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Entry
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- #614021 - VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
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- OMIM
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<p>
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<span class="h4">#614021</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/614021"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS604772"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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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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<li role="presentation">
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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 style="display: table-cell;">External Links</div>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." 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=3525&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/NBK1289/" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=614021[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=3286" 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 style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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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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<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:0060677" 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/614021" 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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<div><a href="https://wormbase.org/resources/disease/DOID:0060677" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</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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</div>
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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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> 3286<br />
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<strong>DO:</strong> 0060677<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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614021
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</span>
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</span>
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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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VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/4/249?start=-3&limit=10&highlight=249">
|
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4q13.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Ventricular tachycardia, catecholaminergic polymorphic, 3
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/614021"> 614021 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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TECRL
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/617242"> 617242 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/614021" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<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')">
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<span class="sr-only">Toggle Dropdown</span>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS604772" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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')">
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<span class="caret"></span>
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<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/614021" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/614021" 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>
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<div>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</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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<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Heart </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
|
|
|
- Polymorphic ventricular tachycardia induced by emotion or physical activity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314747&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314747</a>]</span><br /> -
|
|
Prolonged QT interval (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111975006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111975006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001657</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001657</a>]</span><br /> -
|
|
Syncope <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/272030005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">272030005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271594007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271594007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309585006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309585006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R55</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3541349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3541349</a>, <a href="https://bioportal.bioontology.org/search?q=C0039070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039070</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>]</span><br /> -
|
|
Sudden death <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26636000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26636000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011071</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
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|
|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset at early age, associated with sudden death in childhood<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Ventricular tachycardia, catecholaminergic polymorphic
|
|
- <a href="/phenotypicSeries/PS604772">PS604772</a>
|
|
- 7 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<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>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</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/1/951?start=-3&limit=10&highlight=951"> 1p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611938"> Ventricular tachycardia, catecholaminergic polymorphic, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/611938"> 611938 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114251"> CASQ2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114251"> 114251 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1830?start=-3&limit=10&highlight=1830"> 1q43 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604772"> Ventricular tachycardia, catecholaminergic polymorphic, 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/604772"> 604772 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180902"> RYR2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180902"> 180902 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/249?start=-3&limit=10&highlight=249"> 4q13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614021"> Ventricular tachycardia, catecholaminergic polymorphic, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/614021"> 614021 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617242"> TECRL </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617242"> 617242 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/827?start=-3&limit=10&highlight=827"> 6q22.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615441"> Cardiac arrhythmia syndrome, with or without skeletal muscle weakness </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/615441"> 615441 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603283"> TRDN </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603283"> 603283 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/455?start=-3&limit=10&highlight=455"> 14q32.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614916"> Ventricular tachycardia, catecholaminergic polymorphic, 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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614916"> 614916 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114180"> CALM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114180"> 114180 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/854?start=-3&limit=10&highlight=854"> 19q13.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618782"> ?Ventricular tachycardia, catecholaminergic polymorphic 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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<p>A number sign (#) is used with this entry because of evidence that catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is caused by homozygous or compound heterozygous mutation in the TECRL gene (<a href="/entry/617242">617242</a>) on chromosome 4q13.</p>
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<p>Catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is characterized by overlapping features of long QT syndrome (see <a href="/entry/192500">192500</a>) and CPVT. Affected individuals exhibit adrenergic ventricular tachycardia associated with a high prevalence of cardiac arrest and sudden cardiac death, with recurrent atrial tachycardia sometimes triggering the ventricular arrhythmias. In addition, affected individuals have a normal or mildly prolonged QTc on baseline electrocardiography, with a paradoxical QT increase during adrenergic simulation (summary by <a href="#2" class="mim-tip-reference" title="Devalla, H. D., Gelinas, R., Aburawi, E. H., Beqqali, A., Goyette, P., Freund, C., Chaix, M.-A., Tadros, R., Jiang, H., Le Bechec, A., Monshouwer-Kloots, J. J., Zwetsloot, T., and 17 others. <strong>TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.</strong> EMBO Molec. Med. 8: 1390-1408, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27861123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27861123</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27861123[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/10.15252/emmm.201505719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27861123">Devalla et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27861123" 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>For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see <a href="/entry/604772">604772</a>.</p>
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<p><a href="#1" class="mim-tip-reference" title="Bhuiyan, Z. A., Hamdan, M. A., Shamsi, E. T. A., Postma, A. V., Mannens, M. M. A. M., Wilde, A. A. M., Al-Gazali, L. <strong>A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.</strong> J. Cardiovasc. Electrophysiol. 18: 1060-1066, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17666061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17666061</a>] [<a href="https://doi.org/10.1111/j.1540-8167.2007.00913.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17666061">Bhuiyan et al. (2007)</a> studied a large consanguineous family of Sudanese origin in which 3 sibs died suddenly during physical activity. The first death occurred in a 10-year-old girl who died while playing in a fun park; no evaluation was performed. The second death involved her younger brother, who collapsed at 12 years of age while skating; during resuscitation he was noted to have several episodes of ventricular tachycardia. Electrocardiography (ECG) revealed a mildly prolonged QTc (450 to 490 ms) and premature ventricular contractions (PVCs) with a right bundle branch block (RBBB) morphology and superior axis, indicating a left ventricular origin. ECG showed no structural cardiac anomaly. He remained in a vegetative state until his death from pneumonia 2 years later. The third sib was a younger sister who underwent palliative surgery for tetralogy of Fallot in infancy, at which time ECG revealed a QTc of 440 ms; ECG at 14 months of age showed QTc of 480 to 490 ms. After corrective cardiac surgery at 3 years of age, ECG showed RBBB with QRS duration of 110 ms and QTc of 470 to 490 ms (uncorrected for widened QRS complex). She collapsed and died while playing sports at 8 years of age. A 7-year-old male cousin, also born of consanguineous parents, was the only surviving patient. ECG after a syncopal episode while playing outdoors showed borderline prolonged QTc of 480 ms; echocardiogram was normal. Exercise stress testing revealed isolated PVCs at a heart rate of 144 bpm, with couplets appearing at a heart rate of 170 bpm after exercising for 6 minutes, at which time the test was terminated. He was put on a beta-blocker and restricted from exercise and was still alive at follow-up 18 months later. The parents were all asymptomatic, and the parents of the surviving patient had normal ECGs; 3 asymptomatic sibs of the deceased sibs had no PVCs on 24-hour ECG monitoring. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17666061" 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="Devalla, H. D., Gelinas, R., Aburawi, E. H., Beqqali, A., Goyette, P., Freund, C., Chaix, M.-A., Tadros, R., Jiang, H., Le Bechec, A., Monshouwer-Kloots, J. J., Zwetsloot, T., and 17 others. <strong>TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.</strong> EMBO Molec. Med. 8: 1390-1408, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27861123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27861123</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27861123[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/10.15252/emmm.201505719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27861123">Devalla et al. (2016)</a> studied 2 unrelated French Canadian women who were successfully rescuscitated from cardiac arrest. The first presented with ventricular fibrillation and cardiac arrest while walking at age 22 years, without prior history of syncope or documented arrhythmia. Coronary angiography, echocardiography, and invasive electrophysiologic (EP) testing were normal. Resting ECG showed a normal QT interval, but isoproterenol infusion resulted in QT prolongation. During follow-up the patient had recurrent episodes of exercise- or emotion-induced atrial and ventricular arrhythmias, resulting in multiple shocks from an implantable cardioverter-defibrillator (ICD). In addition, significant repolarization abnormalities with QT prolongation (QTc range, 451-494 ms) were occasionally seen on resting ECGs, and the patient was given a diagnosis of long QT syndrome (LQTS). Family history was negative for sudden cardiac death except for a paternal cousin who died suddenly at age 34 years; no details were available. The second French Canadian woman presented at age 18 with numerous syncopal episodes triggered by emotional stress and documentation of nonsustained ventricular tachycardia (VT) during exercise stress testing. Despite beta-blocker therapy, she experienced aborted cardiac arrest at age 31 years. QTc at rest was 437 ms with repolarization abnormalities. Isoproterenol infusion induced sustained polymorphic VT, and epinephrine challenge resulted in a 57-ms paradoxical QT prolongation with ventricular bigeminy, suggesting a low repolarization reserve consistent with LQTS. During follow-up, the patient had multiple episodes of adrenergic atrial and ventricular arrhythmias, provoked by either exercise or emotion, resulting in numerous ICD shocks. EP mapping revealed an extensive low-voltage area along the interatrial septum, as well as multiple foci of atrial tachycardia that were successfully ablated. Family history was negative for arrhythmias, and the proband's 2 sons were asymptomatic with normal baseline ECGs and 24-hour Holter monitoring. In addition, her father was asymptomatic, with a normal ECG and negative epinephrine test. <a href="#2" class="mim-tip-reference" title="Devalla, H. D., Gelinas, R., Aburawi, E. H., Beqqali, A., Goyette, P., Freund, C., Chaix, M.-A., Tadros, R., Jiang, H., Le Bechec, A., Monshouwer-Kloots, J. J., Zwetsloot, T., and 17 others. <strong>TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.</strong> EMBO Molec. Med. 8: 1390-1408, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27861123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27861123</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27861123[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/10.15252/emmm.201505719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27861123">Devalla et al. (2016)</a> also restudied the consanguineous Sudanese family originally reported by <a href="#1" class="mim-tip-reference" title="Bhuiyan, Z. A., Hamdan, M. A., Shamsi, E. T. A., Postma, A. V., Mannens, M. M. A. M., Wilde, A. A. M., Al-Gazali, L. <strong>A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.</strong> J. Cardiovasc. Electrophysiol. 18: 1060-1066, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17666061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17666061</a>] [<a href="https://doi.org/10.1111/j.1540-8167.2007.00913.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17666061">Bhuiyan et al. (2007)</a>, noting that 7 of 13 children had experienced exertion-induced arrhythmias and/or sudden cardiac death in early childhood; 5 of the 7 children had undergone a fatal arrhythmic episode. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17666061+27861123" 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="Xie, L., Hou, C., Jiang, X., Zhao, J., Li, Y., Xiao, T. <strong>A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.</strong> Europ. J. Med. Genet. 62: 103631, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30790670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30790670</a>] [<a href="https://doi.org/10.1016/j.ejmg.2019.01.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30790670">Xie et al. (2019)</a> reported a 13-year-old boy with features of catecholaminergic polymorphic ventricular tachycardia. He presented with intermittent palpitations and 3 syncopal episodes triggered by emotional stress or exercise within the 4 years before presentation. ECG showed a normal resting time and a normal QT interval. Cardiac computed tomography angiography (CTA) and ECG showed normal structure and function of the heart. He also had normal myocardial enzymes, normal brain MRI, and normal EEG. A 24-hour dynamic electrocardiographic monitoring showed monomorphic premature ventricular contractions and bidirectional or polymorphic paroxysmal ventricular tachycardia. An exercise ECG showed paroxysmal ventricular tachycardia and bidirectional ventricular tachycardia. His parents were unaffected, but his older brother had experienced sudden death at 12 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30790670" 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 a large consanguineous family of Sudanese origin with a history of sudden death following exercise, negative for mutation in 11 genes involved in cardiac electric impulse propagation, including RYR2 (<a href="/entry/180902">180902</a>) and CASQ2 (<a href="/entry/114251">114251</a>), <a href="#1" class="mim-tip-reference" title="Bhuiyan, Z. A., Hamdan, M. A., Shamsi, E. T. A., Postma, A. V., Mannens, M. M. A. M., Wilde, A. A. M., Al-Gazali, L. <strong>A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.</strong> J. Cardiovasc. Electrophysiol. 18: 1060-1066, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17666061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17666061</a>] [<a href="https://doi.org/10.1111/j.1540-8167.2007.00913.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17666061">Bhuiyan et al. (2007)</a> performed whole genome scanning and identified a homozygous region on chromosome 7p22-p14 that was shared by the 2 deceased sibs from whom DNA was available and their affected cousin. Mapping with additional markers revealed a 25-Mb interval flanked by D7S526 distally and D7S481 proximally that showed complete cosegregation with disease. A maximum multipoint lod score of 3.17 was obtained with marker D7S493. No significant sequence alterations were detected in coding exons or exon-intron boundaries of screened candidate genes in that region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17666061" 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="Devalla, H. D., Gelinas, R., Aburawi, E. H., Beqqali, A., Goyette, P., Freund, C., Chaix, M.-A., Tadros, R., Jiang, H., Le Bechec, A., Monshouwer-Kloots, J. J., Zwetsloot, T., and 17 others. <strong>TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.</strong> EMBO Molec. Med. 8: 1390-1408, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27861123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27861123</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27861123[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/10.15252/emmm.201505719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27861123">Devalla et al. (2016)</a> restudied the Sudanese family originally reported by <a href="#1" class="mim-tip-reference" title="Bhuiyan, Z. A., Hamdan, M. A., Shamsi, E. T. A., Postma, A. V., Mannens, M. M. A. M., Wilde, A. A. M., Al-Gazali, L. <strong>A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.</strong> J. Cardiovasc. Electrophysiol. 18: 1060-1066, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17666061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17666061</a>] [<a href="https://doi.org/10.1111/j.1540-8167.2007.00913.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17666061">Bhuiyan et al. (2007)</a> and noted that reanalysis with inclusion of a young family member who was only later identified as affected indicated that the consensus homozygous locus in all affected individuals was on chromosome 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17666061+27861123" 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 a consanguineous Sudanese family with CPVT and QT prolongation, previously studied by <a href="#1" class="mim-tip-reference" title="Bhuiyan, Z. A., Hamdan, M. A., Shamsi, E. T. A., Postma, A. V., Mannens, M. M. A. M., Wilde, A. A. M., Al-Gazali, L. <strong>A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.</strong> J. Cardiovasc. Electrophysiol. 18: 1060-1066, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17666061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17666061</a>] [<a href="https://doi.org/10.1111/j.1540-8167.2007.00913.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17666061">Bhuiyan et al. (2007)</a>, <a href="#2" class="mim-tip-reference" title="Devalla, H. D., Gelinas, R., Aburawi, E. H., Beqqali, A., Goyette, P., Freund, C., Chaix, M.-A., Tadros, R., Jiang, H., Le Bechec, A., Monshouwer-Kloots, J. J., Zwetsloot, T., and 17 others. <strong>TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.</strong> EMBO Molec. Med. 8: 1390-1408, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27861123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27861123</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27861123[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/10.15252/emmm.201505719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27861123">Devalla et al. (2016)</a> performed whole-exome sequencing and identified homozygosity for a splice site mutation in the TECRL gene (<a href="/entry/617242#0001">617242.0001</a>) that segregated fully with disease in the family. By whole-exome sequencing in 2 unrelated French Canadian women with CPVT and prolongation of the QT interval, who were negative for mutation in the 5 genes most commonly associated with LQT, they identified homozygosity for the same missense mutation in TECRL (R196Q; <a href="/entry/617242#0002">617242.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17666061+27861123" 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>In a 13-year-old boy with CPVT3, <a href="#3" class="mim-tip-reference" title="Xie, L., Hou, C., Jiang, X., Zhao, J., Li, Y., Xiao, T. <strong>A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.</strong> Europ. J. Med. Genet. 62: 103631, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30790670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30790670</a>] [<a href="https://doi.org/10.1016/j.ejmg.2019.01.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30790670">Xie et al. (2019)</a> identified compound heterozygous mutations in the TECRL gene: the previously reported R196Q mutation inherited from his unaffected mother and a novel splice site mutation (617242.0003) inherited from his unaffected father. The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing. The proband's older brother had experienced sudden death at 12 years of age but his DNA was not available for testing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30790670" 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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Bhuiyan, Z. A., Hamdan, M. A., Shamsi, E. T. A., Postma, A. V., Mannens, M. M. A. M., Wilde, A. A. M., Al-Gazali, L.
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<strong>A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.</strong>
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J. Cardiovasc. Electrophysiol. 18: 1060-1066, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17666061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17666061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17666061" 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.1540-8167.2007.00913.x" target="_blank">Full Text</a>]
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Devalla, H. D., Gelinas, R., Aburawi, E. H., Beqqali, A., Goyette, P., Freund, C., Chaix, M.-A., Tadros, R., Jiang, H., Le Bechec, A., Monshouwer-Kloots, J. J., Zwetsloot, T., and 17 others.
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<strong>TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.</strong>
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EMBO Molec. Med. 8: 1390-1408, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27861123/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27861123</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27861123[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=27861123" 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/10.15252/emmm.201505719" target="_blank">Full Text</a>]
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Xie, L., Hou, C., Jiang, X., Zhao, J., Li, Y., Xiao, T.
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<strong>A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.</strong>
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Europ. J. Med. Genet. 62: 103631, 2019. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30790670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30790670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30790670" 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.ejmg.2019.01.018" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 02/28/2020
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Marla J. F. O'Neill : 6/2/2011
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carol : 02/28/2020<br>carol : 01/17/2017<br>wwang : 06/02/2011
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VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3; CPVT3
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<strong>ORPHA:</strong> 3286;
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<strong>DO:</strong> 0060677;
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Ventricular tachycardia, catecholaminergic polymorphic, 3
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<p>A number sign (#) is used with this entry because of evidence that catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is caused by homozygous or compound heterozygous mutation in the TECRL gene (617242) on chromosome 4q13.</p>
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<p>Catecholaminergic polymorphic ventricular tachycardia-3 (CPVT3) is characterized by overlapping features of long QT syndrome (see 192500) and CPVT. Affected individuals exhibit adrenergic ventricular tachycardia associated with a high prevalence of cardiac arrest and sudden cardiac death, with recurrent atrial tachycardia sometimes triggering the ventricular arrhythmias. In addition, affected individuals have a normal or mildly prolonged QTc on baseline electrocardiography, with a paradoxical QT increase during adrenergic simulation (summary by Devalla et al., 2016). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CPVT, see 604772.</p>
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<p>Bhuiyan et al. (2007) studied a large consanguineous family of Sudanese origin in which 3 sibs died suddenly during physical activity. The first death occurred in a 10-year-old girl who died while playing in a fun park; no evaluation was performed. The second death involved her younger brother, who collapsed at 12 years of age while skating; during resuscitation he was noted to have several episodes of ventricular tachycardia. Electrocardiography (ECG) revealed a mildly prolonged QTc (450 to 490 ms) and premature ventricular contractions (PVCs) with a right bundle branch block (RBBB) morphology and superior axis, indicating a left ventricular origin. ECG showed no structural cardiac anomaly. He remained in a vegetative state until his death from pneumonia 2 years later. The third sib was a younger sister who underwent palliative surgery for tetralogy of Fallot in infancy, at which time ECG revealed a QTc of 440 ms; ECG at 14 months of age showed QTc of 480 to 490 ms. After corrective cardiac surgery at 3 years of age, ECG showed RBBB with QRS duration of 110 ms and QTc of 470 to 490 ms (uncorrected for widened QRS complex). She collapsed and died while playing sports at 8 years of age. A 7-year-old male cousin, also born of consanguineous parents, was the only surviving patient. ECG after a syncopal episode while playing outdoors showed borderline prolonged QTc of 480 ms; echocardiogram was normal. Exercise stress testing revealed isolated PVCs at a heart rate of 144 bpm, with couplets appearing at a heart rate of 170 bpm after exercising for 6 minutes, at which time the test was terminated. He was put on a beta-blocker and restricted from exercise and was still alive at follow-up 18 months later. The parents were all asymptomatic, and the parents of the surviving patient had normal ECGs; 3 asymptomatic sibs of the deceased sibs had no PVCs on 24-hour ECG monitoring. </p><p>Devalla et al. (2016) studied 2 unrelated French Canadian women who were successfully rescuscitated from cardiac arrest. The first presented with ventricular fibrillation and cardiac arrest while walking at age 22 years, without prior history of syncope or documented arrhythmia. Coronary angiography, echocardiography, and invasive electrophysiologic (EP) testing were normal. Resting ECG showed a normal QT interval, but isoproterenol infusion resulted in QT prolongation. During follow-up the patient had recurrent episodes of exercise- or emotion-induced atrial and ventricular arrhythmias, resulting in multiple shocks from an implantable cardioverter-defibrillator (ICD). In addition, significant repolarization abnormalities with QT prolongation (QTc range, 451-494 ms) were occasionally seen on resting ECGs, and the patient was given a diagnosis of long QT syndrome (LQTS). Family history was negative for sudden cardiac death except for a paternal cousin who died suddenly at age 34 years; no details were available. The second French Canadian woman presented at age 18 with numerous syncopal episodes triggered by emotional stress and documentation of nonsustained ventricular tachycardia (VT) during exercise stress testing. Despite beta-blocker therapy, she experienced aborted cardiac arrest at age 31 years. QTc at rest was 437 ms with repolarization abnormalities. Isoproterenol infusion induced sustained polymorphic VT, and epinephrine challenge resulted in a 57-ms paradoxical QT prolongation with ventricular bigeminy, suggesting a low repolarization reserve consistent with LQTS. During follow-up, the patient had multiple episodes of adrenergic atrial and ventricular arrhythmias, provoked by either exercise or emotion, resulting in numerous ICD shocks. EP mapping revealed an extensive low-voltage area along the interatrial septum, as well as multiple foci of atrial tachycardia that were successfully ablated. Family history was negative for arrhythmias, and the proband's 2 sons were asymptomatic with normal baseline ECGs and 24-hour Holter monitoring. In addition, her father was asymptomatic, with a normal ECG and negative epinephrine test. Devalla et al. (2016) also restudied the consanguineous Sudanese family originally reported by Bhuiyan et al. (2007), noting that 7 of 13 children had experienced exertion-induced arrhythmias and/or sudden cardiac death in early childhood; 5 of the 7 children had undergone a fatal arrhythmic episode. </p><p>Xie et al. (2019) reported a 13-year-old boy with features of catecholaminergic polymorphic ventricular tachycardia. He presented with intermittent palpitations and 3 syncopal episodes triggered by emotional stress or exercise within the 4 years before presentation. ECG showed a normal resting time and a normal QT interval. Cardiac computed tomography angiography (CTA) and ECG showed normal structure and function of the heart. He also had normal myocardial enzymes, normal brain MRI, and normal EEG. A 24-hour dynamic electrocardiographic monitoring showed monomorphic premature ventricular contractions and bidirectional or polymorphic paroxysmal ventricular tachycardia. An exercise ECG showed paroxysmal ventricular tachycardia and bidirectional ventricular tachycardia. His parents were unaffected, but his older brother had experienced sudden death at 12 years of age. </p>
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<strong>Mapping</strong>
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<p>In a large consanguineous family of Sudanese origin with a history of sudden death following exercise, negative for mutation in 11 genes involved in cardiac electric impulse propagation, including RYR2 (180902) and CASQ2 (114251), Bhuiyan et al. (2007) performed whole genome scanning and identified a homozygous region on chromosome 7p22-p14 that was shared by the 2 deceased sibs from whom DNA was available and their affected cousin. Mapping with additional markers revealed a 25-Mb interval flanked by D7S526 distally and D7S481 proximally that showed complete cosegregation with disease. A maximum multipoint lod score of 3.17 was obtained with marker D7S493. No significant sequence alterations were detected in coding exons or exon-intron boundaries of screened candidate genes in that region. </p><p>Devalla et al. (2016) restudied the Sudanese family originally reported by Bhuiyan et al. (2007) and noted that reanalysis with inclusion of a young family member who was only later identified as affected indicated that the consensus homozygous locus in all affected individuals was on chromosome 4. </p>
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<strong>Molecular Genetics</strong>
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<p>In a consanguineous Sudanese family with CPVT and QT prolongation, previously studied by Bhuiyan et al. (2007), Devalla et al. (2016) performed whole-exome sequencing and identified homozygosity for a splice site mutation in the TECRL gene (617242.0001) that segregated fully with disease in the family. By whole-exome sequencing in 2 unrelated French Canadian women with CPVT and prolongation of the QT interval, who were negative for mutation in the 5 genes most commonly associated with LQT, they identified homozygosity for the same missense mutation in TECRL (R196Q; 617242.0002). </p><p>In a 13-year-old boy with CPVT3, Xie et al. (2019) identified compound heterozygous mutations in the TECRL gene: the previously reported R196Q mutation inherited from his unaffected mother and a novel splice site mutation (617242.0003) inherited from his unaffected father. The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing. The proband's older brother had experienced sudden death at 12 years of age but his DNA was not available for testing. </p>
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<strong>REFERENCES</strong>
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Bhuiyan, Z. A., Hamdan, M. A., Shamsi, E. T. A., Postma, A. V., Mannens, M. M. A. M., Wilde, A. A. M., Al-Gazali, L.
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<strong>A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22.</strong>
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J. Cardiovasc. Electrophysiol. 18: 1060-1066, 2007.
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[PubMed: 17666061]
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[Full Text: https://doi.org/10.1111/j.1540-8167.2007.00913.x]
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</p>
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</li>
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<li>
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Devalla, H. D., Gelinas, R., Aburawi, E. H., Beqqali, A., Goyette, P., Freund, C., Chaix, M.-A., Tadros, R., Jiang, H., Le Bechec, A., Monshouwer-Kloots, J. J., Zwetsloot, T., and 17 others.
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<strong>TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.</strong>
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EMBO Molec. Med. 8: 1390-1408, 2016.
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[PubMed: 27861123]
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[Full Text: https://doi.org/10.15252/emmm.201505719]
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Xie, L., Hou, C., Jiang, X., Zhao, J., Li, Y., Xiao, T.
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<strong>A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.</strong>
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Europ. J. Med. Genet. 62: 103631, 2019. Note: Electronic Article.
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[PubMed: 30790670]
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[Full Text: https://doi.org/10.1016/j.ejmg.2019.01.018]
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Contributors:
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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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Sonja A. Rasmussen - updated : 02/28/2020
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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 : 6/2/2011
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carol : 02/29/2020<br>carol : 02/28/2020<br>carol : 01/17/2017<br>wwang : 06/02/2011
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