2272 lines
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Entry
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- #108770 - ATRIAL STANDSTILL 1; ATRST1
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- OMIM
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<p>
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<span class="h4">#108770</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/108770"><strong>Clinical Synopsis</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<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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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</span>
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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=(ATRIAL STANDSTILL) OR (GJA5)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=982&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/gtr/all/tests/?term=108770[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=1344" 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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<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:0080662" 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/108770" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 1344<br />
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<strong>DO:</strong> 0080662<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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108770
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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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ATRIAL STANDSTILL 1; ATRST1
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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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ATRIAL CARDIOMYOPATHY WITH HEART BLOCK<br />
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CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
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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">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</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/1/1038?start=-3&limit=10&highlight=1038">
|
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1q21.2
|
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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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Atrial standstill, digenic (GJA5/SCN5A)
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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/108770"> 108770 </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>
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</td>
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<td>
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<span class="mim-font">
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GJA5
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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/121013"> 121013 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/108770" 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 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/108770" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/108770" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
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</div>
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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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<strong> Cardiac </strong>
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- First-degree heart block<br /> - Ectopic supraventricular rhythms <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63593006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63593006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406461004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406461004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/287057009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">287057009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/284470004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">284470004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0033036&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033036</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006699</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006699</a>]</span><br /> - Atrial standstill <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 /> - Atrial inexcitability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837846</a>]</span><br /> - Atrial cardiomyopathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4021885&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4021885</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200127" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200127</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200127" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200127</a>]</span><br />
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- Endocardial fibroelastosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65457005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65457005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001706" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001706</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001706" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001706</a>]</span><br />
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<strong> Inheritance </strong>
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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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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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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<p>A number sign (#) is used with this entry because of evidence that atrial standstill-1 (ATRST1) is caused by coinheritance of a variant in the SCN5A gene (<a href="/entry/600163">600163</a>) in combination with a rare connexin-40 (GJA5; <a href="/entry/121013">121013</a>) genotype.</p><p>Atrial standstill associated with massive atrial dilation (ATRST2; <a href="/entry/615745">615745</a>) is caused by mutation in the NPPA gene (<a href="/entry/108780">108780</a>) on chromosome 1p36.</p>
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<p>Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by <a href="#3" class="mim-tip-reference" title="Fazelifar, A. F., Arya, A., Haghjoo, M., Sadr-Ameli, M. A. <strong>Familial atrial standstill in association with dilated cardiomyopathy.</strong> Pacing Clin. Electrophysiol. 28: 1005-1008, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16176547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16176547</a>] [<a href="https://doi.org/10.1111/j.1540-8159.2005.00198.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16176547">Fazelifar et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16176547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a discussion of atrial standstill, <a href="#5" class="mim-tip-reference" title="Harrison, W. H., Jr., Derrick, J. R. <strong>Atrial standstill: a review, and presentation of two new cases of familial and unusual nature with reference to epicardial pacing in one.</strong> Angiology 20: 610-617, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5347950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5347950</a>] [<a href="https://doi.org/10.1177/000331976902001007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5347950">Harrison and Derrick (1969)</a> described Latin-American sibs with possible cardiac amyloidosis. Both parents and sister had died suddenly. <a href="#1" class="mim-tip-reference" title="Allensworth, D. C., Rice, G. J., Lowe, G. W. <strong>Persistent atrial standstill in a family with myocardial disease.</strong> Am. J. Med. 47: 775-784, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4981961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4981961</a>] [<a href="https://doi.org/10.1016/0002-9343(69)90170-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4981961">Allensworth et al. (1969)</a> described 3 sibs, aged 38, 34 and 33, with bradycardia, cardiac enlargement, and congestive heart failure. The electrocardiogram (ECG) showed absent P waves with normal QRS configuration and duration. Stimulation of the atrium with a cardiac catheter or a pacemaker did not induce atrial depolarization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4981961+5347950" 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 3 of 5 sibs and in the son of 1 of the 3 sibs (a male), <a href="#8" class="mim-tip-reference" title="Williams, D. O., Jones, E. L., Nagle, B., Smith, S. <strong>Familial atrial cardiomyopathy with heart block.</strong> Quart. J. Med. 41: 491-508, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4636548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4636548</a>]" pmid="4636548">Williams et al. (1972)</a> found first-degree heart block and ectopic supraventricular rhythms progressing to persistent standstill with complete loss of response to direct atrial stimulation. The extensively affected kindred reported by <a href="#2" class="mim-tip-reference" title="Amat-y-Leon, F., Racki, A. J., Denes, P., Ten Eick, R. E., Singer, D. H., Baharati, S., Lev, M., Rosen, K. M. <strong>Familial atrial dysrhythmia with A-V block: intracellular microelectrode, clinical electrophysiologic, and morphologic observations.</strong> Circulation 50: 1097-1104, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4430108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4430108</a>] [<a href="https://doi.org/10.1161/01.cir.50.6.1097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4430108">Amat-y-Leon et al. (1974)</a> may have had the same condition. Familial atrial standstill is characteristic of amyloidosis type III (<a href="/entry/176300#0007">176300.0007</a>), also known as the Danish or cardiac form. <a href="#7" class="mim-tip-reference" title="Shah, M. K., Subramanyan, R., Tharakan, J., Venkitachalam, C. G., Balakrishnan, K. G. <strong>Familial total atrial standstill.</strong> Am. Heart J. 123: 1379-1382, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1575158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1575158</a>] [<a href="https://doi.org/10.1016/0002-8703(92)91048-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1575158">Shah et al. (1992)</a> reported the cases of adult sisters with total atrial standstill. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4636548+1575158+4430108" 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="#6" class="mim-tip-reference" title="Makita, N., Sasaki, K., Groenewegen, W. A., Yokota, T., Yokoshiki, H., Murakami, T., Tsutsui, H. <strong>Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.</strong> Heart Rhythm 2: 1128-1134, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16188595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16188595</a>] [<a href="https://doi.org/10.1016/j.hrthm.2005.06.032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16188595">Makita et al. (2005)</a> studied a Japanese boy who at 3 years of age presented with severe bradycardia and was diagnosed with sick sinus syndrome (see SSS1, <a href="/entry/608567">608567</a>) with paroxysmal atrial fibrillation based on Holter ECG recordings. At 5 years of age, histologic examination of a right ventricular endocardial specimen was reported as normal. By age 10 years, the patient had atrial standstill with a maximum RR interval of 6.65 seconds. Examination at 11 years of age showed absence of P waves and a 40-bpm junctional rhythm with ventricular escape beats, with normal QRS duration and QTc interval. Holter ECG exhibited junctional rhythm with a maximum RR interval of 5.42 seconds, and intracardiac recordings showed a junctional rhythm with ventricular escape beats, absence of atrial activity, and a slightly prolonged 56-ms His-ventricular interval. Family history revealed that 2 of the paternal grandfather's sibs died suddenly in the first decade of life; however, other family members were asymptomatic, and there was no history of cardiac pacemaker implantation or cardiac surgery. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16188595" 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>The transmission pattern of ATRST1 in the family reported by <a href="#4" class="mim-tip-reference" title="Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A. <strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong> Circ. Res. 92: 14-22, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>] [<a href="https://doi.org/10.1161/01.res.0000050585.07097.d7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522116">Groenewegen et al. (2003)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522116" 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="#4" class="mim-tip-reference" title="Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A. <strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong> Circ. Res. 92: 14-22, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>] [<a href="https://doi.org/10.1161/01.res.0000050585.07097.d7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522116">Groenewegen et al. (2003)</a> reported a family in which 1 deceased and 3 living members had atrial standstill. They identified a heterozygous asp1275-to-asn (D1275N; <a href="/entry/600163#0034">600163.0034</a>) in the SCN5A gene in all 3 affected living members and in 5 unaffected members; the deceased member was an obligate carrier. Eight family members were found to be homozygous for 2 closely linked polymorphisms within regulatory regions of the gene for the atrial-specific gap junction protein connexin-40 (<a href="/entry/121013">121013</a>): a G-to-A substitution at nucleotide -44 and an A-to-G transition at nucleotide 71. Only the 3 affected living members coinherited the SCN5A mutation and the 2 rare GJA5 polymorphisms. <a href="#4" class="mim-tip-reference" title="Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A. <strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong> Circ. Res. 92: 14-22, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>] [<a href="https://doi.org/10.1161/01.res.0000050585.07097.d7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522116">Groenewegen et al. (2003)</a> proposed that atrial standstill in this family resulted from the coinheritance of the SCN5A mutation and the rare GJA5 polymorphisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522116" 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 Japanese family in which an 11-year-old boy had sick sinus syndrome that progressed to atrial standstill, <a href="#6" class="mim-tip-reference" title="Makita, N., Sasaki, K., Groenewegen, W. A., Yokota, T., Yokoshiki, H., Murakami, T., Tsutsui, H. <strong>Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.</strong> Heart Rhythm 2: 1128-1134, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16188595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16188595</a>] [<a href="https://doi.org/10.1016/j.hrthm.2005.06.032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16188595">Makita et al. (2005)</a> analyzed 3 cardiac ion channel genes previously associated with atrial standstill, atrial fibrillation, or sick sinus syndrome: SCN5A, HCN4 (<a href="/entry/605206">605206</a>), and GJA5. No mutations were found in HCN4, but the proband and his asymptomatic father were heterozygous for a missense mutation in SCN5A (L212P; <a href="/entry/600163#0048">600163.0048</a>). In addition, the proband and his unaffected mother and maternal grandmother were all heterozygous for the same 2 rare GJA5 polymorphisms identified by <a href="#4" class="mim-tip-reference" title="Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A. <strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong> Circ. Res. 92: 14-22, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>] [<a href="https://doi.org/10.1161/01.res.0000050585.07097.d7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12522116">Groenewegen et al. (2003)</a> in atrial standstill patients, -44A/+71G. The proband's asymptomatic father had normal sinus rhythm with nonspecific ST depression in the inferior leads on ECG, whereas his unaffected mother and maternal grandmother had normal ECGs. Functional analysis with the L212P mutant channels demonstrated large hyperpolarizing shifts in both the voltage dependence of activation and inactivation and delayed recovery from inactivation compared to wildtype. <a href="#6" class="mim-tip-reference" title="Makita, N., Sasaki, K., Groenewegen, W. A., Yokota, T., Yokoshiki, H., Murakami, T., Tsutsui, H. <strong>Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.</strong> Heart Rhythm 2: 1128-1134, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16188595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16188595</a>] [<a href="https://doi.org/10.1016/j.hrthm.2005.06.032" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16188595">Makita et al. (2005)</a> suggested that defects in SCN5A underlie atrial standstill, and that coinheritance of GJA5 polymorphisms represents a possible genetic modifier of the clinical manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16188595+12522116" 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="https://doi.org/10.1016/0002-9343(69)90170-3" target="_blank">Full Text</a>]
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Amat-y-Leon, F., Racki, A. J., Denes, P., Ten Eick, R. E., Singer, D. H., Baharati, S., Lev, M., Rosen, K. M.
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Circulation 50: 1097-1104, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4430108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4430108</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4430108" 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.50.6.1097" target="_blank">Full Text</a>]
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Fazelifar, A. F., Arya, A., Haghjoo, M., Sadr-Ameli, M. A.
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<strong>Familial atrial standstill in association with dilated cardiomyopathy.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16176547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16176547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16176547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1540-8159.2005.00198.x" target="_blank">Full Text</a>]
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Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A.
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<strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong>
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Circ. Res. 92: 14-22, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522116</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Harrison, W. H., Jr., Derrick, J. R.
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<strong>Atrial standstill: a review, and presentation of two new cases of familial and unusual nature with reference to epicardial pacing in one.</strong>
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Angiology 20: 610-617, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5347950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5347950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5347950" 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/10.1177/000331976902001007" target="_blank">Full Text</a>]
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Makita, N., Sasaki, K., Groenewegen, W. A., Yokota, T., Yokoshiki, H., Murakami, T., Tsutsui, H.
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<strong>Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.</strong>
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Heart Rhythm 2: 1128-1134, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16188595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16188595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16188595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.hrthm.2005.06.032" target="_blank">Full Text</a>]
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Shah, M. K., Subramanyan, R., Tharakan, J., Venkitachalam, C. G., Balakrishnan, K. G.
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<strong>Familial total atrial standstill.</strong>
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Am. Heart J. 123: 1379-1382, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1575158/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1575158</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1575158" 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(92)91048-6" target="_blank">Full Text</a>]
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Williams, D. O., Jones, E. L., Nagle, B., Smith, S.
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<strong>Familial atrial cardiomyopathy with heart block.</strong>
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Quart. J. Med. 41: 491-508, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4636548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4636548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4636548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill - updated : 4/17/2014<br>Carol A. Bocchini - updated : 2/22/2006
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alopez : 11/18/2022
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carol : 04/29/2014<br>mcolton : 4/28/2014<br>mcolton : 4/25/2014<br>mcolton : 4/24/2014<br>carol : 4/17/2014<br>alopez : 2/17/2010<br>alopez : 10/3/2007<br>alopez : 9/11/2007<br>carol : 6/30/2006<br>carol : 2/23/2006<br>joanna : 2/22/2006<br>carol : 2/22/2006<br>ckniffin : 4/19/2004<br>carol : 11/8/1994<br>mimadm : 4/9/1994<br>carol : 6/19/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>supermim : 1/20/1990
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<strong>#</strong> 108770
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ATRIAL STANDSTILL 1; ATRST1
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ATRIAL CARDIOMYOPATHY WITH HEART BLOCK<br />
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CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
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<strong>ORPHA:</strong> 1344;
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<strong>DO:</strong> 0080662;
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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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<th>
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Location
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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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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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<span class="mim-font">
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1q21.2
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Atrial standstill, digenic (GJA5/SCN5A)
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<span class="mim-font">
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108770
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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GJA5
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<span class="mim-font">
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121013
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that atrial standstill-1 (ATRST1) is caused by coinheritance of a variant in the SCN5A gene (600163) in combination with a rare connexin-40 (GJA5; 121013) genotype.</p><p>Atrial standstill associated with massive atrial dilation (ATRST2; 615745) is caused by mutation in the NPPA gene (108780) on chromosome 1p36.</p>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005). </p>
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<strong>Clinical Features</strong>
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<p>In a discussion of atrial standstill, Harrison and Derrick (1969) described Latin-American sibs with possible cardiac amyloidosis. Both parents and sister had died suddenly. Allensworth et al. (1969) described 3 sibs, aged 38, 34 and 33, with bradycardia, cardiac enlargement, and congestive heart failure. The electrocardiogram (ECG) showed absent P waves with normal QRS configuration and duration. Stimulation of the atrium with a cardiac catheter or a pacemaker did not induce atrial depolarization. </p><p>In 3 of 5 sibs and in the son of 1 of the 3 sibs (a male), Williams et al. (1972) found first-degree heart block and ectopic supraventricular rhythms progressing to persistent standstill with complete loss of response to direct atrial stimulation. The extensively affected kindred reported by Amat-y-Leon et al. (1974) may have had the same condition. Familial atrial standstill is characteristic of amyloidosis type III (176300.0007), also known as the Danish or cardiac form. Shah et al. (1992) reported the cases of adult sisters with total atrial standstill. </p><p>Makita et al. (2005) studied a Japanese boy who at 3 years of age presented with severe bradycardia and was diagnosed with sick sinus syndrome (see SSS1, 608567) with paroxysmal atrial fibrillation based on Holter ECG recordings. At 5 years of age, histologic examination of a right ventricular endocardial specimen was reported as normal. By age 10 years, the patient had atrial standstill with a maximum RR interval of 6.65 seconds. Examination at 11 years of age showed absence of P waves and a 40-bpm junctional rhythm with ventricular escape beats, with normal QRS duration and QTc interval. Holter ECG exhibited junctional rhythm with a maximum RR interval of 5.42 seconds, and intracardiac recordings showed a junctional rhythm with ventricular escape beats, absence of atrial activity, and a slightly prolonged 56-ms His-ventricular interval. Family history revealed that 2 of the paternal grandfather's sibs died suddenly in the first decade of life; however, other family members were asymptomatic, and there was no history of cardiac pacemaker implantation or cardiac surgery. </p>
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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 ATRST1 in the family reported by Groenewegen et al. (2003) was consistent with autosomal dominant inheritance. </p>
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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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<p>Groenewegen et al. (2003) reported a family in which 1 deceased and 3 living members had atrial standstill. They identified a heterozygous asp1275-to-asn (D1275N; 600163.0034) in the SCN5A gene in all 3 affected living members and in 5 unaffected members; the deceased member was an obligate carrier. Eight family members were found to be homozygous for 2 closely linked polymorphisms within regulatory regions of the gene for the atrial-specific gap junction protein connexin-40 (121013): a G-to-A substitution at nucleotide -44 and an A-to-G transition at nucleotide 71. Only the 3 affected living members coinherited the SCN5A mutation and the 2 rare GJA5 polymorphisms. Groenewegen et al. (2003) proposed that atrial standstill in this family resulted from the coinheritance of the SCN5A mutation and the rare GJA5 polymorphisms. </p><p>In a Japanese family in which an 11-year-old boy had sick sinus syndrome that progressed to atrial standstill, Makita et al. (2005) analyzed 3 cardiac ion channel genes previously associated with atrial standstill, atrial fibrillation, or sick sinus syndrome: SCN5A, HCN4 (605206), and GJA5. No mutations were found in HCN4, but the proband and his asymptomatic father were heterozygous for a missense mutation in SCN5A (L212P; 600163.0048). In addition, the proband and his unaffected mother and maternal grandmother were all heterozygous for the same 2 rare GJA5 polymorphisms identified by Groenewegen et al. (2003) in atrial standstill patients, -44A/+71G. The proband's asymptomatic father had normal sinus rhythm with nonspecific ST depression in the inferior leads on ECG, whereas his unaffected mother and maternal grandmother had normal ECGs. Functional analysis with the L212P mutant channels demonstrated large hyperpolarizing shifts in both the voltage dependence of activation and inactivation and delayed recovery from inactivation compared to wildtype. Makita et al. (2005) suggested that defects in SCN5A underlie atrial standstill, and that coinheritance of GJA5 polymorphisms represents a possible genetic modifier of the clinical manifestations. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p />
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<ol>
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<li>
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<p class="mim-text-font">
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Allensworth, D. C., Rice, G. J., Lowe, G. W.
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<strong>Persistent atrial standstill in a family with myocardial disease.</strong>
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Am. J. Med. 47: 775-784, 1969.
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[PubMed: 4981961]
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[Full Text: https://doi.org/10.1016/0002-9343(69)90170-3]
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</li>
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<li>
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<p class="mim-text-font">
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Amat-y-Leon, F., Racki, A. J., Denes, P., Ten Eick, R. E., Singer, D. H., Baharati, S., Lev, M., Rosen, K. M.
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<strong>Familial atrial dysrhythmia with A-V block: intracellular microelectrode, clinical electrophysiologic, and morphologic observations.</strong>
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Circulation 50: 1097-1104, 1974.
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[PubMed: 4430108]
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[Full Text: https://doi.org/10.1161/01.cir.50.6.1097]
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<li>
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<p class="mim-text-font">
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Fazelifar, A. F., Arya, A., Haghjoo, M., Sadr-Ameli, M. A.
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<strong>Familial atrial standstill in association with dilated cardiomyopathy.</strong>
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Pacing Clin. Electrophysiol. 28: 1005-1008, 2005.
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[PubMed: 16176547]
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[Full Text: https://doi.org/10.1111/j.1540-8159.2005.00198.x]
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</li>
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<li>
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<p class="mim-text-font">
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Groenewegen, W. A., Firouzi, M., Bezzina, C. R., Vliex, S., van Langen, I. M., Sandkuijl, L., Smits, J. P., Hulsbeek, M., Rook, M. B., Jongsma, H. J., Wilde, A. A.
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<strong>A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.</strong>
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Circ. Res. 92: 14-22, 2003.
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[PubMed: 12522116]
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[Full Text: https://doi.org/10.1161/01.res.0000050585.07097.d7]
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<li>
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<p class="mim-text-font">
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Harrison, W. H., Jr., Derrick, J. R.
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<strong>Atrial standstill: a review, and presentation of two new cases of familial and unusual nature with reference to epicardial pacing in one.</strong>
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Angiology 20: 610-617, 1969.
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[PubMed: 5347950]
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[Full Text: https://doi.org/10.1177/000331976902001007]
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</li>
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<li>
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<p class="mim-text-font">
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Makita, N., Sasaki, K., Groenewegen, W. A., Yokota, T., Yokoshiki, H., Murakami, T., Tsutsui, H.
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<strong>Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.</strong>
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Heart Rhythm 2: 1128-1134, 2005.
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[PubMed: 16188595]
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[Full Text: https://doi.org/10.1016/j.hrthm.2005.06.032]
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</li>
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<li>
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<p class="mim-text-font">
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Shah, M. K., Subramanyan, R., Tharakan, J., Venkitachalam, C. G., Balakrishnan, K. G.
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<strong>Familial total atrial standstill.</strong>
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Am. Heart J. 123: 1379-1382, 1992.
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[PubMed: 1575158]
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[Full Text: https://doi.org/10.1016/0002-8703(92)91048-6]
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<li>
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<p class="mim-text-font">
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Williams, D. O., Jones, E. L., Nagle, B., Smith, S.
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<strong>Familial atrial cardiomyopathy with heart block.</strong>
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Quart. J. Med. 41: 491-508, 1972.
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[PubMed: 4636548]
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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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 : 4/28/2014<br>Marla J. F. O'Neill - updated : 4/17/2014<br>Carol A. Bocchini - updated : 2/22/2006
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</span>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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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 class="text-nowrap mim-text-font">
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Edit History:
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</span>
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</div>
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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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alopez : 11/18/2022<br>carol : 04/29/2014<br>mcolton : 4/28/2014<br>mcolton : 4/25/2014<br>mcolton : 4/24/2014<br>carol : 4/17/2014<br>alopez : 2/17/2010<br>alopez : 10/3/2007<br>alopez : 9/11/2007<br>carol : 6/30/2006<br>carol : 2/23/2006<br>joanna : 2/22/2006<br>carol : 2/22/2006<br>ckniffin : 4/19/2004<br>carol : 11/8/1994<br>mimadm : 4/9/1994<br>carol : 6/19/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>supermim : 1/20/1990
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