected males vs females). </p><p>Christensen et al. (2011) analyzed the TMEM43 gene in 55 Danish probands who fulfilled the criteria for ARVD and 10 patients with only some features of ARVD, and identified 1 woman with the S358L variant, which was also detected in her affected mother and not found in 650 ethnically matched controls. The proband, who fulfilled criteria for ARVD, was negative for mutation in 6 known ARVD-associated genes and did not show any large genomic rearrangements. Immunostaining of patient myocardium for TMEM43 and plakoglobin (173325) showed reduced signals for both compared to controls, suggesting that TMEM43-associated ARVD shares a final common pathway with desmosome-associated ARVD. </p><p>Baskin et al. (2013) analyzed DNA samples from 195 unrelated individuals with suspected ARVD for mutations in 4 ARVD-associated desmosomal genes as well as the TMEM43 gene. Twenty-eight patients had disease-causing mutations in DSP (125647), PKP2 (602861), DSC2 (125645), or DSG2 (125671). Six patients carried the S358L 'Newfoundland' mutation in TMEM43, including a 43-year-old New Zealand man who was not of Newfoundland descent. In the New Zealand patient, the mutation arose de novo and on a haplotype distinct from that of the Newfoundland patients. In addition, 5 different rare missense variants in the TMEM43 gene were identified (see, e.g., 612048.0004) in 5 patients, 2 of whom also carried a variant in PKP2 and DSP, respectively. </p>
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<strong>REFERENCES</strong>
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Ahmad, F., Li, D., Karibe, A., Gonzalez, O., Tapscott, T., Hill, R., Weilbaecher, D., Blackie, P., Furey, M., Gardner, M., Bachinski, L. L., Roberts, R.
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<strong>Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23.</strong>
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Circulation 98: 2791-2795, 1998.
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[PubMed: 9860777]
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[Full Text: https://doi.org/10.1161/01.cir.98.25.2791]
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Baskin, B., Skinner, J. R., Sanatani, S., Terespolsky, D., Krahn, A. D., Ray, P. N., Scherer, S. W., Hamilton, R. M.
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<strong>TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.</strong>
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Hum. Genet. 132: 1245-1252, 2013.
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[PubMed: 23812740]
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[Full Text: https://doi.org/10.1007/s00439-013-1323-2]
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Christensen, A. H., Andersen, C. B., Tybjaerg-Hansen, A., Haunso, S., Svendsen, J. H.
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<strong>Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.</strong>
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Clin. Genet. 80: 256-264, 2011.
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[PubMed: 21214875]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2011.01623.x]
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Hodgkinson, K. A., Connors, S. P., Merner, N., Haywood, A., Young, T.-L., McKenna, W. J., Gallagher, B., Curtis, F., Bassett, A. S., Parfrey, P. S.
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<strong>The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.</strong>
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Clin. Genet. 83: 321-331, 2013.
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[PubMed: 22725725]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2012.01919.x]
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Merner, N. D., Hodgkinson, K. A., Haywood, A. F. M., Connors, S., French, V. M., Drenckhahn, J.-D., Kupprion, C., Ramadanova, K., Thierfelder, L., McKenna, W., Gallagher, B., Morris-Larkin, L., Bassett, A. S., Parfrey, P. S., Young, T.-L.
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<strong>Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.</strong>
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Am. J. Hum. Genet. 82: 809-821, 2008.
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[PubMed: 18313022]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.01.010]
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Marla J. F. O'Neill - updated : 11/27/2013<br>Marla J. F. O'Neill - updated : 5/9/2013<br>Marla J. F. O'Neill - updated : 5/15/2008<br>Victor A. McKusick - updated : 1/23/2004
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Victor A. McKusick : 1/4/2000
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