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- #604772 - VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1
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<span class="h4">#604772</span>
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<br />
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<strong>Table of Contents</strong>
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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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<a href="/clinicalSynopsis/604772"><strong>Clinical Synopsis</strong></a>
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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="#inheritance">Inheritance</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="#cytogenetics">Cytogenetics</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#seeAlso"><strong>See Also</strong></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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</a>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY" 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.diseaseinfosearch.org/x/5841" 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://medlineplus.gov/genetics/gene/ryr2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604772[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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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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</span>
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</span>
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</div>
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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:0060675" 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/604772" 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:0060675" 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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<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> 3286<br />
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<strong>DO:</strong> 0060675<br />
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">ICD+</a>
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</div>
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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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604772
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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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|
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VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1
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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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VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1; VTSIP1<br />
|
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VTSIP
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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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</div>
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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">
|
|
<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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<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/1/1830?start=-3&limit=10&highlight=1830">
|
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1q43
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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, 1
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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/604772"> 604772 </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">
|
|
RYR2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180902"> 180902 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
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|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/604772" 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/PS604772" 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/604772" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/604772" 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>
|
|
<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">
|
|
|
|
- Polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4025298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4025298</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004758</a>]</span><br /> -
|
|
Premature ventricular complexes <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> 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 /> -
|
|
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 /> -
|
|
Sinoatrial node dysfunction (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60423000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60423000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0428908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0428908</a>]</span><br /> -
|
|
Atrioventricular node dysfunction (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276314&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276314</a>]</span><br /> -
|
|
Atrial fibrillation (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49436004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49436004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164889003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164889003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2926591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926591</a>, <a href="https://bioportal.bioontology.org/search?q=C0004238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004238</a>, <a href="https://bioportal.bioontology.org/search?q=C0344434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344434</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span><br /> -
|
|
Atrial standstill (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/450919004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">450919004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5609005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5609005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541782&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541782</a>, <a href="https://bioportal.bioontology.org/search?q=C1838539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838539</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025478" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025478</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025478" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025478</a>]</span><br /> -
|
|
Left ventricular dysfunction (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275514001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275514001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242698&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242698</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005162</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005162</a>]</span><br /> -
|
|
Left ventricular dilation (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3152138&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3152138</a>]</span><br /> -
|
|
Localized hypokinesia and dyskinesia at right ventricular apex and subtricuspid area (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563016&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563016</a>]</span><br /> -
|
|
Segmental fibrofatty replacement at right ventricular apex (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5563017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5563017</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br />
|
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|
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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> MOLECULAR BASIS </strong>
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- Caused by mutation in the ryanodine receptor-2 gene (RYR2, <a href="/entry/180902#0001">180902.0001</a>)<br />
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<h5>
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Ventricular tachycardia, catecholaminergic polymorphic
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- <a href="/phenotypicSeries/PS604772">PS604772</a>
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- 7 Entries
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</h5>
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
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<a href="/geneMap/1/951?start=-3&limit=10&highlight=951"> 1p13.1 </a>
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<span class="mim-font">
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<a href="/entry/611938"> Ventricular tachycardia, catecholaminergic polymorphic, 2 </a>
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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 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 class="mim-font">
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<a href="/entry/611938"> 611938 </a>
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<span class="mim-font">
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<a href="/entry/114251"> CASQ2 </a>
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<span class="mim-font">
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<a href="/entry/114251"> 114251 </a>
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<span class="mim-font">
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<a href="/geneMap/1/1830?start=-3&limit=10&highlight=1830"> 1q43 </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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<a href="/entry/604772"> Ventricular tachycardia, catecholaminergic polymorphic, 1 </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 dominant">AD</abbr>
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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 class="mim-font">
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<a href="/entry/604772"> 604772 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/180902"> RYR2 </a>
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<span class="mim-font">
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<a href="/entry/180902"> 180902 </a>
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<span class="mim-font">
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<a href="/geneMap/4/249?start=-3&limit=10&highlight=249"> 4q13.1 </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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<a href="/entry/614021"> Ventricular tachycardia, catecholaminergic polymorphic, 3 </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 class="mim-font">
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<a href="/entry/614021"> 614021 </a>
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<span class="mim-font">
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<a href="/entry/617242"> TECRL </a>
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<span class="mim-font">
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<a href="/entry/617242"> 617242 </a>
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<span class="mim-font">
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<a href="/geneMap/6/827?start=-3&limit=10&highlight=827"> 6q22.31 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/615441"> Cardiac arrhythmia syndrome, with or without skeletal muscle weakness </a>
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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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<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 class="mim-font">
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<a href="/entry/615441"> 615441 </a>
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<span class="mim-font">
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<a href="/entry/603283"> TRDN </a>
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<td>
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<span class="mim-font">
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<a href="/entry/603283"> 603283 </a>
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<td>
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<span class="mim-font">
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<a href="/geneMap/14/455?start=-3&limit=10&highlight=455"> 14q32.11 </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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<a href="/entry/614916"> Ventricular tachycardia, catecholaminergic polymorphic, 4 </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 dominant">AD</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 class="mim-font">
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<a href="/entry/614916"> 614916 </a>
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<td>
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<span class="mim-font">
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<a href="/entry/114180"> CALM1 </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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<a href="/entry/114180"> 114180 </a>
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<a href="/geneMap/19/854?start=-3&limit=10&highlight=854"> 19q13.32 </a>
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</span>
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<span class="mim-font">
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<a href="/entry/618782"> Long QT syndrome 16 </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 dominant">AD</abbr>
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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 class="mim-font">
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<a href="/entry/618782"> 618782 </a>
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<span class="mim-font">
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<a href="/entry/114183"> CALM3 </a>
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<span class="mim-font">
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<a href="/entry/114183"> 114183 </a>
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<a href="/geneMap/19/854?start=-3&limit=10&highlight=854"> 19q13.32 </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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<a href="/entry/618782"> ?Ventricular tachycardia, catecholaminergic polymorphic 6 </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 dominant">AD</abbr>
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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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<span class="mim-font">
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<a href="/entry/618782"> 618782 </a>
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</span>
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<td>
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<span class="mim-font">
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<a href="/entry/114183"> CALM3 </a>
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<span class="mim-font">
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<a href="/entry/114183"> 114183 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that catecholaminergic polymorphic ventricular tachycardia-1 (CPVT1) is caused by heterozygous mutation in the cardiac ryanodine receptor gene (RYR2; <a href="/entry/180902">180902</a>) on chromosome 1q43.</p><p>A homozygous 344-kb tandem duplication involving the 5-prime UTR/promoter region and exons 1 through 4 of the RYR2 gene has been reported in 2 Amish families with a phenotype consistent with CPVT1; see CLINICAL FEATURES and CYTOGENETICS.</p>
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<br />
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<strong>Description</strong>
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<p>Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder of the heart characterized by a reproducible form of polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion, which can deteriorate into ventricular fibrillation. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. Typically, clinical cardiologic examinations, such as baseline ECG and echocardiogram, reveal mostly normal findings, and postmortem examinations, when carried out, have not disclosed any significant morphologic alterations in the fine structure of the heart, with the exception of mild fatty myocardial infiltration in a few patients. The hallmark of CPVT comprises ventricular arrhythmias of varying morphology not present under resting conditions but appearing only with physical exercise, excitement, or catecholamine administration. These arrhythmias are first seen as ventricular premature complexes, later in bigeminy, followed by bidirectional or polymorphic ventricular tachycardia, which eventually leads to ventricular fibrillation. CPVT can be inherited as an autosomal dominant or recessive trait. Clinical penetrance in this disease ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years. Beta-blockers without sympathomimetic activity are clinically effective in the reduction of syncope, but implantation of an automatic internal defibrillator is occasionally needed in these patients (summary by <a href="#2" class="mim-tip-reference" title="Bhuiyan, Z. A., van den Berg, M. P., van Tintelen, J. P., Bink-Boelkens, M. T. E., Wiesfeld, A. C. P., Alders, M., Postma, A. V., van Langen, I., Mannens, M. M. A. M., Wilde, A. A. M. <strong>Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.</strong> Circulation 116: 1569-1576, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17875969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17875969</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.711606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17875969">Bhuiyan et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17875969" 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><strong><em>Genetic Heterogeneity of Catecholaminergic Polymorphic Ventricular Tachycardia</em></strong></p><p>
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Also see CPVT2 (<a href="/entry/611938">611938</a>), caused by mutation in the CASQ2 gene (<a href="/entry/114251">114251</a>) on chromosome 1p13; CPVT3 (<a href="/entry/614021">614021</a>), caused by mutation in the TECRL gene (<a href="/entry/617242">617242</a>) on chromosome 4q13; CPVT4 (<a href="/entry/614916">614916</a>), caused by mutation in the CALM1 gene (<a href="/entry/114180">114180</a>) on chromosome 14q32; CPVT5 (<a href="/entry/615441">615441</a>) is caused by mutation in the TRDN gene (<a href="/entry/603283">603283</a>) on chromosome 6q22; and CPVT6 (see <a href="/entry/618782">618782</a>) is caused by mutation in the CALM3 gene (<a href="/entry/114183">114183</a>) on chromosome 19q13.</p>
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<strong>Clinical Features</strong>
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<p>Catecholaminergic polymorphic ventricular tachycardia (CPVT) occurring in the structurally intact heart was described by <a href="#3" class="mim-tip-reference" title="Coumel, P., Fidelle, J., Lucet, V., Attuel, P., Bouvrain, Y. <strong>Catecholaminergic-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases.</strong> Brit. Heart J. 40 (suppl.): 28-37, 1978."None>Coumel et al. (1978)</a> and by <a href="#6" class="mim-tip-reference" title="Leenhardt, A., Lucet, V., Denjoy, I., Grau, F., Ngoc, D. D., Coumel, P. <strong>Catecholaminergic polymorphic ventricular tachycardia in children: a 7-year follow-up of 21 patients.</strong> Circulation 91: 1512-1519, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7867192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7867192</a>] [<a href="https://doi.org/10.1161/01.cir.91.5.1512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7867192">Leenhardt et al. (1995)</a> as a distinct clinical entity with manifestations in childhood and adolescence. Affected individuals present with syncopal events and with a distinctive pattern of highly reproducible, stress-related, bidirectional ventricular tachycardia in the absence of both structural heart disease and a prolonged QT interval. A family history of juvenile sudden death and stress-induced syncope is present in approximately one-third of cases. <a href="#13" class="mim-tip-reference" title="Swan, H., Piippo, K., Viitasalo, M., Heikkila, P., Paavonen, T., Kainulainen, K., Kere, J., Keto, P., Kontula, K., Toivonen, L. <strong>Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts.</strong> J. Am. Coll. Cardiol. 34: 2035-2042, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10588221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10588221</a>] [<a href="https://doi.org/10.1016/s0735-1097(99)00461-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10588221">Swan et al. (1999)</a> described 2 unrelated Finnish families with an autosomal dominant cardiac syndrome causing stress-induced polymorphic ventricular tachycardia and syncope in the absence of structural myocardial changes (see <a href="/entry/192605">192605</a>). Of 24 affected individuals, 10 had succumbed, including 6 cases of sudden death; the 14 survivors showed evidence of the disease. Exercise stress test induced ventricular bigeminy or polymorphic ventricular tachycardia in affected individuals. Three children initially examined before 10 years of age developed arrhythmias during a 4-year follow-up. Administration of flecainide did not induce electrocardiographic abnormalities of the type seen in familial idiopathic ventricular fibrillation (<a href="/entry/603829">603829</a>). The cumulative cardiac mortality by the age of 30 years was 31%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10588221+7867192" 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="#9" class="mim-tip-reference" title="Priori, S. G., Napolitano, C., Memmi, M., Colombi, B., Drago, F., Gasparini, M., DeSimone, L., Coltorti, F., Bloise, R., Keegan, R., Cruz Filho, F. E. S., Vignati, G., Benatar, A., DeLogu, A. <strong>Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.</strong> Circulation 106: 69-74, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12093772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12093772</a>] [<a href="https://doi.org/10.1161/01.cir.0000020013.73106.d8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12093772">Priori et al. (2002)</a> studied 30 probands with CPVT, 14 of whom were known to have a mutation in the RYR2 gene. Nine family members were identified as RYR2 mutation carriers, 5 of whom had exercise-induced arrhythmias at clinical evaluation and 4 of whom were phenotypically silent (incomplete penetrance). Syncope occurred in 26 of 30 probands and was the first sign of disease in 16 probands. Age at first manifestation extended into adulthood (7 of 30 probands); the authors suggested that the diagnosis of CPVT should include individuals of any age with adrenergically mediated asymptomatic ventricular tachycardia occurring in a structurally intact heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12093772" 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="#12" class="mim-tip-reference" title="Scoote, M., Williams, A. J. <strong>Myocardial calcium signalling and arrhythmia pathogenesis.</strong> Biochem. Biophys. Res. Commun. 322: 1286-1309, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15336976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15336976</a>] [<a href="https://doi.org/10.1016/j.bbrc.2004.08.034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15336976">Scoote and Williams (2004)</a> reviewed defects in cardiomyocyte calcium homeostasis and the associated arrhythmias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15336976" 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="Bhuiyan, Z. A., van den Berg, M. P., van Tintelen, J. P., Bink-Boelkens, M. T. E., Wiesfeld, A. C. P., Alders, M., Postma, A. V., van Langen, I., Mannens, M. M. A. M., Wilde, A. A. M. <strong>Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.</strong> Circulation 116: 1569-1576, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17875969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17875969</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.711606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17875969">Bhuiyan et al. (2007)</a> studied 2 families with CPVT in which, in addition to exercise-induced ventricular arrhythmias, affected individuals exhibited abnormalities in sinoatrial and atrioventricular node function, atrial fibrillation, and atrial standstill. Several affected individuals also developed left ventricular dysfunction and dilation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17875969" 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="#14" class="mim-tip-reference" title="Tester, D. J., Bombei, H. M., Fitzgerald, K. K., Giudicessi, J. R., Pitel, B. A., Thorland, E. C., Russell, B. G., Hamrick, S. K., Kim, C. S. J., Haglund-Turnquist, C. M., Johnsrude, C. L., Atkins, D. L., Ochoa Nunez, L. A., Law, I., Temple, J., Ackerman, M. J. <strong>Identification of a novel homozygous multi-exon duplication in RYR2 among children with exertion-related unexplained sudden deaths in the Amish community.</strong> JAMA Cardiol. 5: 13-18, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31913406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31913406</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31913406[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/10.1001/jamacardio.2019.5400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31913406">Tester et al. (2020)</a> reported 2 large multiply consanguineous Amish families in which a phenotype consistent with CPVT1 segregated with homozygosity for a large tandem duplication involving 26,000 basepairs of intergenic sequence, the RYR2 5-prime UTR/promoter region, and exons 1 through 4 of the RYR2 gene (see CYTOGENETICS). Multiple young members experienced exercise-associated syncope, cardiac arrest, and/or sudden unexplained death. The proband of family 1, who had a normal electrocardiogram (ECG) and exercise stress test after an episode of exercise-associated syncope, died suddenly several years later at age 12 during physical exertion. She had 3 sisters who also experienced exercise-associated sudden cardiac death, at 10, 9, and 3 years of age. In another branch of the extended family, 3 sisters were affected, including 1 who died during her second cardiac arrest at age 4 years. Another sister survived documented ventricular fibrillation and cardiac arrest while swimming; follow-up evaluation showed normal echocardiogram and serial ECGs, whereas exercise stress testing revealed monomorphic ventricular ectopy that was accentuated with low-level exercise but attenuated with increasing heart rates and exertion. The third sister experienced syncope while swimming, despite having had a normal exercise stress test a few weeks before. Family 2 had more than 250 members, of whom 15 experienced exercise-associated sudden death at a young age (mean age at death, 11.7 years). In one family branch, 3 brothers and 1 sister were affected, and 1 of the brothers died at age 11 years; in another branch, 2 sisters were affected, 1 of whom died at age 6 years. A survivor of SCA in family 2 with an implantable cardioverter/defibrillator experienced 3 appropriate ventricular tachycardia/ventricular fibrillation-terminating shocks. Review of device tracings revealed premature ventricular contractions with a short coupling interval and R-on-T phenomena that triggered torsades de pointes and soon degenerated into ventricular fibrillation. The authors noted that the phenotype did not appear to be distinct from autosomal dominant RYR2-mediated CPVT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31913406" 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><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#11" class="mim-tip-reference" title="Rampazzo, A., Nava, A., Erne, P., Eberhard, M., Vian, E., Slomp, P., Tiso, N., Thiene, G., Danieli, G. A. <strong>A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43.</strong> Hum. Molec. Genet. 4: 2151-2154, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589694</a>] [<a href="https://doi.org/10.1093/hmg/4.11.2151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8589694">Rampazzo et al. (1995)</a> performed studies in a large 4-generation Italian family with what they designated as a 'concealed' form of arrhythmogenic right ventricular dysplasia (ARVD; see <a href="/entry/107970">107970</a>) mapping to 1q43; affected members showed no change in heart size and had normal standard ECG and functional capacity, but consistently showed effort-induced polymorphic ventricular tachycardias. Juvenile sudden death had occurred in 4 members. Postmortem examination of 2 of these subjects showed a right ventricle of normal size, with no overt abnormalities. However, large areas of fatty-fibrous replacement, mostly localized in the subepicardial layer of the right ventricle, were demonstrated histologically. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589694" 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="#1" class="mim-tip-reference" title="Bauce, B., Nava, A., Rampazzo, A., Daliento, L., Muriago, M., Basso, C., Thiene, G., Danieli, G. A. <strong>Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-q43.</strong> Am. J. Cardiol. 85: 573-579, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11078270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11078270</a>] [<a href="https://doi.org/10.1016/s0002-9149(99)00814-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11078270">Bauce et al. (2000)</a> restudied the large Italian family (family 102) originally described by <a href="#11" class="mim-tip-reference" title="Rampazzo, A., Nava, A., Erne, P., Eberhard, M., Vian, E., Slomp, P., Tiso, N., Thiene, G., Danieli, G. A. <strong>A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43.</strong> Hum. Molec. Genet. 4: 2151-2154, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589694</a>] [<a href="https://doi.org/10.1093/hmg/4.11.2151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8589694">Rampazzo et al. (1995)</a> and reported another 3-generation Italian family (family 115) with exercise-induced polymorphic ventricular arrhythmias mapping to 1q43. Sudden death had occurred in the second and third decades of life in patients from both families. <a href="#1" class="mim-tip-reference" title="Bauce, B., Nava, A., Rampazzo, A., Daliento, L., Muriago, M., Basso, C., Thiene, G., Danieli, G. A. <strong>Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-q43.</strong> Am. J. Cardiol. 85: 573-579, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11078270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11078270</a>] [<a href="https://doi.org/10.1016/s0002-9149(99)00814-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11078270">Bauce et al. (2000)</a> noted that these families exhibited a novel, localized form of ARVD, and stated that the clinical findings differed from those previously reported in other ARVD families. ECGs did not show the typical features of ARVD, such as incomplete right bundle branch block or negative T waves in the right precordial leads, and late potentials were rarely present. Cardiac imaging showed normal or only slightly increased right ventricular (RV) volume, and global RV function was normal. Parietal wall abnormalities were predominantly observed at the RV apex and subtricuspid region, although in 3 cases, left ventricular apical akinesia or dyskinesia was also present. The trabecular architecture was always involved. At autopsy, which was performed in 3 patients, myocardial fibrofatty replacement was segmental and mostly involved the RV apex. The authors noted that the ventricular arrhythmias observed in affected individuals from the 2 families showed some unusual features: the coupling interval of the initial premature beat was never short, because the first premature beat occurred after the end of the T wave; and the QRS morphology was polymorphic in both the frontal and horizontal planes, with right and left bundle branch block patterns and superior or inferior axis deviation, suggesting that the arrhythmias originated from different areas of the ventricle. The QT interval and QT dispersion were normal at rest and during exercise. The authors concluded that altered myocardial automaticity triggered by adrenergic stimulation during exercise was the most likely cause of arrhythmias. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11078270+8589694" 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="#4" class="mim-tip-reference" title="Karmouch, J., Protonotarios, A., Syrris, P. <strong>Genetic basis of arrhythmogenic cardiomyopathy.</strong> Curr. Opin. Cardiol. 33: 276-281, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29543670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29543670</a>] [<a href="https://doi.org/10.1097/HCO.0000000000000509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29543670">Karmouch et al. (2018)</a> stated that the observed phenotype in the Italian families with mutations in the RYR2 gene reported by <a href="#11" class="mim-tip-reference" title="Rampazzo, A., Nava, A., Erne, P., Eberhard, M., Vian, E., Slomp, P., Tiso, N., Thiene, G., Danieli, G. A. <strong>A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43.</strong> Hum. Molec. Genet. 4: 2151-2154, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589694</a>] [<a href="https://doi.org/10.1093/hmg/4.11.2151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8589694">Rampazzo et al. (1995)</a> and <a href="#1" class="mim-tip-reference" title="Bauce, B., Nava, A., Rampazzo, A., Daliento, L., Muriago, M., Basso, C., Thiene, G., Danieli, G. A. <strong>Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-q43.</strong> Am. J. Cardiol. 85: 573-579, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11078270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11078270</a>] [<a href="https://doi.org/10.1016/s0002-9149(99)00814-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11078270">Bauce et al. (2000)</a> was catecholamine-induced ventricular tachycardia rather than arrhythmogenic cardiomyopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11078270+29543670+8589694" 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><strong><em>Reviews</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Scoote, M., Williams, A. J. <strong>Myocardial calcium signalling and arrhythmia pathogenesis.</strong> Biochem. Biophys. Res. Commun. 322: 1286-1309, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15336976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15336976</a>] [<a href="https://doi.org/10.1016/j.bbrc.2004.08.034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15336976">Scoote and Williams (2004)</a> reviewed defects in cardiomyocyte calcium homeostasis and the associated arrhythmias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15336976" 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><a href="#10" class="mim-tip-reference" title="Priori, S. G., Napolitano, C., Tiso, N., Memmi, M., Vignati, G., Bloise, R., Sorrentino, V., Danieli, G. A. <strong>Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.</strong> Circulation 103: 196-200, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11208676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11208676</a>] [<a href="https://doi.org/10.1161/01.cir.103.2.196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11208676">Priori et al. (2001)</a> reported autosomal dominant inheritance of CPVT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11208676" 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>Using a CA repeat polymorphism within the ACTN2 (<a href="/entry/102573">102573</a>) gene in a study of an Italian family (family 102) with exercise-induced polymorphic ventricular tachycardias, <a href="#11" class="mim-tip-reference" title="Rampazzo, A., Nava, A., Erne, P., Eberhard, M., Vian, E., Slomp, P., Tiso, N., Thiene, G., Danieli, G. A. <strong>A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43.</strong> Hum. Molec. Genet. 4: 2151-2154, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589694</a>] [<a href="https://doi.org/10.1093/hmg/4.11.2151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8589694">Rampazzo et al. (1995)</a> demonstrated linkage of the disorder to 1q42-q43. They obtained a lod score of 4.02 at theta = 0.0, assuming 95% penetrance, and a lod score of 3.32 at theta = 0.0 when 70% penetrance was assumed. The family also showed significantly positive lod scores for markers flanking the ACTN2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589694" 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>By linkage analysis, <a href="#13" class="mim-tip-reference" title="Swan, H., Piippo, K., Viitasalo, M., Heikkila, P., Paavonen, T., Kainulainen, K., Kere, J., Keto, P., Kontula, K., Toivonen, L. <strong>Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts.</strong> J. Am. Coll. Cardiol. 34: 2035-2042, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10588221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10588221</a>] [<a href="https://doi.org/10.1016/s0735-1097(99)00461-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10588221">Swan et al. (1999)</a> assigned the disease locus to 1q42-q43, with a maximum lod score of 4.74 in the 2 families combined. The 1q42-q43 region contains the KCNK1 gene (<a href="/entry/601745">601745</a>), which encodes a potassium channel. However, sequence analysis of the entire KCNK1 coding region identified no mutations or polymorphisms. Only 1 heterozygous carrier, aged 30 years, was unaffected, suggesting high disease penetrance in adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10588221" 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 large 3-generation family segregating autosomal dominant CPVT associated with nodal dysfunction, atrial arrhythmias, and dilated cardiomyopathy, <a href="#2" class="mim-tip-reference" title="Bhuiyan, Z. A., van den Berg, M. P., van Tintelen, J. P., Bink-Boelkens, M. T. E., Wiesfeld, A. C. P., Alders, M., Postma, A. V., van Langen, I., Mannens, M. M. A. M., Wilde, A. A. M. <strong>Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.</strong> Circulation 116: 1569-1576, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17875969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17875969</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.711606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17875969">Bhuiyan et al. (2007)</a> performed linkage analysis and identified a single locus on chromosome 1 between markers D1S2785 and D1S2850 that cosegregated with disease (2-point lod score of 4.5). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17875969" 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>On the basis of the typical electrocardiographic pattern in this disorder and on the hypothesis that delayed afterdepolarizations underlie the arrhythmia in this disorder, as well as the map location of the clinical phenotype, <a href="#10" class="mim-tip-reference" title="Priori, S. G., Napolitano, C., Tiso, N., Memmi, M., Vignati, G., Bloise, R., Sorrentino, V., Danieli, G. A. <strong>Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.</strong> Circulation 103: 196-200, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11208676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11208676</a>] [<a href="https://doi.org/10.1161/01.cir.103.2.196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11208676">Priori et al. (2001)</a> proposed that mutations of the cardiac ryanodine receptor gene (RYR2; <a href="/entry/180902">180902</a>), which maps to 1q42-q43, may be associated with catecholaminergic polymorphic ventricular tachycardia. In studies of 12 probands presenting with bidirectional ventricular tachycardia that was reproducibly induced by exercise stress testing and/or isoproterenol infusion without structural heart abnormalities, they found 4 heterozygous missense mutations (see <a href="/entry/180902#0001">180902.0001</a>-<a href="/entry/180902#0004">180902.0004</a>) cosegregating with the clinical phenotype. A family history of syncope and sudden death was present in 5 of the 12 patients. All patients had a normal ECG at enrollment, normal atrioventricular conduction, and a normal QT interval. Three additional missense mutations in the RYR2 gene (see <a href="/entry/180902#0007">180902.0007</a>-<a href="/entry/180902#0009">180902.0009</a>) were described by <a href="#5" class="mim-tip-reference" title="Laitinen, P. J., Brown, K. M., Piippo, K., Swan, H., Devaney, J. M., Brahmbhatt, B., Donarum, E. A., Marino, M., Tiso, N., Viitasalo, M., Toivonen, L., Stephan, D. A., Kontula, K. <strong>Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.</strong> Circulation 103: 485-490, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157710</a>] [<a href="https://doi.org/10.1161/01.cir.103.4.485" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11157710">Laitinen et al. (2001)</a>: all were associated with a typical family history of stress-induced ventricular arrhythmia and sudden unexplained death. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11208676+11157710" 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 4 unrelated Italian families segregating autosomal dominant exercise-induced ventricular arrhythmias, including the families (102 and 115) studied by <a href="#11" class="mim-tip-reference" title="Rampazzo, A., Nava, A., Erne, P., Eberhard, M., Vian, E., Slomp, P., Tiso, N., Thiene, G., Danieli, G. A. <strong>A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43.</strong> Hum. Molec. Genet. 4: 2151-2154, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589694</a>] [<a href="https://doi.org/10.1093/hmg/4.11.2151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8589694">Rampazzo et al. (1995)</a> and <a href="#1" class="mim-tip-reference" title="Bauce, B., Nava, A., Rampazzo, A., Daliento, L., Muriago, M., Basso, C., Thiene, G., Danieli, G. A. <strong>Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-q43.</strong> Am. J. Cardiol. 85: 573-579, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11078270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11078270</a>] [<a href="https://doi.org/10.1016/s0002-9149(99)00814-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11078270">Bauce et al. (2000)</a>, <a href="#15" class="mim-tip-reference" title="Tiso, N., Stephan, D. A., Nava, A., Bagattin, A., Devaney, J. M., Stanchi, F., Larderet, G., Brahmbhatt, B., Brown, K., Bauce, B., Muriago, M., Basso, C., Thiene, G., Danieli, G. A., Rampazzo, A. <strong>Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).</strong> Hum. Molec. Genet. 10: 189-194, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159936</a>] [<a href="https://doi.org/10.1093/hmg/10.3.189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11159936">Tiso et al. (2001)</a> refined the physical mapping of the critical disease-associated region, excluded ACTN2 and nidogen (NID; <a href="/entry/131390">131390</a>) as candidate genes, and identified heterozygous missense mutations in the RYR2 gene (see, e.g., <a href="/entry/180902#0005">180902.0005</a>-<a href="/entry/180902#0006">180902.0006</a>). In myocardial cells, the RYR2 protein, activated by Ca(2+), induces the release of calcium from the sarcoplasmic reticulum into the cytosol. The identified RYR2 mutations occurred in 2 highly conserved regions and segregated fully with disease in each family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11078270+11159936+8589694" 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 large 3-generation family segregating autosomal dominant CPVT associated with nodal dysfunction, atrial arrhythmias, and dilated cardiomyopathy mapping to chromosome 1q, <a href="#2" class="mim-tip-reference" title="Bhuiyan, Z. A., van den Berg, M. P., van Tintelen, J. P., Bink-Boelkens, M. T. E., Wiesfeld, A. C. P., Alders, M., Postma, A. V., van Langen, I., Mannens, M. M. A. M., Wilde, A. A. M. <strong>Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.</strong> Circulation 116: 1569-1576, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17875969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17875969</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.711606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17875969">Bhuiyan et al. (2007)</a> screened the coding exons of the candidate genes RYR2 and ACTN2 (<a href="/entry/102573">102573</a>), but found no mutations. MLPA-based fine mapping and PCR analysis identified a heterozygous 1.1-kb deletion of exon 3 and parts of introns 2 and 3 of the RYR2 gene (<a href="/entry/180902#0011">180902.0011</a>). This deletion was found in all affected genotyped individuals in this family and in 2 affected sibs from a second, unrelated family with a similar phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17875969" 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="#7" class="mim-tip-reference" title="Medeiros-Domingo, A., Bhuiyan, Z. A., Tester, D. J., Hofman, N., Bikker, H., van Tintelen, J. P., Mannens, M. M. A. M., Wilde, A. A. M., Ackerman, M. J. <strong>The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome.</strong> J. Am. Coll. Cardiol. 54: 2065-2074, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19926015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19926015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19926015[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.jacc.2009.08.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19926015">Medeiros-Domingo et al. (2009)</a> analyzed all 105 RYR2 exons using PCR, HPLC, and sequencing in 110 unrelated patients with a clinical diagnosis of CPVT and in 45 additional unrelated patients with an initial diagnosis of exercise-induced long QT syndrome (LQTS; see <a href="/entry/192500">192500</a>) but who had a QTc of less than 480 ms and who were negative for mutation in 12 genes known to cause LQTS. The authors identified 63 putative disease-causing mutations that were not found in 400 reference alleles in 73 (47%) of the 155 patients; 13 new mutation-containing exons were identified, with two-thirds of the patients having mutations in 1 of 16 exons. Three large genomic rearrangements involving exon 3 were detected in 3 unrelated cases. <a href="#7" class="mim-tip-reference" title="Medeiros-Domingo, A., Bhuiyan, Z. A., Tester, D. J., Hofman, N., Bikker, H., van Tintelen, J. P., Mannens, M. M. A. M., Wilde, A. A. M., Ackerman, M. J. <strong>The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome.</strong> J. Am. Coll. Cardiol. 54: 2065-2074, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19926015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19926015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19926015[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.jacc.2009.08.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19926015">Medeiros-Domingo et al. (2009)</a> suggested that a tiered targeting strategy for CPVT would uncover approximately 65% of CPVT1-positive cases by selective analysis of just 16 exons out of the 105 exons of the RYR2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19926015" 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 affected members of 2 large multiply consanguineous Amish families with exercise-associated syncope, cardiac arrest, and/or sudden unexplained death, <a href="#14" class="mim-tip-reference" title="Tester, D. J., Bombei, H. M., Fitzgerald, K. K., Giudicessi, J. R., Pitel, B. A., Thorland, E. C., Russell, B. G., Hamrick, S. K., Kim, C. S. J., Haglund-Turnquist, C. M., Johnsrude, C. L., Atkins, D. L., Ochoa Nunez, L. A., Law, I., Temple, J., Ackerman, M. J. <strong>Identification of a novel homozygous multi-exon duplication in RYR2 among children with exertion-related unexplained sudden deaths in the Amish community.</strong> JAMA Cardiol. 5: 13-18, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31913406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31913406</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31913406[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/10.1001/jamacardio.2019.5400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31913406">Tester et al. (2020)</a> identified homozygosity for a 344-kb tandem duplication (chr1:237,205,452-237,519,546, GRCh38) including approximately 26,000 bp of intergenic sequence, the 5-prime UTR/promoter region of the RYR2 gene, and exons 1 through 4 of RYR2. The duplication segregated fully with disease in both families. Although a common ancestor was not identified despite pedigree expansion over several generations, the authors stated that the duplication likely represents a founder mutation in the Amish community. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31913406" 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>Using CPVT patient-specific induced pluripotent stem cell-derived cardiac muscle (iPSC-CM) cell lines carrying different RYR2 mutations, <a href="#8" class="mim-tip-reference" title="Polonen, R. P., Penttinen, K., Swan, H., Aalto-Setala, K. <strong>Antiarrhythmic effects of carvedilol and flecainide in cardiomyocytes derived from catecholaminergic polymorphic ventricular tachycardia patients.</strong> Stem Cells Int. 2018: 9109503, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29760739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29760739</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29760739[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/10.1155/2018/9109503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29760739">Polonen et al. (2018)</a> evaluated the antiarrhythmic efficacy of carvedilol and flecainide. Adrenaline induced arrhythmias in all CPVT iPSC-CM cell lines examined, but it abolished arrhythmias in control cells. Both carvedilol and flecainide were equally effective in treating arrhythmias, as both drugs lowered intracellular Ca(2+) level and beating rate of cardiomyocytes significantly in all CPVT iPSC-CM cell lines. However, flecainide caused abnormal Ca(2+) transients in 61% of control cells compared with 26% of those treated with carvedilol. CPVT cardiomyocytes carrying the exon 3 deletion (<a href="/entry/180902#0011">180902.0011</a>) had the most severe Ca(2+) abnormalities, but they had the best response to drug therapies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29760739" 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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|
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<a id="1" class="mim-anchor"></a>
|
|
<a id="Bauce2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bauce, B., Nava, A., Rampazzo, A., Daliento, L., Muriago, M., Basso, C., Thiene, G., Danieli, G. A.
|
|
<strong>Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-q43.</strong>
|
|
Am. J. Cardiol. 85: 573-579, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11078270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11078270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11078270" 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/s0002-9149(99)00814-0" target="_blank">Full Text</a>]
|
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|
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|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bhuiyan2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bhuiyan, Z. A., van den Berg, M. P., van Tintelen, J. P., Bink-Boelkens, M. T. E., Wiesfeld, A. C. P., Alders, M., Postma, A. V., van Langen, I., Mannens, M. M. A. M., Wilde, A. A. M.
|
|
<strong>Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.</strong>
|
|
Circulation 116: 1569-1576, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17875969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17875969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17875969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/CIRCULATIONAHA.107.711606" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Coumel1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Coumel, P., Fidelle, J., Lucet, V., Attuel, P., Bouvrain, Y.
|
|
<strong>Catecholaminergic-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases.</strong>
|
|
Brit. Heart J. 40 (suppl.): 28-37, 1978.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Karmouch2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Karmouch, J., Protonotarios, A., Syrris, P.
|
|
<strong>Genetic basis of arrhythmogenic cardiomyopathy.</strong>
|
|
Curr. Opin. Cardiol. 33: 276-281, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29543670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29543670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29543670" 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/10.1097/HCO.0000000000000509" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Laitinen2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Laitinen, P. J., Brown, K. M., Piippo, K., Swan, H., Devaney, J. M., Brahmbhatt, B., Donarum, E. A., Marino, M., Tiso, N., Viitasalo, M., Toivonen, L., Stephan, D. A., Kontula, K.
|
|
<strong>Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.</strong>
|
|
Circulation 103: 485-490, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11157710" 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.103.4.485" target="_blank">Full Text</a>]
|
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|
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</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Leenhardt1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leenhardt, A., Lucet, V., Denjoy, I., Grau, F., Ngoc, D. D., Coumel, P.
|
|
<strong>Catecholaminergic polymorphic ventricular tachycardia in children: a 7-year follow-up of 21 patients.</strong>
|
|
Circulation 91: 1512-1519, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7867192/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7867192</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7867192" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
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|
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|
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[<a href="https://doi.org/10.1161/01.cir.91.5.1512" target="_blank">Full Text</a>]
|
|
|
|
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|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Medeiros-Domingo2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Medeiros-Domingo, A., Bhuiyan, Z. A., Tester, D. J., Hofman, N., Bikker, H., van Tintelen, J. P., Mannens, M. M. A. M., Wilde, A. A. M., Ackerman, M. J.
|
|
<strong>The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome.</strong>
|
|
J. Am. Coll. Cardiol. 54: 2065-2074, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19926015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19926015</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19926015[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=19926015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.jacc.2009.08.022" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Polonen2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Polonen, R. P., Penttinen, K., Swan, H., Aalto-Setala, K.
|
|
<strong>Antiarrhythmic effects of carvedilol and flecainide in cardiomyocytes derived from catecholaminergic polymorphic ventricular tachycardia patients.</strong>
|
|
Stem Cells Int. 2018: 9109503, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29760739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29760739</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29760739[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=29760739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1155/2018/9109503" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Priori2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Priori, S. G., Napolitano, C., Memmi, M., Colombi, B., Drago, F., Gasparini, M., DeSimone, L., Coltorti, F., Bloise, R., Keegan, R., Cruz Filho, F. E. S., Vignati, G., Benatar, A., DeLogu, A.
|
|
<strong>Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.</strong>
|
|
Circulation 106: 69-74, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12093772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12093772</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12093772" 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.0000020013.73106.d8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Priori2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Priori, S. G., Napolitano, C., Tiso, N., Memmi, M., Vignati, G., Bloise, R., Sorrentino, V., Danieli, G. A.
|
|
<strong>Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.</strong>
|
|
Circulation 103: 196-200, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11208676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11208676</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11208676" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1161/01.cir.103.2.196" target="_blank">Full Text</a>]
|
|
|
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|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Rampazzo1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rampazzo, A., Nava, A., Erne, P., Eberhard, M., Vian, E., Slomp, P., Tiso, N., Thiene, G., Danieli, G. A.
|
|
<strong>A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43.</strong>
|
|
Hum. Molec. Genet. 4: 2151-2154, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589694</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589694" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/4.11.2151" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Scoote2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Scoote, M., Williams, A. J.
|
|
<strong>Myocardial calcium signalling and arrhythmia pathogenesis.</strong>
|
|
Biochem. Biophys. Res. Commun. 322: 1286-1309, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15336976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15336976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15336976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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[<a href="https://doi.org/10.1016/j.bbrc.2004.08.034" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Swan1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Swan, H., Piippo, K., Viitasalo, M., Heikkila, P., Paavonen, T., Kainulainen, K., Kere, J., Keto, P., Kontula, K., Toivonen, L.
|
|
<strong>Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts.</strong>
|
|
J. Am. Coll. Cardiol. 34: 2035-2042, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10588221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10588221</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10588221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0735-1097(99)00461-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Tester2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tester, D. J., Bombei, H. M., Fitzgerald, K. K., Giudicessi, J. R., Pitel, B. A., Thorland, E. C., Russell, B. G., Hamrick, S. K., Kim, C. S. J., Haglund-Turnquist, C. M., Johnsrude, C. L., Atkins, D. L., Ochoa Nunez, L. A., Law, I., Temple, J., Ackerman, M. J.
|
|
<strong>Identification of a novel homozygous multi-exon duplication in RYR2 among children with exertion-related unexplained sudden deaths in the Amish community.</strong>
|
|
JAMA Cardiol. 5: 13-18, 2020.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31913406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31913406</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31913406[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=31913406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/jamacardio.2019.5400" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Tiso2001" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tiso, N., Stephan, D. A., Nava, A., Bagattin, A., Devaney, J. M., Stanchi, F., Larderet, G., Brahmbhatt, B., Brown, K., Bauce, B., Muriago, M., Basso, C., Thiene, G., Danieli, G. A., Rampazzo, A.
|
|
<strong>Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).</strong>
|
|
Hum. Molec. Genet. 10: 189-194, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11159936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/10.3.189" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Viskin1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Viskin, S., Belhassen, B.
|
|
<strong>Polymorphic ventricular tachyarrhythmias in the absence of organic heart disease: classification, differential diagnosis, and implication for therapy.</strong>
|
|
Prog. Cardiovasc. Dis. 41: 17-34, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9717857/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9717857</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9717857" 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/s0033-0620(98)80020-0" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 03/07/2023
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Bao Lige - updated : 06/14/2021<br>Marla J. F. O'Neill - updated : 03/18/2021<br>Marla J. F. O'Neill - updated : 9/30/2013<br>Marla J. F. O'Neill - updated : 5/26/2011<br>Marla J. F. O'Neill - updated : 4/10/2008<br>Marla J. F. O'Neill - updated : 4/8/2008<br>Marla J. F. O'Neill - updated : 7/29/2005<br>Paul Brennan - updated : 4/17/2002<br>Victor A. McKusick - updated : 12/20/2001<br>Victor A. McKusick - updated : 1/2/2001
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Victor A. McKusick : 3/31/2000
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carol : 04/01/2024
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alopez : 03/07/2023<br>alopez : 08/23/2021<br>mgross : 06/14/2021<br>alopez : 03/23/2021<br>carol : 03/22/2021<br>carol : 03/19/2021<br>alopez : 03/18/2021<br>alopez : 02/19/2020<br>carol : 06/07/2019<br>carol : 11/11/2014<br>carol : 10/1/2013<br>tpirozzi : 9/30/2013<br>carol : 11/6/2012<br>terry : 3/20/2012<br>terry : 3/20/2012<br>terry : 6/22/2011<br>joanna : 6/8/2011<br>wwang : 6/2/2011<br>terry : 5/26/2011<br>alopez : 3/3/2010<br>wwang : 4/10/2008<br>wwang : 4/8/2008<br>carol : 11/15/2005<br>terry : 7/29/2005<br>carol : 11/10/2003<br>alopez : 4/17/2002<br>carol : 1/9/2002<br>terry : 12/20/2001<br>cwells : 5/3/2001<br>cwells : 1/5/2001<br>cwells : 1/5/2001<br>terry : 1/2/2001<br>mgross : 4/28/2000<br>mgross : 3/31/2000
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<strong>#</strong> 604772
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VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1
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<em>Alternative titles; symbols</em>
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VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1; VTSIP1<br />
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VTSIP
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<strong>ORPHA:</strong> 3286;
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<strong>DO:</strong> 0060675;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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1q43
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Ventricular tachycardia, catecholaminergic polymorphic, 1
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604772
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Autosomal dominant
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RYR2
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180902
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<p>A number sign (#) is used with this entry because of evidence that catecholaminergic polymorphic ventricular tachycardia-1 (CPVT1) is caused by heterozygous mutation in the cardiac ryanodine receptor gene (RYR2; 180902) on chromosome 1q43.</p><p>A homozygous 344-kb tandem duplication involving the 5-prime UTR/promoter region and exons 1 through 4 of the RYR2 gene has been reported in 2 Amish families with a phenotype consistent with CPVT1; see CLINICAL FEATURES and CYTOGENETICS.</p>
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<p>Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder of the heart characterized by a reproducible form of polymorphic ventricular tachycardia induced by physical activity, stress, or catecholamine infusion, which can deteriorate into ventricular fibrillation. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. Typically, clinical cardiologic examinations, such as baseline ECG and echocardiogram, reveal mostly normal findings, and postmortem examinations, when carried out, have not disclosed any significant morphologic alterations in the fine structure of the heart, with the exception of mild fatty myocardial infiltration in a few patients. The hallmark of CPVT comprises ventricular arrhythmias of varying morphology not present under resting conditions but appearing only with physical exercise, excitement, or catecholamine administration. These arrhythmias are first seen as ventricular premature complexes, later in bigeminy, followed by bidirectional or polymorphic ventricular tachycardia, which eventually leads to ventricular fibrillation. CPVT can be inherited as an autosomal dominant or recessive trait. Clinical penetrance in this disease ranges from 25 to 100%, with an average of 70 to 80%. Syncope appears to be the first symptom in more than half of the patients. When untreated, mortality from CPVT is high, reaching 30 to 50% by the age of 30 years. Beta-blockers without sympathomimetic activity are clinically effective in the reduction of syncope, but implantation of an automatic internal defibrillator is occasionally needed in these patients (summary by Bhuiyan et al., 2007). </p><p><strong><em>Genetic Heterogeneity of Catecholaminergic Polymorphic Ventricular Tachycardia</em></strong></p><p>
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Also see CPVT2 (611938), caused by mutation in the CASQ2 gene (114251) on chromosome 1p13; CPVT3 (614021), caused by mutation in the TECRL gene (617242) on chromosome 4q13; CPVT4 (614916), caused by mutation in the CALM1 gene (114180) on chromosome 14q32; CPVT5 (615441) is caused by mutation in the TRDN gene (603283) on chromosome 6q22; and CPVT6 (see 618782) is caused by mutation in the CALM3 gene (114183) on chromosome 19q13.</p>
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<strong>Clinical Features</strong>
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<p>Catecholaminergic polymorphic ventricular tachycardia (CPVT) occurring in the structurally intact heart was described by Coumel et al. (1978) and by Leenhardt et al. (1995) as a distinct clinical entity with manifestations in childhood and adolescence. Affected individuals present with syncopal events and with a distinctive pattern of highly reproducible, stress-related, bidirectional ventricular tachycardia in the absence of both structural heart disease and a prolonged QT interval. A family history of juvenile sudden death and stress-induced syncope is present in approximately one-third of cases. Swan et al. (1999) described 2 unrelated Finnish families with an autosomal dominant cardiac syndrome causing stress-induced polymorphic ventricular tachycardia and syncope in the absence of structural myocardial changes (see 192605). Of 24 affected individuals, 10 had succumbed, including 6 cases of sudden death; the 14 survivors showed evidence of the disease. Exercise stress test induced ventricular bigeminy or polymorphic ventricular tachycardia in affected individuals. Three children initially examined before 10 years of age developed arrhythmias during a 4-year follow-up. Administration of flecainide did not induce electrocardiographic abnormalities of the type seen in familial idiopathic ventricular fibrillation (603829). The cumulative cardiac mortality by the age of 30 years was 31%. </p><p>Priori et al. (2002) studied 30 probands with CPVT, 14 of whom were known to have a mutation in the RYR2 gene. Nine family members were identified as RYR2 mutation carriers, 5 of whom had exercise-induced arrhythmias at clinical evaluation and 4 of whom were phenotypically silent (incomplete penetrance). Syncope occurred in 26 of 30 probands and was the first sign of disease in 16 probands. Age at first manifestation extended into adulthood (7 of 30 probands); the authors suggested that the diagnosis of CPVT should include individuals of any age with adrenergically mediated asymptomatic ventricular tachycardia occurring in a structurally intact heart. </p><p>Scoote and Williams (2004) reviewed defects in cardiomyocyte calcium homeostasis and the associated arrhythmias. </p><p>Bhuiyan et al. (2007) studied 2 families with CPVT in which, in addition to exercise-induced ventricular arrhythmias, affected individuals exhibited abnormalities in sinoatrial and atrioventricular node function, atrial fibrillation, and atrial standstill. Several affected individuals also developed left ventricular dysfunction and dilation. </p><p>Tester et al. (2020) reported 2 large multiply consanguineous Amish families in which a phenotype consistent with CPVT1 segregated with homozygosity for a large tandem duplication involving 26,000 basepairs of intergenic sequence, the RYR2 5-prime UTR/promoter region, and exons 1 through 4 of the RYR2 gene (see CYTOGENETICS). Multiple young members experienced exercise-associated syncope, cardiac arrest, and/or sudden unexplained death. The proband of family 1, who had a normal electrocardiogram (ECG) and exercise stress test after an episode of exercise-associated syncope, died suddenly several years later at age 12 during physical exertion. She had 3 sisters who also experienced exercise-associated sudden cardiac death, at 10, 9, and 3 years of age. In another branch of the extended family, 3 sisters were affected, including 1 who died during her second cardiac arrest at age 4 years. Another sister survived documented ventricular fibrillation and cardiac arrest while swimming; follow-up evaluation showed normal echocardiogram and serial ECGs, whereas exercise stress testing revealed monomorphic ventricular ectopy that was accentuated with low-level exercise but attenuated with increasing heart rates and exertion. The third sister experienced syncope while swimming, despite having had a normal exercise stress test a few weeks before. Family 2 had more than 250 members, of whom 15 experienced exercise-associated sudden death at a young age (mean age at death, 11.7 years). In one family branch, 3 brothers and 1 sister were affected, and 1 of the brothers died at age 11 years; in another branch, 2 sisters were affected, 1 of whom died at age 6 years. A survivor of SCA in family 2 with an implantable cardioverter/defibrillator experienced 3 appropriate ventricular tachycardia/ventricular fibrillation-terminating shocks. Review of device tracings revealed premature ventricular contractions with a short coupling interval and R-on-T phenomena that triggered torsades de pointes and soon degenerated into ventricular fibrillation. The authors noted that the phenotype did not appear to be distinct from autosomal dominant RYR2-mediated CPVT. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Rampazzo et al. (1995) performed studies in a large 4-generation Italian family with what they designated as a 'concealed' form of arrhythmogenic right ventricular dysplasia (ARVD; see 107970) mapping to 1q43; affected members showed no change in heart size and had normal standard ECG and functional capacity, but consistently showed effort-induced polymorphic ventricular tachycardias. Juvenile sudden death had occurred in 4 members. Postmortem examination of 2 of these subjects showed a right ventricle of normal size, with no overt abnormalities. However, large areas of fatty-fibrous replacement, mostly localized in the subepicardial layer of the right ventricle, were demonstrated histologically. </p><p>Bauce et al. (2000) restudied the large Italian family (family 102) originally described by Rampazzo et al. (1995) and reported another 3-generation Italian family (family 115) with exercise-induced polymorphic ventricular arrhythmias mapping to 1q43. Sudden death had occurred in the second and third decades of life in patients from both families. Bauce et al. (2000) noted that these families exhibited a novel, localized form of ARVD, and stated that the clinical findings differed from those previously reported in other ARVD families. ECGs did not show the typical features of ARVD, such as incomplete right bundle branch block or negative T waves in the right precordial leads, and late potentials were rarely present. Cardiac imaging showed normal or only slightly increased right ventricular (RV) volume, and global RV function was normal. Parietal wall abnormalities were predominantly observed at the RV apex and subtricuspid region, although in 3 cases, left ventricular apical akinesia or dyskinesia was also present. The trabecular architecture was always involved. At autopsy, which was performed in 3 patients, myocardial fibrofatty replacement was segmental and mostly involved the RV apex. The authors noted that the ventricular arrhythmias observed in affected individuals from the 2 families showed some unusual features: the coupling interval of the initial premature beat was never short, because the first premature beat occurred after the end of the T wave; and the QRS morphology was polymorphic in both the frontal and horizontal planes, with right and left bundle branch block patterns and superior or inferior axis deviation, suggesting that the arrhythmias originated from different areas of the ventricle. The QT interval and QT dispersion were normal at rest and during exercise. The authors concluded that altered myocardial automaticity triggered by adrenergic stimulation during exercise was the most likely cause of arrhythmias. </p><p>Karmouch et al. (2018) stated that the observed phenotype in the Italian families with mutations in the RYR2 gene reported by Rampazzo et al. (1995) and Bauce et al. (2000) was catecholamine-induced ventricular tachycardia rather than arrhythmogenic cardiomyopathy. </p><p><strong><em>Reviews</em></strong></p><p>
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Scoote and Williams (2004) reviewed defects in cardiomyocyte calcium homeostasis and the associated arrhythmias. </p>
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<p>Priori et al. (2001) reported autosomal dominant inheritance of CPVT1. </p>
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<p>Using a CA repeat polymorphism within the ACTN2 (102573) gene in a study of an Italian family (family 102) with exercise-induced polymorphic ventricular tachycardias, Rampazzo et al. (1995) demonstrated linkage of the disorder to 1q42-q43. They obtained a lod score of 4.02 at theta = 0.0, assuming 95% penetrance, and a lod score of 3.32 at theta = 0.0 when 70% penetrance was assumed. The family also showed significantly positive lod scores for markers flanking the ACTN2 gene. </p><p>By linkage analysis, Swan et al. (1999) assigned the disease locus to 1q42-q43, with a maximum lod score of 4.74 in the 2 families combined. The 1q42-q43 region contains the KCNK1 gene (601745), which encodes a potassium channel. However, sequence analysis of the entire KCNK1 coding region identified no mutations or polymorphisms. Only 1 heterozygous carrier, aged 30 years, was unaffected, suggesting high disease penetrance in adulthood. </p><p>In a large 3-generation family segregating autosomal dominant CPVT associated with nodal dysfunction, atrial arrhythmias, and dilated cardiomyopathy, Bhuiyan et al. (2007) performed linkage analysis and identified a single locus on chromosome 1 between markers D1S2785 and D1S2850 that cosegregated with disease (2-point lod score of 4.5). </p>
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<strong>Molecular Genetics</strong>
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<p>On the basis of the typical electrocardiographic pattern in this disorder and on the hypothesis that delayed afterdepolarizations underlie the arrhythmia in this disorder, as well as the map location of the clinical phenotype, Priori et al. (2001) proposed that mutations of the cardiac ryanodine receptor gene (RYR2; 180902), which maps to 1q42-q43, may be associated with catecholaminergic polymorphic ventricular tachycardia. In studies of 12 probands presenting with bidirectional ventricular tachycardia that was reproducibly induced by exercise stress testing and/or isoproterenol infusion without structural heart abnormalities, they found 4 heterozygous missense mutations (see 180902.0001-180902.0004) cosegregating with the clinical phenotype. A family history of syncope and sudden death was present in 5 of the 12 patients. All patients had a normal ECG at enrollment, normal atrioventricular conduction, and a normal QT interval. Three additional missense mutations in the RYR2 gene (see 180902.0007-180902.0009) were described by Laitinen et al. (2001): all were associated with a typical family history of stress-induced ventricular arrhythmia and sudden unexplained death. </p><p>In 4 unrelated Italian families segregating autosomal dominant exercise-induced ventricular arrhythmias, including the families (102 and 115) studied by Rampazzo et al. (1995) and Bauce et al. (2000), Tiso et al. (2001) refined the physical mapping of the critical disease-associated region, excluded ACTN2 and nidogen (NID; 131390) as candidate genes, and identified heterozygous missense mutations in the RYR2 gene (see, e.g., 180902.0005-180902.0006). In myocardial cells, the RYR2 protein, activated by Ca(2+), induces the release of calcium from the sarcoplasmic reticulum into the cytosol. The identified RYR2 mutations occurred in 2 highly conserved regions and segregated fully with disease in each family. </p><p>In a large 3-generation family segregating autosomal dominant CPVT associated with nodal dysfunction, atrial arrhythmias, and dilated cardiomyopathy mapping to chromosome 1q, Bhuiyan et al. (2007) screened the coding exons of the candidate genes RYR2 and ACTN2 (102573), but found no mutations. MLPA-based fine mapping and PCR analysis identified a heterozygous 1.1-kb deletion of exon 3 and parts of introns 2 and 3 of the RYR2 gene (180902.0011). This deletion was found in all affected genotyped individuals in this family and in 2 affected sibs from a second, unrelated family with a similar phenotype. </p><p>Medeiros-Domingo et al. (2009) analyzed all 105 RYR2 exons using PCR, HPLC, and sequencing in 110 unrelated patients with a clinical diagnosis of CPVT and in 45 additional unrelated patients with an initial diagnosis of exercise-induced long QT syndrome (LQTS; see 192500) but who had a QTc of less than 480 ms and who were negative for mutation in 12 genes known to cause LQTS. The authors identified 63 putative disease-causing mutations that were not found in 400 reference alleles in 73 (47%) of the 155 patients; 13 new mutation-containing exons were identified, with two-thirds of the patients having mutations in 1 of 16 exons. Three large genomic rearrangements involving exon 3 were detected in 3 unrelated cases. Medeiros-Domingo et al. (2009) suggested that a tiered targeting strategy for CPVT would uncover approximately 65% of CPVT1-positive cases by selective analysis of just 16 exons out of the 105 exons of the RYR2 gene. </p>
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<p>In affected members of 2 large multiply consanguineous Amish families with exercise-associated syncope, cardiac arrest, and/or sudden unexplained death, Tester et al. (2020) identified homozygosity for a 344-kb tandem duplication (chr1:237,205,452-237,519,546, GRCh38) including approximately 26,000 bp of intergenic sequence, the 5-prime UTR/promoter region of the RYR2 gene, and exons 1 through 4 of RYR2. The duplication segregated fully with disease in both families. Although a common ancestor was not identified despite pedigree expansion over several generations, the authors stated that the duplication likely represents a founder mutation in the Amish community. </p>
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<p>Using CPVT patient-specific induced pluripotent stem cell-derived cardiac muscle (iPSC-CM) cell lines carrying different RYR2 mutations, Polonen et al. (2018) evaluated the antiarrhythmic efficacy of carvedilol and flecainide. Adrenaline induced arrhythmias in all CPVT iPSC-CM cell lines examined, but it abolished arrhythmias in control cells. Both carvedilol and flecainide were equally effective in treating arrhythmias, as both drugs lowered intracellular Ca(2+) level and beating rate of cardiomyocytes significantly in all CPVT iPSC-CM cell lines. However, flecainide caused abnormal Ca(2+) transients in 61% of control cells compared with 26% of those treated with carvedilol. CPVT cardiomyocytes carrying the exon 3 deletion (180902.0011) had the most severe Ca(2+) abnormalities, but they had the best response to drug therapies. </p>
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Viskin and Belhassen (1998)
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<strong>REFERENCES</strong>
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|
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</div>
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<li>
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<p class="mim-text-font">
|
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Bauce, B., Nava, A., Rampazzo, A., Daliento, L., Muriago, M., Basso, C., Thiene, G., Danieli, G. A.
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<strong>Familial effort polymorphic ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy map to chromosome 1q42-q43.</strong>
|
|
Am. J. Cardiol. 85: 573-579, 2000.
|
|
|
|
|
|
[PubMed: 11078270]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0002-9149(99)00814-0]
|
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|
|
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bhuiyan, Z. A., van den Berg, M. P., van Tintelen, J. P., Bink-Boelkens, M. T. E., Wiesfeld, A. C. P., Alders, M., Postma, A. V., van Langen, I., Mannens, M. M. A. M., Wilde, A. A. M.
|
|
<strong>Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.</strong>
|
|
Circulation 116: 1569-1576, 2007.
|
|
|
|
|
|
[PubMed: 17875969]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.107.711606]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Coumel, P., Fidelle, J., Lucet, V., Attuel, P., Bouvrain, Y.
|
|
<strong>Catecholaminergic-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases.</strong>
|
|
Brit. Heart J. 40 (suppl.): 28-37, 1978.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Karmouch, J., Protonotarios, A., Syrris, P.
|
|
<strong>Genetic basis of arrhythmogenic cardiomyopathy.</strong>
|
|
Curr. Opin. Cardiol. 33: 276-281, 2018.
|
|
|
|
|
|
[PubMed: 29543670]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/HCO.0000000000000509]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Laitinen, P. J., Brown, K. M., Piippo, K., Swan, H., Devaney, J. M., Brahmbhatt, B., Donarum, E. A., Marino, M., Tiso, N., Viitasalo, M., Toivonen, L., Stephan, D. A., Kontula, K.
|
|
<strong>Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.</strong>
|
|
Circulation 103: 485-490, 2001.
|
|
|
|
|
|
[PubMed: 11157710]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.cir.103.4.485]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Leenhardt, A., Lucet, V., Denjoy, I., Grau, F., Ngoc, D. D., Coumel, P.
|
|
<strong>Catecholaminergic polymorphic ventricular tachycardia in children: a 7-year follow-up of 21 patients.</strong>
|
|
Circulation 91: 1512-1519, 1995.
|
|
|
|
|
|
[PubMed: 7867192]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.cir.91.5.1512]
|
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|
|
|
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</p>
|
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
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Medeiros-Domingo, A., Bhuiyan, Z. A., Tester, D. J., Hofman, N., Bikker, H., van Tintelen, J. P., Mannens, M. M. A. M., Wilde, A. A. M., Ackerman, M. J.
|
|
<strong>The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome.</strong>
|
|
J. Am. Coll. Cardiol. 54: 2065-2074, 2009.
|
|
|
|
|
|
[PubMed: 19926015]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.jacc.2009.08.022]
|
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</p>
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</li>
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|
|
<li>
|
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<p class="mim-text-font">
|
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Polonen, R. P., Penttinen, K., Swan, H., Aalto-Setala, K.
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<strong>Antiarrhythmic effects of carvedilol and flecainide in cardiomyocytes derived from catecholaminergic polymorphic ventricular tachycardia patients.</strong>
|
|
Stem Cells Int. 2018: 9109503, 2018.
|
|
|
|
|
|
[PubMed: 29760739]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1155/2018/9109503]
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</p>
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</li>
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<li>
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Priori, S. G., Napolitano, C., Memmi, M., Colombi, B., Drago, F., Gasparini, M., DeSimone, L., Coltorti, F., Bloise, R., Keegan, R., Cruz Filho, F. E. S., Vignati, G., Benatar, A., DeLogu, A.
|
|
<strong>Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.</strong>
|
|
Circulation 106: 69-74, 2002.
|
|
|
|
|
|
[PubMed: 12093772]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.cir.0000020013.73106.d8]
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Priori, S. G., Napolitano, C., Tiso, N., Memmi, M., Vignati, G., Bloise, R., Sorrentino, V., Danieli, G. A.
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<strong>Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.</strong>
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Circulation 103: 196-200, 2001.
|
|
|
|
|
|
[PubMed: 11208676]
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|
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[Full Text: https://doi.org/10.1161/01.cir.103.2.196]
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</li>
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Rampazzo, A., Nava, A., Erne, P., Eberhard, M., Vian, E., Slomp, P., Tiso, N., Thiene, G., Danieli, G. A.
|
|
<strong>A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43.</strong>
|
|
Hum. Molec. Genet. 4: 2151-2154, 1995.
|
|
|
|
|
|
[PubMed: 8589694]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/4.11.2151]
|
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</p>
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</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Scoote, M., Williams, A. J.
|
|
<strong>Myocardial calcium signalling and arrhythmia pathogenesis.</strong>
|
|
Biochem. Biophys. Res. Commun. 322: 1286-1309, 2004.
|
|
|
|
|
|
[PubMed: 15336976]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.bbrc.2004.08.034]
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</li>
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Swan, H., Piippo, K., Viitasalo, M., Heikkila, P., Paavonen, T., Kainulainen, K., Kere, J., Keto, P., Kontula, K., Toivonen, L.
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|
<strong>Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts.</strong>
|
|
J. Am. Coll. Cardiol. 34: 2035-2042, 1999.
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|
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|
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[PubMed: 10588221]
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[Full Text: https://doi.org/10.1016/s0735-1097(99)00461-1]
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Tester, D. J., Bombei, H. M., Fitzgerald, K. K., Giudicessi, J. R., Pitel, B. A., Thorland, E. C., Russell, B. G., Hamrick, S. K., Kim, C. S. J., Haglund-Turnquist, C. M., Johnsrude, C. L., Atkins, D. L., Ochoa Nunez, L. A., Law, I., Temple, J., Ackerman, M. J.
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<strong>Identification of a novel homozygous multi-exon duplication in RYR2 among children with exertion-related unexplained sudden deaths in the Amish community.</strong>
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JAMA Cardiol. 5: 13-18, 2020.
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[PubMed: 31913406]
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[Full Text: https://doi.org/10.1001/jamacardio.2019.5400]
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Tiso, N., Stephan, D. A., Nava, A., Bagattin, A., Devaney, J. M., Stanchi, F., Larderet, G., Brahmbhatt, B., Brown, K., Bauce, B., Muriago, M., Basso, C., Thiene, G., Danieli, G. A., Rampazzo, A.
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<strong>Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).</strong>
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Hum. Molec. Genet. 10: 189-194, 2001.
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[PubMed: 11159936]
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[Full Text: https://doi.org/10.1093/hmg/10.3.189]
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Viskin, S., Belhassen, B.
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<strong>Polymorphic ventricular tachyarrhythmias in the absence of organic heart disease: classification, differential diagnosis, and implication for therapy.</strong>
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Prog. Cardiovasc. Dis. 41: 17-34, 1998.
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[PubMed: 9717857]
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[Full Text: https://doi.org/10.1016/s0033-0620(98)80020-0]
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Marla J. F. O'Neill - updated : 03/07/2023<br>Bao Lige - updated : 06/14/2021<br>Marla J. F. O'Neill - updated : 03/18/2021<br>Marla J. F. O'Neill - updated : 9/30/2013<br>Marla J. F. O'Neill - updated : 5/26/2011<br>Marla J. F. O'Neill - updated : 4/10/2008<br>Marla J. F. O'Neill - updated : 4/8/2008<br>Marla J. F. O'Neill - updated : 7/29/2005<br>Paul Brennan - updated : 4/17/2002<br>Victor A. McKusick - updated : 12/20/2001<br>Victor A. McKusick - updated : 1/2/2001
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Victor A. McKusick : 3/31/2000
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carol : 04/01/2024<br>alopez : 03/07/2023<br>alopez : 08/23/2021<br>mgross : 06/14/2021<br>alopez : 03/23/2021<br>carol : 03/22/2021<br>carol : 03/19/2021<br>alopez : 03/18/2021<br>alopez : 02/19/2020<br>carol : 06/07/2019<br>carol : 11/11/2014<br>carol : 10/1/2013<br>tpirozzi : 9/30/2013<br>carol : 11/6/2012<br>terry : 3/20/2012<br>terry : 3/20/2012<br>terry : 6/22/2011<br>joanna : 6/8/2011<br>wwang : 6/2/2011<br>terry : 5/26/2011<br>alopez : 3/3/2010<br>wwang : 4/10/2008<br>wwang : 4/8/2008<br>carol : 11/15/2005<br>terry : 7/29/2005<br>carol : 11/10/2003<br>alopez : 4/17/2002<br>carol : 1/9/2002<br>terry : 12/20/2001<br>cwells : 5/3/2001<br>cwells : 1/5/2001<br>cwells : 1/5/2001<br>terry : 1/2/2001<br>mgross : 4/28/2000<br>mgross : 3/31/2000
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