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Entry
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- #612838 - BRUGADA SYNDROME 5; BRGDA5
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- OMIM
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<span class="h4">#612838</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS601144"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=BRUGADA SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8022&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Brugada syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=965&Typ=Pat" title="Familial progressive cardiac conduction defect" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial progressive cardi… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1517/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7875" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=612838[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Brugada syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=871" title="Familial progressive cardiac conduction defect" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial progressive cardi…</a></div>
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</div>
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</div>
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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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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110222" 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/612838" 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 class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 130, 871<br />
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<strong>DO:</strong> 0110222<br />
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">ICD+</a>
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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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612838
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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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BRUGADA SYNDROME 5; BRGDA5
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</h3>
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<div>
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<br />
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<a id="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED
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<div>
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<br />
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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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<span class="mim-font">
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<a href="/geneMap/19/567?start=-3&limit=10&highlight=567">
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19q13.11
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</a>
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</td>
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<td>
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<span class="mim-font">
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Cardiac conduction defect, nonspecific
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<span class="mim-font">
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<a href="/entry/612838"> 612838 </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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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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SCN1B
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<td>
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<span class="mim-font">
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<a href="/entry/600235"> 600235 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/geneMap/19/567?start=-3&limit=10&highlight=567">
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19q13.11
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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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Brugada syndrome 5
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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/612838"> 612838 </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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</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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SCN1B
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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/600235"> 600235 </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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<a href="/phenotypicSeries/PS601144" class="btn btn-info" role="button"> Phenotypic Series </a>
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<li><a href="/graph/linear/612838" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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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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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Brugada syndrome
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- <a href="/phenotypicSeries/PS601144">PS601144</a>
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- 11 Entries
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</h5>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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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/1/919?start=-3&limit=10&highlight=919"> 1p13.2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616399"> Brugada syndrome 9 </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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|
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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/616399"> 616399 </a>
|
|
</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/605411"> KCND3 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/605411"> 605411 </a>
|
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</span>
|
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</td>
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</tr>
|
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|
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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/3/141?start=-3&limit=10&highlight=141"> 3p22.3 </a>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611777"> Brugada syndrome 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611777"> 611777 </a>
|
|
</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/611778"> GPD1L </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/611778"> 611778 </a>
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
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<a href="/geneMap/3/181?start=-3&limit=10&highlight=181"> 3p22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601144"> Brugada syndrome 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/601144"> 601144 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/600163"> SCN5A </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/600163"> 600163 </a>
|
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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|
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<a href="/geneMap/10/88?start=-3&limit=10&highlight=88"> 10p12.33-p12.31 </a>
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|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/611876"> Brugada syndrome 4 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611876"> 611876 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600003"> CACNB2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600003"> 600003 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/746?start=-3&limit=10&highlight=746"> 11q13.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613119"> ?Brugada syndrome 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613119"> 613119 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604433"> KCNE3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604433"> 604433 </a>
|
|
</span>
|
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</td>
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</tr>
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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/11/1045?start=-3&limit=10&highlight=1045"> 11q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613120"> Brugada syndrome 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613120"> 613120 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608214"> SCN3B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608214"> 608214 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1045?start=-3&limit=10&highlight=1045"> 11q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613120"> Atrial fibrillation, familial, 16 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613120"> 613120 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608214"> SCN3B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608214"> 608214 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/18?start=-3&limit=10&highlight=18"> 12p13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611875"> Brugada syndrome 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
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|
</span>
|
|
</td>
|
|
<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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<a href="/entry/611875"> 611875 </a>
|
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</span>
|
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</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/114205"> CACNA1C </a>
|
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</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/114205"> 114205 </a>
|
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</span>
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</td>
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</tr>
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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/15/361?start=-3&limit=10&highlight=361"> 15q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613123"> Brugada syndrome 8 </a>
|
|
</span>
|
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</td>
|
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<td>
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<span class="mim-font">
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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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/613123"> 613123 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/605206"> HCN4 </a>
|
|
</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/605206"> 605206 </a>
|
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</span>
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</td>
|
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</tr>
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|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/567?start=-3&limit=10&highlight=567"> 19q13.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612838"> Brugada syndrome 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612838"> 612838 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600235"> SCN1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600235"> 600235 </a>
|
|
</span>
|
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</td>
|
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</tr>
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|
|
<tr>
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<a href="/entry/612838"> Cardiac conduction defect, nonspecific </a>
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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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<a href="/entry/600235"> SCN1B </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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<p>A number sign (#) is used with this entry because of evidence that Brugada syndrome-5 (BRGDA5) and a nonspecific cardiac conduction defect are caused by heterozygous mutation in the SCN1B gene (<a href="/entry/600235">600235</a>) on chromosome 19q13.</p>
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<p>Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by <a href="#1" class="mim-tip-reference" title="Antzelevitch, C., Brugada, P., Borggrefe, M., Brugada, J., Brugada, R., Corrado, D., Gussak, I., LeMarec, H., Nademanee, K., Perez Riera, A. R., Shimizu, W., Schulze-Bahr, E., Tan, H., Wilde, A. <strong>Brugada syndrome: report of the second consensus conference.</strong> Circulation 111: 659-670, 2005. Note: Erratum: Circulation 112: e74, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15655131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15655131</a>] [<a href="https://doi.org/10.1161/01.CIR.0000152479.54298.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15655131">Antzelevitch et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15655131" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (<a href="/entry/601144">601144</a>).</p>
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<p><a href="#2" class="mim-tip-reference" title="Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R. <strong>Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.</strong> J. Clin. Invest. 118: 2260-2268, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18464934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18464934</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18464934[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI33891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18464934">Watanabe et al. (2008)</a> studied 3 kindreds with conduction abnormalities, 1 Turkish, 1 French, and 1 Dutch; none of the families had a history of syncope, sudden cardiac death, or epilepsy. The Turkish proband was a 50-year-old woman who presented with palpitations and dizziness and had complete left bundle branch block on electrocardiogram (ECG); echocardiogram was normal. Electrophysiologic analysis revealed a prolonged His-ventricle interval of 80 ms and inducible atrioventricular nodal reentrant tachycardia; complete atrioventricular block occurred following atrial programmed stimulation and during induced tachycardia. Her brother was found to have bifascicular block (right bundle branch block and left anterior hemiblock), whereas their mother had a normal ECG. The French proband was a 53-year-old man who presented with chest pain but had normal coronary angiography and echocardiography; ECG revealed ST segment elevation typical of Brugada syndrome as well as conduction abnormalities, including a prolonged PR interval of 220 ms and left anterior hemiblock. Ventricular fibrillation was induced by programmed electrical stimulation in the absence of drugs. A baseline ECG in his brother, who had no history of palpitations or syncope, showed left anterior hemiblock and minor ST segment elevation suggestive of Brugada syndrome (type II saddleback abnormalities); on flecainide challenge, the ST segment elevation was exacerbated but did not meet the criteria for a diagnostic (type I) pattern. Their sister had a normal ECG and a negative flecainide test, but her son was found to have right bundle branch block and type II Brugada syndrome after flecainide challenge. The Dutch proband was a 17-year-old girl who had right bundle branch block and a prolonged PR interval of 196 ms on ECG; echocardiography was normal and a flecainide test for Brugada syndrome was negative. Her father had a normal ECG and a negative flecainide test. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18464934" 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="#2" class="mim-tip-reference" title="Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R. <strong>Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.</strong> J. Clin. Invest. 118: 2260-2268, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18464934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18464934</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18464934[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI33891" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18464934">Watanabe et al. (2008)</a> analyzed the SCN1B gene in 282 probands with Brugada syndrome and 44 patients with conduction disease in whom mutation in the SCN5A gene (<a href="/entry/600163">600163</a>) had been excluded, and identified 3 mutations in 3 kindreds, 1 French, 1 Turkish, and 1 Dutch (<a href="/entry/600235#0003">600235.0003</a>, <a href="/entry/600235#0004">600235.0004</a>, and <a href="/entry/600235#0005">600235.0005</a>, respectively). The mutations were not found in 1,404 population controls. Functional studies showed that the sodium current was lower when Na(v)1.5 was coexpressed with these mutant SCN1B subunits than with wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18464934" 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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Antzelevitch, C., Brugada, P., Borggrefe, M., Brugada, J., Brugada, R., Corrado, D., Gussak, I., LeMarec, H., Nademanee, K., Perez Riera, A. R., Shimizu, W., Schulze-Bahr, E., Tan, H., Wilde, A.
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<strong>Brugada syndrome: report of the second consensus conference.</strong>
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Circulation 111: 659-670, 2005. Note: Erratum: Circulation 112: e74, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15655131/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15655131</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15655131" 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.0000152479.54298.51" target="_blank">Full Text</a>]
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Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R.
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<strong>Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.</strong>
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J. Clin. Invest. 118: 2260-2268, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18464934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18464934</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18464934[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18464934" 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 : 6/1/2009
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carol : 3/19/2014<br>mcolton : 3/14/2014<br>carol : 8/26/2013<br>carol : 12/15/2011<br>carol : 6/2/2009
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BRUGADA SYNDROME 5; BRGDA5
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Other entities represented in this entry:
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CARDIAC CONDUCTION DEFECT, NONSPECIFIC, INCLUDED
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<strong>ORPHA:</strong> 130, 871;
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<strong>DO:</strong> 0110222;
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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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19q13.11
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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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Cardiac conduction defect, nonspecific
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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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612838
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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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</span>
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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>
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</td>
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<td>
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<span class="mim-font">
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SCN1B
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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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600235
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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19q13.11
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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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Brugada syndrome 5
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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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612838
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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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</span>
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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>
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</td>
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<td>
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<span class="mim-font">
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SCN1B
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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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600235
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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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<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>TEXT</strong>
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</span>
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</h4>
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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 Brugada syndrome-5 (BRGDA5) and a nonspecific cardiac conduction defect are caused by heterozygous mutation in the SCN1B gene (600235) on chromosome 19q13.</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>Description</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>Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). </p><p>For a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 (601144).</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>Clinical Features</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">
|
|
<p>Watanabe et al. (2008) studied 3 kindreds with conduction abnormalities, 1 Turkish, 1 French, and 1 Dutch; none of the families had a history of syncope, sudden cardiac death, or epilepsy. The Turkish proband was a 50-year-old woman who presented with palpitations and dizziness and had complete left bundle branch block on electrocardiogram (ECG); echocardiogram was normal. Electrophysiologic analysis revealed a prolonged His-ventricle interval of 80 ms and inducible atrioventricular nodal reentrant tachycardia; complete atrioventricular block occurred following atrial programmed stimulation and during induced tachycardia. Her brother was found to have bifascicular block (right bundle branch block and left anterior hemiblock), whereas their mother had a normal ECG. The French proband was a 53-year-old man who presented with chest pain but had normal coronary angiography and echocardiography; ECG revealed ST segment elevation typical of Brugada syndrome as well as conduction abnormalities, including a prolonged PR interval of 220 ms and left anterior hemiblock. Ventricular fibrillation was induced by programmed electrical stimulation in the absence of drugs. A baseline ECG in his brother, who had no history of palpitations or syncope, showed left anterior hemiblock and minor ST segment elevation suggestive of Brugada syndrome (type II saddleback abnormalities); on flecainide challenge, the ST segment elevation was exacerbated but did not meet the criteria for a diagnostic (type I) pattern. Their sister had a normal ECG and a negative flecainide test, but her son was found to have right bundle branch block and type II Brugada syndrome after flecainide challenge. The Dutch proband was a 17-year-old girl who had right bundle branch block and a prolonged PR interval of 196 ms on ECG; echocardiography was normal and a flecainide test for Brugada syndrome was negative. Her father had a normal ECG and a negative flecainide test. </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
|
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|
|
|
|
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<span class="mim-text-font">
|
|
<p>Watanabe et al. (2008) analyzed the SCN1B gene in 282 probands with Brugada syndrome and 44 patients with conduction disease in whom mutation in the SCN5A gene (600163) had been excluded, and identified 3 mutations in 3 kindreds, 1 French, 1 Turkish, and 1 Dutch (600235.0003, 600235.0004, and 600235.0005, respectively). The mutations were not found in 1,404 population controls. Functional studies showed that the sodium current was lower when Na(v)1.5 was coexpressed with these mutant SCN1B subunits than with wildtype. </p>
|
|
</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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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Antzelevitch, C., Brugada, P., Borggrefe, M., Brugada, J., Brugada, R., Corrado, D., Gussak, I., LeMarec, H., Nademanee, K., Perez Riera, A. R., Shimizu, W., Schulze-Bahr, E., Tan, H., Wilde, A.
|
|
<strong>Brugada syndrome: report of the second consensus conference.</strong>
|
|
Circulation 111: 659-670, 2005. Note: Erratum: Circulation 112: e74, 2005.
|
|
|
|
|
|
[PubMed: 15655131]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1161/01.CIR.0000152479.54298.51]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R.
|
|
<strong>Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans.</strong>
|
|
J. Clin. Invest. 118: 2260-2268, 2008.
|
|
|
|
|
|
[PubMed: 18464934]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI33891]
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|
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</p>
|
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</li>
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|
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</ol>
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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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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill : 6/1/2009
|
|
</span>
|
|
</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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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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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">
|
|
<span class="mim-text-font">
|
|
carol : 03/19/2014<br>carol : 3/19/2014<br>mcolton : 3/14/2014<br>carol : 8/26/2013<br>carol : 12/15/2011<br>carol : 6/2/2009
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</span>
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