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<title>
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Entry
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- #115000 - VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME; VACRDS
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- OMIM
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<span class="h4">#115000</span>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</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="#creationDate"><strong>Creation Date</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME) OR (RYR2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=115000[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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<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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115000
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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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|
VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME; VACRDS
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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>
|
|
<span class="mim-font">
|
|
RYR2 CALCIUM RELEASE DEFICIENCY SYNDROME
|
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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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<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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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/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 arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
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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/115000"> 115000 </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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<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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</td>
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<td>
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<span class="mim-font">
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RYR2
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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/180902"> 180902 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/115000" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/115000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/115000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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<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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<p />
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<div class="small" style="margin: 5px">
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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- 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 />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> CARDIOVASCULAR </strong>
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</span>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Heart </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- 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 /> -
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Ventricular fibrillation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164896001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164896001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71908006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71908006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.01</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042510</a>, <a href="https://bioportal.bioontology.org/search?q=C0344435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344435</a>, <a href="https://bioportal.bioontology.org/search?q=C2108112&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2108112</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001663</a>]</span><br /> -
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Polymorphic ventricular tachycardia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251159007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251159007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4552094&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4552094</a>, <a href="https://bioportal.bioontology.org/search?q=C0344432&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344432</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031677</a>]</span><br /> -
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Cardiac arrest <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397829000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397829000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/410429000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">410429000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I46</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001695</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001695</a>]</span><br />
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</span>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset of symptoms in 2nd to 9th decades of life<br /> -
|
|
Symptoms often associated with physical exertion or acute emotional stress<br /> -
|
|
Sudden unexpected death (in some patients)<br /> -
|
|
Exercise stress test is negative (in some patients)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the ryanodine receptor-2 gene (RYR2, <a href="/entry/180902#0010">180902.0010</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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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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</span>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) is caused by heterozygous mutation in the RYR2 gene (<a href="/entry/180902">180902</a>) on chromosome 1q43.</p>
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</span>
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<div>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) is characterized by syncope, cardiac arrest, and/or sudden unexpected death. Polymorphic ventricular tachycardia and ventricular fibrillation have been documented in these patients. Symptoms generally occur with physical activity or emotional stress, but unlike typical catecholaminergic ventricular tachycardia (CPVT), arrhythmias are not reproducible on exercise stress testing or adrenaline challenge (<a href="#6" class="mim-tip-reference" title="Sun, B., Yao, J., Ni, M., Wei, J., Zhong, X., Guo, W., Zhang, L., Wang, R., Belke, D., Chen, Y.-X., Lieve, K. V. V., Broendberg, A. K., and 19 others. <strong>Cardiac ryanodine receptor calcium release deficiency syndrome.</strong> Sci. Transl. Med. 13: eaba7287, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33536282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33536282</a>] [<a href="https://doi.org/10.1126/scitranslmed.aba7287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33536282">Sun et al., 2021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33536282" 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>Mutation in the RYR2 gene also causes catecholaminergic polymorphic ventricular tachycardia-1 (CPVT1; <a href="/entry/604772">604772</a>).</p>
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</span>
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<div>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<p><a href="#6" class="mim-tip-reference" title="Sun, B., Yao, J., Ni, M., Wei, J., Zhong, X., Guo, W., Zhang, L., Wang, R., Belke, D., Chen, Y.-X., Lieve, K. V. V., Broendberg, A. K., and 19 others. <strong>Cardiac ryanodine receptor calcium release deficiency syndrome.</strong> Sci. Transl. Med. 13: eaba7287, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33536282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33536282</a>] [<a href="https://doi.org/10.1126/scitranslmed.aba7287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33536282">Sun et al. (2021)</a> reported 17 patients from 6 families with life-threatening ventricular arrhythmias and/or sudden cardiac death (SCD) who had mutations in the RYR2 gene. Patients experienced syncope or cardiac arrest, often in association with physical exertion or acute emotional stress. Polymorphic ventricular tachycardia and/or ventricular fibrillation was documented in patients who survived. All probands showed negative results on exercise stress testing and/or adrenaline challenge, with no ventricular arrhythmias elicited. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33536282" 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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<div>
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<br />
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<div>
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<a id="inheritance" class="mim-anchor"></a>
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<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of VACRDS in the families reported by <a href="#6" class="mim-tip-reference" title="Sun, B., Yao, J., Ni, M., Wei, J., Zhong, X., Guo, W., Zhang, L., Wang, R., Belke, D., Chen, Y.-X., Lieve, K. V. V., Broendberg, A. K., and 19 others. <strong>Cardiac ryanodine receptor calcium release deficiency syndrome.</strong> Sci. Transl. Med. 13: eaba7287, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33536282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33536282</a>] [<a href="https://doi.org/10.1126/scitranslmed.aba7287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33536282">Sun et al. (2021)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33536282" 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 6 families in which the proband experienced SCD or aborted SCD (aSCD), <a href="#6" class="mim-tip-reference" title="Sun, B., Yao, J., Ni, M., Wei, J., Zhong, X., Guo, W., Zhang, L., Wang, R., Belke, D., Chen, Y.-X., Lieve, K. V. V., Broendberg, A. K., and 19 others. <strong>Cardiac ryanodine receptor calcium release deficiency syndrome.</strong> Sci. Transl. Med. 13: eaba7287, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33536282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33536282</a>] [<a href="https://doi.org/10.1126/scitranslmed.aba7287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33536282">Sun et al. (2021)</a> identified heterozygosity for missense mutations in the RYR2 gene (see, e.g., <a href="/entry/180902#0012">180902.0012</a>-<a href="/entry/180902#0014">180902.0014</a>). Combining these families with 4 previously reported families with RYR2 missense mutations, including a family studied by <a href="#4" 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> (<a href="/entry/180902#0010">180902.0010</a>), showed that 31 (67%) of 46 mutation carriers experienced SCD or aSCD, whereas none of the 46 mutation-negative individuals had life-threatening ventricular arrhythmias. All of the RYR2 missense mutations showed loss-of-function effects, and <a href="#6" class="mim-tip-reference" title="Sun, B., Yao, J., Ni, M., Wei, J., Zhong, X., Guo, W., Zhang, L., Wang, R., Belke, D., Chen, Y.-X., Lieve, K. V. V., Broendberg, A. K., and 19 others. <strong>Cardiac ryanodine receptor calcium release deficiency syndrome.</strong> Sci. Transl. Med. 13: eaba7287, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33536282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33536282</a>] [<a href="https://doi.org/10.1126/scitranslmed.aba7287" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33536282">Sun et al. (2021)</a> designated the disorder 'RYR2 Ca(2+) release deficiency syndrome (CRDS).' Because the arrhythmias in these patients are not reproducible on exercise stress testing or adrenaline challenge, the authors developed a ventricular pacing protocol to unmask the condition before potentially lethal events manifest, and were successful in eliciting polymorphic ventricular arrhythmias in 2 patients using the 3-component stimulation sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=33536282+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>
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<p><a href="#3" class="mim-tip-reference" title="Kuhn, E., Wolf, D., Stieler, M. <strong>Familial polytopic and polymorphic extrasystoles.</strong> Jpn. Heart J. 5: 81-84, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14115011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14115011</a>] [<a href="https://doi.org/10.1536/ihj.5.81" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14115011">Kuhn et al. (1964)</a> described 2 sisters with polymorphic and polytopic ventricular extrasystoles. One had syncopal attacks. A brother died suddenly at age 10 and the mother at age 40, under circumstances suggesting the presence of the same disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14115011" 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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<a href="#Berg1960" class="mim-tip-reference" title="Berg, K. J. <strong>Multifocal ventricular extrasystoles with Adams-Stokes syndrome in siblings.</strong> Am. Heart J. 60: 965-970, 1960.">Berg (1960)</a>; <a href="#Gault1972" class="mim-tip-reference" title="Gault, J. H., Cantwell, J., Lev, M., Braunwald, E. <strong>Fatal familial cardiac arrhythmias.</strong> Am. J. Cardiol. 29: 548-553, 1972.">Gault et al. (1972)</a>; <a href="#Sacks1974" class="mim-tip-reference" title="Sacks, H. S., Matisonn, R., Kennelly, B. M. <strong>Familial paroxysmal ventricular tachycardia in two sisters.</strong> Am. Heart J. 87: 217-222, 1974.">Sacks et al. (1974)</a>; <a href="#Waynberger1974" class="mim-tip-reference" title="Waynberger, M., Courtadon, M., Peltier, J.-M., Ducloux, G., Jallut, H., Slama, R. <strong>Tachycardies ventriculaires familiales: a propos de 7 observations.</strong> Presse Med. 14: 1857-1860, 1974.">Waynberger et
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Berg, K. J.
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<strong>Multifocal ventricular extrasystoles with Adams-Stokes syndrome in siblings.</strong>
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Am. Heart J. 60: 965-970, 1960.
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Gault, J. H., Cantwell, J., Lev, M., Braunwald, E.
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<strong>Fatal familial cardiac arrhythmias.</strong>
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Am. J. Cardiol. 29: 548-553, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5016833/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5016833</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5016833" 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/10.1016/0002-9149(72)90447-x" target="_blank">Full Text</a>]
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Kuhn, E., Wolf, D., Stieler, M.
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<strong>Familial polytopic and polymorphic extrasystoles.</strong>
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Jpn. Heart J. 5: 81-84, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14115011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14115011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14115011" 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/10.1536/ihj.5.81" target="_blank">Full Text</a>]
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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.
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<strong>Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.</strong>
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Circulation 106: 69-74, 2002.
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[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>]
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Sacks, H. S., Matisonn, R., Kennelly, B. M.
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<strong>Familial paroxysmal ventricular tachycardia in two sisters.</strong>
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Am. Heart J. 87: 217-222, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4129426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4129426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4129426" 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/10.1016/0002-8703(74)90044-1" target="_blank">Full Text</a>]
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Sun, B., Yao, J., Ni, M., Wei, J., Zhong, X., Guo, W., Zhang, L., Wang, R., Belke, D., Chen, Y.-X., Lieve, K. V. V., Broendberg, A. K., and 19 others.
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<strong>Cardiac ryanodine receptor calcium release deficiency syndrome.</strong>
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Sci. Transl. Med. 13: eaba7287, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33536282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33536282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33536282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Waynberger, M., Courtadon, M., Peltier, J.-M., Ducloux, G., Jallut, H., Slama, R.
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<strong>Tachycardies ventriculaires familiales: a propos de 7 observations.</strong>
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Presse Med. 14: 1857-1860, 1974.
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carol : 01/13/2022<br>alopez : 05/21/2021<br>mimadm : 6/25/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 10/17/1986
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VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME; VACRDS
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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RYR2 CALCIUM RELEASE DEFICIENCY SYNDROME
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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</th>
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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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1q43
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<span class="mim-font">
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Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
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</td>
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<td>
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<span class="mim-font">
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115000
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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RYR2
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<span class="mim-font">
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180902
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) is caused by heterozygous mutation in the RYR2 gene (180902) on chromosome 1q43.</p>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<p>Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome (VACRDS) is characterized by syncope, cardiac arrest, and/or sudden unexpected death. Polymorphic ventricular tachycardia and ventricular fibrillation have been documented in these patients. Symptoms generally occur with physical activity or emotional stress, but unlike typical catecholaminergic ventricular tachycardia (CPVT), arrhythmias are not reproducible on exercise stress testing or adrenaline challenge (Sun et al., 2021). </p><p>Mutation in the RYR2 gene also causes catecholaminergic polymorphic ventricular tachycardia-1 (CPVT1; 604772).</p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Sun et al. (2021) reported 17 patients from 6 families with life-threatening ventricular arrhythmias and/or sudden cardiac death (SCD) who had mutations in the RYR2 gene. Patients experienced syncope or cardiac arrest, often in association with physical exertion or acute emotional stress. Polymorphic ventricular tachycardia and/or ventricular fibrillation was documented in patients who survived. All probands showed negative results on exercise stress testing and/or adrenaline challenge, with no ventricular arrhythmias elicited. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of VACRDS in the families reported by Sun et al. (2021) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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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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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 6 families in which the proband experienced SCD or aborted SCD (aSCD), Sun et al. (2021) identified heterozygosity for missense mutations in the RYR2 gene (see, e.g., 180902.0012-180902.0014). Combining these families with 4 previously reported families with RYR2 missense mutations, including a family studied by Priori et al. (2002) (180902.0010), showed that 31 (67%) of 46 mutation carriers experienced SCD or aSCD, whereas none of the 46 mutation-negative individuals had life-threatening ventricular arrhythmias. All of the RYR2 missense mutations showed loss-of-function effects, and Sun et al. (2021) designated the disorder 'RYR2 Ca(2+) release deficiency syndrome (CRDS).' Because the arrhythmias in these patients are not reproducible on exercise stress testing or adrenaline challenge, the authors developed a ventricular pacing protocol to unmask the condition before potentially lethal events manifest, and were successful in eliciting polymorphic ventricular arrhythmias in 2 patients using the 3-component stimulation sequence. </p>
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</span>
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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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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kuhn et al. (1964) described 2 sisters with polymorphic and polytopic ventricular extrasystoles. One had syncopal attacks. A brother died suddenly at age 10 and the mother at age 40, under circumstances suggesting the presence of the same disorder. </p>
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</span>
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<div>
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<br />
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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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<strong>See Also:</strong>
|
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</span>
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</h4>
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<span class="mim-text-font">
|
|
Berg (1960); Gault et al. (1972); Sacks et al. (1974); Waynberger et
|
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al. (1974)
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</span>
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<div>
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<br />
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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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<strong>REFERENCES</strong>
|
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Berg, K. J.
|
|
<strong>Multifocal ventricular extrasystoles with Adams-Stokes syndrome in siblings.</strong>
|
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Am. Heart J. 60: 965-970, 1960.
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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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Gault, J. H., Cantwell, J., Lev, M., Braunwald, E.
|
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<strong>Fatal familial cardiac arrhythmias.</strong>
|
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Am. J. Cardiol. 29: 548-553, 1972.
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[PubMed: 5016833]
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[Full Text: https://doi.org/10.1016/0002-9149(72)90447-x]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kuhn, E., Wolf, D., Stieler, M.
|
|
<strong>Familial polytopic and polymorphic extrasystoles.</strong>
|
|
Jpn. Heart J. 5: 81-84, 1964.
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[PubMed: 14115011]
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[Full Text: https://doi.org/10.1536/ihj.5.81]
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</p>
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</li>
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<li>
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<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.
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[PubMed: 12093772]
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[Full Text: https://doi.org/10.1161/01.cir.0000020013.73106.d8]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Sacks, H. S., Matisonn, R., Kennelly, B. M.
|
|
<strong>Familial paroxysmal ventricular tachycardia in two sisters.</strong>
|
|
Am. Heart J. 87: 217-222, 1974.
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[PubMed: 4129426]
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[Full Text: https://doi.org/10.1016/0002-8703(74)90044-1]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Sun, B., Yao, J., Ni, M., Wei, J., Zhong, X., Guo, W., Zhang, L., Wang, R., Belke, D., Chen, Y.-X., Lieve, K. V. V., Broendberg, A. K., and 19 others.
|
|
<strong>Cardiac ryanodine receptor calcium release deficiency syndrome.</strong>
|
|
Sci. Transl. Med. 13: eaba7287, 2021.
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|
|
[PubMed: 33536282]
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[Full Text: https://doi.org/10.1126/scitranslmed.aba7287]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Waynberger, M., Courtadon, M., Peltier, J.-M., Ducloux, G., Jallut, H., Slama, R.
|
|
<strong>Tachycardies ventriculaires familiales: a propos de 7 observations.</strong>
|
|
Presse Med. 14: 1857-1860, 1974.
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</p>
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</li>
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</ol>
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<div>
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<br />
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 05/21/2021
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</div>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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alopez : 03/07/2023<br>carol : 01/13/2022<br>alopez : 05/21/2021<br>mimadm : 6/25/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 10/17/1986
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