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Entry
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- #113900 - PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A
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- OMIM
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<div><a href="http://www.informatics.jax.org/disease/113900" 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 href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 283645003, 698249005<br />
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<strong>ORPHA:</strong> 871<br />
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<strong>DO:</strong> 0111074<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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113900
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</span>
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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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PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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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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PFHBIA<br />
|
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HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI<br />
|
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LENEGRE-LEV DISEASE<br />
|
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CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD<br />
|
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BUNDLE BRANCH BLOCK<br />
|
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HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBD
|
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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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<a id="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
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<span class="h3 mim-font">
|
|
HEART BLOCK, NONPROGRESSIVE, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
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<div>
|
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<span class="h4 mim-font">
|
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|
|
CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/181?start=-3&limit=10&highlight=181">
|
|
3p22.2
|
|
</a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Heart block, progressive, type IA
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113900"> 113900 </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>
|
|
<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">
|
|
SCN5A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600163"> 600163 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/181?start=-3&limit=10&highlight=181">
|
|
3p22.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Heart block, nonprogressive
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/113900"> 113900 </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">
|
|
SCN5A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600163"> 600163 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/113900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS113900" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/113900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/113900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bundle branch disease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861985</a>]</span><br /> -
|
|
Right bundle branch block <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164907000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164907000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/59118001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">59118001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/426.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">426.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344421</a>, <a href="https://bioportal.bioontology.org/search?q=C0085615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085615</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011712</a>]</span><br /> -
|
|
Left anterior or posterior hemiblock <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861986&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861986</a>]</span><br /> -
|
|
Complete heart block with broad RS complexes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861987&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861987</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Dyspnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267036007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267036007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230145002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230145002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.05</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013404</a>, <a href="https://bioportal.bioontology.org/search?q=C2024878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2024878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002094</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002094</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
|
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|
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|
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|
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|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Syncopal episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751534</a>]</span><br /> -
|
|
Stokes-Adams attacks <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271547004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271547004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001396&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001396</a>]</span><br /> -
|
|
Sudden death <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26636000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26636000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011071</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span><br /> -
|
|
Genetic heterogeneity (see <a href="/entry/604559">604559</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
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- Caused by mutations in the sodium channel, voltage-gated, type V, alpha polypeptide gene (SCN5A, <a href="/entry/600163#0009">600163.0009</a>)<br />
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<h5>
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Progressive familial heart block
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- <a href="/phenotypicSeries/PS113900">PS113900</a>
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- 4 Entries
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
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<a href="/geneMap/1/1547?start=-3&limit=10&highlight=1547"> 1q32 </a>
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<span class="mim-font">
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<a href="/entry/140400"> Progressive familial heart block, type II </a>
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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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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/140400"> 140400 </a>
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<a href="/entry/140400"> PFHB2 </a>
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<a href="/entry/140400"> 140400 </a>
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<a href="/geneMap/3/181?start=-3&limit=10&highlight=181"> 3p22.2 </a>
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<span class="mim-font">
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<a href="/entry/113900"> Heart block, nonprogressive </a>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/113900"> 113900 </a>
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<a href="/entry/600163"> SCN5A </a>
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<a href="/entry/600163"> 600163 </a>
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<a href="/geneMap/3/181?start=-3&limit=10&highlight=181"> 3p22.2 </a>
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<span class="mim-font">
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<a href="/entry/113900"> Heart block, progressive, type IA </a>
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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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/113900"> 113900 </a>
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<span class="mim-font">
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<a href="/entry/600163"> SCN5A </a>
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<span class="mim-font">
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<a href="/entry/600163"> 600163 </a>
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<a href="/geneMap/19/936?start=-3&limit=10&highlight=936"> 19q13.33 </a>
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<span class="mim-font">
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<a href="/entry/604559"> Progressive familial heart block, type IB </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/604559"> 604559 </a>
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<a href="/entry/606936"> TRPM4 </a>
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<a href="/entry/606936"> 606936 </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 progressive familial heart block type IA (PFHB1A) can be caused by mutation in the SCN5A gene (<a href="/entry/600163">600163</a>) on chromosome 3p21.</p>
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<strong>Description</strong>
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<p>Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block (<a href="#4" class="mim-tip-reference" title="Brink, A. J., Torrington, M. <strong>Progressive familial heart block--two types.</strong> S. Afr. Med. J. 52: 53-59, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/897853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">897853</a>]" pmid="897853">Brink and Torrington, 1977</a>; <a href="#28" class="mim-tip-reference" title="van der Merwe, P.-L., Weymar, H. W., Torrington, M., Brink, A. J. <strong>Progressive familial heart block. Part II. Clinical and ECG confirmation of progression: report on 4 cases.</strong> S. Afr. Med. J. 70: 356-357, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3750143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3750143</a>]" pmid="3750143">van der Merwe et al., 1986</a>; <a href="#29" class="mim-tip-reference" title="van der Merwe, P.-L., Weymar, H. W., Torrington, M., Brink, A. J. <strong>Progressive familial heart block (type I): a follow-up study after 10 years.</strong> S. Afr. Med. J. 73: 275-276, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3347879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3347879</a>]" pmid="3347879">van der Merwe et al., 1988</a>). It is defined on electrocardiogram by evidence of bundle branch disease, i.e., right bundle branch block, left anterior or posterior hemiblock, or complete heart block, with broad QRS complexes. Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block. These electrocardiographic features differentiate PFHB type I from progressive familial heart block type II (PFHBII, PFHB2; <a href="/entry/140400">140400</a>), in which the onset of complete heart block is associated with narrow complexes. Electrocardiographically the changes represent, respectively, bundle branch disease (PFHB1) and atrioventricular nodal disease with an atrioventricular block and an idionodal escape rhythm (PFHB2). PFHBI is manifested symptomatically when complete heart block supervenes, either with dyspnea, syncopal episodes, or sudden death. Treatment, which is best managed by regular electrocardiographic follow-up, is by the timely implantation of a pacemaker (<a href="#5" class="mim-tip-reference" title="Brink, P. A., Ferreira, A., Moolman, J. C., Weymar, H. W., van der Merwe, P.-L., Corfield, V. A. <strong>Gene for progressive familial heart block type I maps to chromosome 19q13.</strong> Circulation 91: 1633-1640, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7882468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7882468</a>] [<a href="https://doi.org/10.1161/01.cir.91.6.1633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7882468">Brink et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3347879+897853+7882468+3750143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Progressive Familial Heart Block Type I</em></strong></p><p>
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Progressive familial heart block type IB (PFHB1B; <a href="/entry/604559">604559</a>) is caused by mutation in the TRPM4 gene (<a href="/entry/606936">606936</a>) on chromosome 19q13.32.</p>
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<strong>Clinical Features</strong>
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<p>Progressive cardiac conduction defect (PCCD), also called Lenegre-Lev disease (<a href="#14" class="mim-tip-reference" title="Lenegre, J. <strong>The pathology of complete atrio-ventricular block.</strong> Prog. Cardiovasc. Dis. 6: 317-323, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14105712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14105712</a>] [<a href="https://doi.org/10.1016/s0033-0620(64)80005-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14105712">Lenegre, 1964</a>; <a href="#15" class="mim-tip-reference" title="Lev, M., Kinare, S. G., Pick, A. <strong>The pathogenesis of atrioventricular block in coronary disease.</strong> Circulation 42: 409-425, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5451227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5451227</a>] [<a href="https://doi.org/10.1161/01.cir.42.3.409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5451227">Lev et al., 1970</a>), is one of the most common cardiac conduction disturbances. It is characterized by progressive alteration of cardiac conduction through the His-Purkinje system with right or left bundle branch block and widening of QRS complexes, leading to complete atrioventricular block and causing syncope and sudden death. It represents the major cause of pacemaker implantation in the world (0.15 implantations per 1,000 inhabitants per year in developed countries). PCCD is considered a primary degenerative disease or an exaggerated aging process with sclerosis affecting only the conduction tissue. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14105712+5451227" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="DeForest, R. E. <strong>Four cases of 'benign' left bundle branch block in the same family.</strong> Am. Heart J. 51: 398-404, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13292336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13292336</a>] [<a href="https://doi.org/10.1016/0002-8703(56)90065-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13292336">DeForest (1956)</a> studied a kindred in which uncomplicated left bundle branch block occurred in 4 persons in 2 generations. <a href="#25" class="mim-tip-reference" title="Segall, H. N. <strong>Congenital arrhythmias and conduction abnormalities in a father and four children.</strong> Canad. Med. Assoc. J. 84: 1283-1296, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13749673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13749673</a>]" pmid="13749673">Segall (1961)</a> described an instance of father, son, and daughter (of French-Canadian and black intermixture) with right bundle branch block (RBBB) and repeated Stokes-Adams attacks with various atrial arrhythmias and ventricular extrasystoles. The father died at 74 years, 14 years after the first fainting episode. Two asymptomatic brothers showed the electrocardiographic changes of Wolff-Parkinson-White. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13749673+13292336" 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="Combrink, J. M., Davis, W. H., Snyman, H. W. <strong>Familial bundle branch block.</strong> Am. Heart J. 64: 397-400, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13880751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13880751</a>] [<a href="https://doi.org/10.1016/0002-8703(62)90156-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13880751">Combrink et al. (1962)</a> described a South African family in which the mother had RBBB and died at age 35 years in a Stokes-Adams attack. Of 4 children, 3 had RBBB. The mother's parents had both died suddenly in their 30s. One of her brothers was said to have a cardiac conduction disturbance, another had dextrocardia, while 3 other sibs were apparently normal. Follow-up of this kindred revealed RBBB in 1 of 7 grandchildren (<a href="#19" class="mim-tip-reference" title="Myburgh, D. P., Steenkamp, W. F., Combrink, J. M. <strong>Familial right bundle branch block. (Letter)</strong> S. Afr. Med. J. 58: 393 only, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7404161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7404161</a>]" pmid="7404161">Myburgh et al., 1980</a>). <a href="#26" class="mim-tip-reference" title="Steenkamp, W. F. J. <strong>Familial trifascicular block.</strong> Am. Heart J. 84: 758-760, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4669898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4669898</a>] [<a href="https://doi.org/10.1016/0002-8703(72)90067-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4669898">Steenkamp (1972)</a> described a South African family in which 6 of 17 members studied showed disturbance of rhythm or conduction. <a href="#4" class="mim-tip-reference" title="Brink, A. J., Torrington, M. <strong>Progressive familial heart block--two types.</strong> S. Afr. Med. J. 52: 53-59, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/897853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">897853</a>]" pmid="897853">Brink and Torrington (1977)</a> suggested that the disorder they referred to as progressive familial heart block type I is prevalent in South Africa and is the same disorder as that reported by <a href="#6" class="mim-tip-reference" title="Combrink, J. M., Davis, W. H., Snyman, H. W. <strong>Familial bundle branch block.</strong> Am. Heart J. 64: 397-400, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13880751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13880751</a>] [<a href="https://doi.org/10.1016/0002-8703(62)90156-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13880751">Combrink et al. (1962)</a> and <a href="#26" class="mim-tip-reference" title="Steenkamp, W. F. J. <strong>Familial trifascicular block.</strong> Am. Heart J. 84: 758-760, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4669898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4669898</a>] [<a href="https://doi.org/10.1016/0002-8703(72)90067-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4669898">Steenkamp (1972)</a>. Type I heart block in their description tends to have the pattern of a right bundle branch block and/or left anterior hemiblock, manifesting clinically when complete heart block supervenes with syncopal episodes, Stokes-Adams seizures, or sudden death. The risk to life appeared to be greatest at or soon after birth, during puberty and the early twenties, and again toward middle age. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7404161+13880751+897853+4669898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Greenspahn, B. R., Denes, P., Daniel, W., Rosen, K. M. <strong>Chronic bifascicular block: evaluation of familial factors.</strong> Ann. Intern. Med. 84: 521-525, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1275353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1275353</a>] [<a href="https://doi.org/10.7326/0003-4819-84-5-521" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1275353">Greenspahn et al. (1976)</a> presented evidence suggesting that a susceptibility to disorder in conduction that is expressed late in life is inherited. <a href="#16" class="mim-tip-reference" title="Lorber, A., Maisuls, E., Naschitz, J. <strong>Hereditary right axis deviation: electrocardiographic pattern of pseudo left posterior hemiblock and incomplete right bundle branch block.</strong> Int. J. Cardiol. 20: 399-402, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3170041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3170041</a>] [<a href="https://doi.org/10.1016/0167-5273(88)90295-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3170041">Lorber et al. (1988)</a> observed a father and 2 sons with an electrocardiographic pattern of pseudo left posterior hemiblock and incomplete right bundle branch block that resulted in right axis deviation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1275353+3170041" 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="#13" class="mim-tip-reference" title="Husson, G. S., Blackman, M. S., Rogers, M. C., Bharati, S., Levi, M. <strong>Familial congenital bundle branch system disease.</strong> Am. J. Cardiol. 32: 365-369, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4725592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4725592</a>] [<a href="https://doi.org/10.1016/s0002-9149(73)80148-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4725592">Husson et al. (1973)</a> reported a family in which a girl had complete heart block at age 2 years and died at age 10 with ventricular fibrillation. A brother had right bundle branch block at age 15 years and complete heart block at age 17. A sister, aged 17 years, had prolonged intraventricular conduction time with incomplete right bundle branch block. In this family, complete heart block and bundle branch block were expressions of the same genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4725592" 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 French family with Lenegre-Lev disease, <a href="#24" class="mim-tip-reference" title="Schott, J.-J., Alshinawi, C., Kyndt, F., Probst, V., Hoorntje, T. M., Hulsbeek, M., Wilde, A. A. M., Escande, D., Mannens, M. M. A. M., Le Marec, H. <strong>Cardiac conduction defects associate with mutations in SCN5A. (Letter)</strong> Nature Genet. 23: 20-21, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471492</a>] [<a href="https://doi.org/10.1038/12618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471492">Schott et al. (1999)</a> excluded linkage to the cardiac conduction defect locus on chromosome 19 and to other loci for inherited cardiac diseases associated with conduction defects. Because of the potential role of the sodium current in the infranodal conduction of the cardiac impulse, <a href="#24" class="mim-tip-reference" title="Schott, J.-J., Alshinawi, C., Kyndt, F., Probst, V., Hoorntje, T. M., Hulsbeek, M., Wilde, A. A. M., Escande, D., Mannens, M. M. A. M., Le Marec, H. <strong>Cardiac conduction defects associate with mutations in SCN5A. (Letter)</strong> Nature Genet. 23: 20-21, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471492</a>] [<a href="https://doi.org/10.1038/12618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471492">Schott et al. (1999)</a> analyzed the SCN5A gene and identified a splice site mutation (<a href="/entry/600163#0009">600163.0009</a>) in affected members of the French family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471492" 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 Dutch family with congenital nonprogressive conduction defect, <a href="#24" class="mim-tip-reference" title="Schott, J.-J., Alshinawi, C., Kyndt, F., Probst, V., Hoorntje, T. M., Hulsbeek, M., Wilde, A. A. M., Escande, D., Mannens, M. M. A. M., Le Marec, H. <strong>Cardiac conduction defects associate with mutations in SCN5A. (Letter)</strong> Nature Genet. 23: 20-21, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471492</a>] [<a href="https://doi.org/10.1038/12618" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471492">Schott et al. (1999)</a> identified a deletion in the SCN5A gene (<a href="/entry/600163#0010">600163.0010</a>). The authors suggested that, depending on the consequences of a mutation on the sodium channel characteristics, the resulting phenotype may be progressive or intermediate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471492" 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="#18" class="mim-tip-reference" title="Morquio, L. <strong>Sur une maladie infantile et familiale caracterisee par des modifications permanentes du pouls, des attaques syncopales et epileptiformes et la mort subite.</strong> Arch. Med. Enfants 4: 467-475, 1901."None>Morquio (1901)</a> and <a href="#20" class="mim-tip-reference" title="Osler, W. <strong>On the so-called Stokes-Adams disease.</strong> Lancet 162: 516-524, 1903. Note: Originally Volume II."None>Osler (1903)</a>, whose names are known in other connections, are credited with the earliest reports of familial disturbance in cardiac conduction. Although most reports of congenital heart block have concerned affected sibs (most of which may represent cases of congenital complete heart block due to circulating autoantibodies in the mother with lupus), 2 or more generations have been affected often enough to prove dominant inheritance of one or more forms (<a href="#9" class="mim-tip-reference" title="Fulton, Z. M. K., Judson, C. F., Norris, G. W. <strong>Congenital heart block occurring in a father and two children, one an infant.</strong> Am. J. Med. Sci. 140: 339-348, 1910."None>Fulton et al., 1910</a>; <a href="#30" class="mim-tip-reference" title="Wallgren, A., Winblad, S. <strong>Congenital heart-block.</strong> Acta Paediat. 20: 175-204, 1937."None>Wallgren and Winblad, 1937</a>; <a href="#31" class="mim-tip-reference" title="Wendkos, M. H., Study, R. S. <strong>Familial congenital complete A-V heart blocks.</strong> Am. Heart J. 34: 138-142, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20251319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20251319</a>] [<a href="https://doi.org/10.1016/0002-8703(47)90465-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20251319">Wendkos and Study, 1947</a>). Similarly, late-onset heart block may be heritable as a dominant; variability in expression is common. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20251319" 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 the family reported by <a href="#11" class="mim-tip-reference" title="Gazes, P. C., Culler, R. M., Taber, E., Kelly, T. E. <strong>Congenital familial cardiac conduction defects.</strong> Circulation 32: 32-34, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14314488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14314488</a>] [<a href="https://doi.org/10.1161/01.cir.32.1.32" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14314488">Gazes et al. (1965)</a>, conduction disturbances occurred in 3 or 4 generations. In most of the affected persons the heart block was of second degree with episodes of third-degree (complete) atrioventricular dissociation, leading to Adams-Stokes seizures. The family of <a href="#31" class="mim-tip-reference" title="Wendkos, M. H., Study, R. S. <strong>Familial congenital complete A-V heart blocks.</strong> Am. Heart J. 34: 138-142, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20251319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20251319</a>] [<a href="https://doi.org/10.1016/0002-8703(47)90465-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20251319">Wendkos and Study (1947)</a> consisted of a father with the Wolff-Parkinson-White syndrome and 2 offspring with congenital complete heart block. In the family reported by <a href="#9" class="mim-tip-reference" title="Fulton, Z. M. K., Judson, C. F., Norris, G. W. <strong>Congenital heart block occurring in a father and two children, one an infant.</strong> Am. J. Med. Sci. 140: 339-348, 1910."None>Fulton et al. (1910)</a>, 3 to 1 block was thought to be present in the father, complete block in a 22-month-old son, and 2 to 1 block in a 20-year-old daughter. <a href="#2" class="mim-tip-reference" title="Amatller-Trias, A., Periz-Sague, A., Loran-Lleo, J. A., Oses, H. <strong>Bloqueo auriculo-ventricular de primer grado de tipo familiar.</strong> Med. Clin. 46: 27-34, 1966."None>Amatller-Trias et al. (1966)</a> described father (aged 43), son (aged 19) and daughter (aged 22) with first-degree heart block (prolonged PR interval). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20251319+14314488" 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="#22" class="mim-tip-reference" title="Sarachek, N. S., Leonard, J. J. <strong>Familial heart block and sinus bradycardia: classification and natural history.</strong> Am. J. Cardiol. 29: 451-458, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5016825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5016825</a>] [<a href="https://doi.org/10.1016/0002-9149(72)90432-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5016825">Sarachek and Leonard (1972)</a> reviewed 19 reports of familial bradycardia. Ten families had pure AV block, 6 had members with AV block or sinus bradycardia, and 3 had pure sinus bradycardia. Eight families had congenital heart block and 8 had onset in adulthood. <a href="#23" class="mim-tip-reference" title="Schaal, S. F., Seidensticker, J., Goodman, R. M., Wooley, C. F. <strong>Familial right bundle-branch block, left axis deviation, multiple heart block, and early death: a heritable disorder of cardiac conduction.</strong> Ann. Intern. Med. 79: 63-66, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4721176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4721176</a>] [<a href="https://doi.org/10.7326/0003-4819-79-1-63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4721176">Schaal et al. (1973)</a> studied the family of a 69-year-old woman with right bundle branch block and left axis deviation, who later developed complete heart block. Six relatives had heart block and 26 had abnormal electrocardiograms. First-degree heart block is a feature of a form of familial atrial septal defect and has been reported to precede more severe disturbances of AV conduction in cases of familial heart block (<a href="#21" class="mim-tip-reference" title="Paul, M. H., Rudolph, A. M., Nadas, A. S. <strong>Congenital complete atrioventricular block: problems of clinical assessment.</strong> Circulation 18: 183-190, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13561489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13561489</a>] [<a href="https://doi.org/10.1161/01.cir.18.2.183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13561489">Paul et al., 1958</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4721176+5016825+13561489" 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="#10" class="mim-tip-reference" title="Gambetta, M., Weese, J., Ginsburg, M., Shapiro, D. <strong>Sick sinus syndrome in a patient with familial PR prolongation.</strong> Chest 64: 520-523, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4743961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4743961</a>] [<a href="https://doi.org/10.1378/chest.64.4.520" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4743961">Gambetta et al. (1973)</a> described a kindred in which 8 persons in 4 generations had prolonged PR interval. There was male-to-male transmission and 2 instances of skipped generation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4743961" 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="#8" class="mim-tip-reference" title="Fauchier, J. P., Latour, F., Charbonnier, B., Brochier, M. <strong>Le bloc binodal idiopathique et familial de l'adulte.</strong> Arch. Mal. Coeur 72: 1059-1068, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/120710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">120710</a>]" pmid="120710">Fauchier et al. (1979)</a> described 4 brothers, with a maximal age difference of 20 years, who showed sinoatrial block, supra-hisian atrioventricular block, and paroxysmal atrial arrhythmias. The disorder had progressed to partial atrial standstill in the eldest. Left anterior hemiblock was also present in the 2 youngest brothers. The disorder was well tolerated. The authors referred to the disorder as familial idiopathic binodal block and supported autosomal dominant inheritance. Variable degrees of nonspecific fibrosis of the nodal and atrial tissues were thought to be present. See also cardiac conduction defect (<a href="/entry/115080">115080</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=120710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Barak, M., Herschkowitz, S., Shapiro, I., Roguin, N. <strong>Familial combined sinus node and atrioventricular conduction dysfunctions.</strong> Int. J. Cardiol. 15: 231-239, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3583460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3583460</a>] [<a href="https://doi.org/10.1016/0167-5273(87)90319-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3583460">Barak et al. (1987)</a> described studies of an instructive family ascertained through a fetus found to have second-degree AV block at 35 weeks of gestation. The conduction disturbance was diagnosed by ultrasonography. Seven of the family members were found to have sinus node dysfunction ('sick sinus syndrome') and/or various degrees of atrioventricular block. Three of them were children aged 9 months to 6 years, and all were asymptomatic. The symptomatic family members were 2 adults. One of them had a pacemaker inserted for a complete AV block and Adams-Stokes attacks, while the other had had several fainting attacks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3583460" 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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<span class="mim-text-font">
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<a href="#Amat-y-Leon1974" 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.">Amat-y-Leon et al. (1974)</a>; <a href="#Lynch1975" class="mim-tip-reference" title="Lynch, H. T., Mohiuddin, S., Moran, J., Kaplan, A., Sketch, M. H., Zencka, A., Runco, V. <strong>Hereditary progressive atrioventricular conduction defect.</strong> Am. J. Cardiol. 36: 297-301, 1975.">Lynch et al. (1975)</a>; <a href="#Stephan1985" class="mim-tip-reference" title="Stephan, E., Aftimos, G., Allam, C. <strong>Familial fascicular block: histologic features of Lev's disease.</strong> Am. Heart J. 109: 1399-1401, 1985.">Stephan et al.
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(1985)</a>; <a href="#Williams1972" 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.">Williams et al. (1972)</a>
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<strong>REFERENCES</strong>
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<a id="Amat-y-Leon1974" class="mim-anchor"></a>
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<div class="">
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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: <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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<a id="Amatller-Trias1966" class="mim-anchor"></a>
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Amatller-Trias, A., Periz-Sague, A., Loran-Lleo, J. A., Oses, H.
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<strong>Bloqueo auriculo-ventricular de primer grado de tipo familiar.</strong>
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<a id="Barak1987" class="mim-anchor"></a>
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Barak, M., Herschkowitz, S., Shapiro, I., Roguin, N.
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<strong>Familial combined sinus node and atrioventricular conduction dysfunctions.</strong>
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Int. J. Cardiol. 15: 231-239, 1987.
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[<a href="https://doi.org/10.1016/0167-5273(87)90319-6" target="_blank">Full Text</a>]
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<a id="Brink1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Brink, A. J., Torrington, M.
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<strong>Progressive familial heart block--two types.</strong>
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S. Afr. Med. J. 52: 53-59, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/897853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">897853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=897853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Brink1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Brink, P. A., Ferreira, A., Moolman, J. C., Weymar, H. W., van der Merwe, P.-L., Corfield, V. A.
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<strong>Gene for progressive familial heart block type I maps to chromosome 19q13.</strong>
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Circulation 91: 1633-1640, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7882468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7882468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7882468" 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.91.6.1633" target="_blank">Full Text</a>]
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<a id="Combrink1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Combrink, J. M., Davis, W. H., Snyman, H. W.
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<strong>Familial bundle branch block.</strong>
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Am. Heart J. 64: 397-400, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13880751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13880751</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13880751" 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(62)90156-4" target="_blank">Full Text</a>]
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<a id="DeForest1956" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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DeForest, R. E.
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<strong>Four cases of 'benign' left bundle branch block in the same family.</strong>
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Am. Heart J. 51: 398-404, 1956.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13292336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13292336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13292336" 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(56)90065-5" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Fauchier1979" class="mim-anchor"></a>
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Fauchier, J. P., Latour, F., Charbonnier, B., Brochier, M.
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<strong>Le bloc binodal idiopathique et familial de l'adulte.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/120710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">120710</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=120710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Fulton1910" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fulton, Z. M. K., Judson, C. F., Norris, G. W.
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<strong>Congenital heart block occurring in a father and two children, one an infant.</strong>
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Am. J. Med. Sci. 140: 339-348, 1910.
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<a id="Gambetta1973" class="mim-anchor"></a>
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<p class="mim-text-font">
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Gambetta, M., Weese, J., Ginsburg, M., Shapiro, D.
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<strong>Sick sinus syndrome in a patient with familial PR prolongation.</strong>
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Chest 64: 520-523, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4743961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4743961</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4743961" 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/10.1378/chest.64.4.520" target="_blank">Full Text</a>]
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<a id="Gazes1965" class="mim-anchor"></a>
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<div class="">
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Gazes, P. C., Culler, R. M., Taber, E., Kelly, T. E.
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<strong>Congenital familial cardiac conduction defects.</strong>
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Circulation 32: 32-34, 1965.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14314488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14314488</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14314488" 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.32.1.32" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Greenspahn1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Greenspahn, B. R., Denes, P., Daniel, W., Rosen, K. M.
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<strong>Chronic bifascicular block: evaluation of familial factors.</strong>
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Ann. Intern. Med. 84: 521-525, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1275353/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1275353</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1275353" 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/10.7326/0003-4819-84-5-521" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Husson1973" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Husson, G. S., Blackman, M. S., Rogers, M. C., Bharati, S., Levi, M.
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<strong>Familial congenital bundle branch system disease.</strong>
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Am. J. Cardiol. 32: 365-369, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4725592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4725592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4725592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0002-9149(73)80148-1" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Lenegre1964" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lenegre, J.
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<strong>The pathology of complete atrio-ventricular block.</strong>
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Prog. Cardiovasc. Dis. 6: 317-323, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14105712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14105712</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14105712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0033-0620(64)80005-0" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Lev1970" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lev, M., Kinare, S. G., Pick, A.
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<strong>The pathogenesis of atrioventricular block in coronary disease.</strong>
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Circulation 42: 409-425, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5451227/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5451227</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5451227" 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.42.3.409" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Lorber1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lorber, A., Maisuls, E., Naschitz, J.
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<strong>Hereditary right axis deviation: electrocardiographic pattern of pseudo left posterior hemiblock and incomplete right bundle branch block.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3170041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3170041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3170041" 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/10.1016/0167-5273(88)90295-1" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Lynch1975" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lynch, H. T., Mohiuddin, S., Moran, J., Kaplan, A., Sketch, M. H., Zencka, A., Runco, V.
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<strong>Hereditary progressive atrioventricular conduction defect.</strong>
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Am. J. Cardiol. 36: 297-301, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1166834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1166834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1166834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9149(75)90479-8" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Morquio1901" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Morquio, L.
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<strong>Sur une maladie infantile et familiale caracterisee par des modifications permanentes du pouls, des attaques syncopales et epileptiformes et la mort subite.</strong>
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Arch. Med. Enfants 4: 467-475, 1901.
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</p>
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<a id="19" class="mim-anchor"></a>
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<a id="Myburgh1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Myburgh, D. P., Steenkamp, W. F., Combrink, J. M.
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<strong>Familial right bundle branch block. (Letter)</strong>
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S. Afr. Med. J. 58: 393 only, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7404161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7404161</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7404161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<a id="20" class="mim-anchor"></a>
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<a id="Osler1903" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Osler, W.
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<strong>On the so-called Stokes-Adams disease.</strong>
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Lancet 162: 516-524, 1903. Note: Originally Volume II.
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</p>
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<a id="21" class="mim-anchor"></a>
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<a id="Paul1958" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Paul, M. H., Rudolph, A. M., Nadas, A. S.
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<strong>Congenital complete atrioventricular block: problems of clinical assessment.</strong>
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Circulation 18: 183-190, 1958.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13561489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13561489</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13561489" 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.18.2.183" target="_blank">Full Text</a>]
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Sarachek1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sarachek, N. S., Leonard, J. J.
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<strong>Familial heart block and sinus bradycardia: classification and natural history.</strong>
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Am. J. Cardiol. 29: 451-458, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5016825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5016825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5016825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9149(72)90432-8" target="_blank">Full Text</a>]
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Schaal1973" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schaal, S. F., Seidensticker, J., Goodman, R. M., Wooley, C. F.
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<strong>Familial right bundle-branch block, left axis deviation, multiple heart block, and early death: a heritable disorder of cardiac conduction.</strong>
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Ann. Intern. Med. 79: 63-66, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4721176/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4721176</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4721176" 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/10.7326/0003-4819-79-1-63" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Schott1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schott, J.-J., Alshinawi, C., Kyndt, F., Probst, V., Hoorntje, T. M., Hulsbeek, M., Wilde, A. A. M., Escande, D., Mannens, M. M. A. M., Le Marec, H.
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<strong>Cardiac conduction defects associate with mutations in SCN5A. (Letter)</strong>
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Nature Genet. 23: 20-21, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10471492" 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/10.1038/12618" target="_blank">Full Text</a>]
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Segall1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Segall, H. N.
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<strong>Congenital arrhythmias and conduction abnormalities in a father and four children.</strong>
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Canad. Med. Assoc. J. 84: 1283-1296, 1961.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13749673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13749673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13749673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Steenkamp1972" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Steenkamp, W. F. J.
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<strong>Familial trifascicular block.</strong>
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Am. Heart J. 84: 758-760, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4669898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4669898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4669898" 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(72)90067-1" target="_blank">Full Text</a>]
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<li>
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<a id="27" class="mim-anchor"></a>
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<a id="Stephan1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stephan, E., Aftimos, G., Allam, C.
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<strong>Familial fascicular block: histologic features of Lev's disease.</strong>
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Am. Heart J. 109: 1399-1401, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4003252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4003252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4003252" 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(85)90377-1" target="_blank">Full Text</a>]
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</li>
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<li>
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<a id="28" class="mim-anchor"></a>
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<a id="van der Merwe1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van der Merwe, P.-L., Weymar, H. W., Torrington, M., Brink, A. J.
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<strong>Progressive familial heart block. Part II. Clinical and ECG confirmation of progression: report on 4 cases.</strong>
|
|
S. Afr. Med. J. 70: 356-357, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3750143/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3750143</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3750143" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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<li>
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<a id="29" class="mim-anchor"></a>
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<a id="van der Merwe1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van der Merwe, P.-L., Weymar, H. W., Torrington, M., Brink, A. J.
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<strong>Progressive familial heart block (type I): a follow-up study after 10 years.</strong>
|
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S. Afr. Med. J. 73: 275-276, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3347879/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3347879</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3347879" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="Wallgren1937" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wallgren, A., Winblad, S.
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<strong>Congenital heart-block.</strong>
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Acta Paediat. 20: 175-204, 1937.
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<a id="31" class="mim-anchor"></a>
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<a id="Wendkos1947" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wendkos, M. H., Study, R. S.
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<strong>Familial congenital complete A-V heart blocks.</strong>
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Am. Heart J. 34: 138-142, 1947.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20251319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20251319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20251319" 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(47)90465-1" target="_blank">Full Text</a>]
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="Williams1972" class="mim-anchor"></a>
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<div class="">
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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: <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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</p>
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</ol>
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<div>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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 : 4/2/2010
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 - updated : 5/16/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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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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carol : 06/13/2019
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<span class="mim-text-font">
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carol : 04/02/2010<br>terry : 4/2/2010<br>terry : 1/12/2009<br>wwang : 10/21/2008<br>carol : 11/15/2007<br>alopez : 10/4/2007<br>carol : 8/23/2006<br>carol : 8/23/2006<br>terry : 2/19/2004<br>ckniffin : 9/24/2003<br>alopez : 9/5/2002<br>alopez : 3/8/2002<br>alopez : 3/8/2002<br>mgross : 2/16/2000<br>terry : 7/31/1998<br>alopez : 6/26/1997<br>alopez : 6/10/1997<br>alopez : 5/20/1997<br>terry : 5/16/1997<br>mark : 5/11/1995<br>terry : 5/13/1994<br>mimadm : 4/9/1994<br>carol : 10/26/1993<br>supermim : 3/16/1992<br>carol : 1/8/1991
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<span class="mim-font">
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<strong>#</strong> 113900
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<div>
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<h3>
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<span class="mim-font">
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PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA; PFHB1A
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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PFHBIA<br />
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HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; PFHBI<br />
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LENEGRE-LEV DISEASE<br />
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CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PCCD<br />
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BUNDLE BRANCH BLOCK<br />
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HEREDITARY BUNDLE BRANCH SYSTEM DEFECT; HBBD
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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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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HEART BLOCK, NONPROGRESSIVE, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 283645003, 698249005;
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<strong>ORPHA:</strong> 871;
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<strong>DO:</strong> 0111074;
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</span>
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</p>
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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>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 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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3p22.2
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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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Heart block, progressive, type IA
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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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113900
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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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Autosomal dominant
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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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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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600163
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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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3p22.2
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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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Heart block, nonprogressive
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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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113900
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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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Autosomal dominant
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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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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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600163
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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 progressive familial heart block type IA (PFHB1A) can be caused by mutation in the SCN5A gene (600163) on chromosome 3p21.</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>Progressive familial heart block type I (PFHBI, PFHB1) is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart block (Brink and Torrington, 1977; van der Merwe et al., 1986; van der Merwe et al., 1988). It is defined on electrocardiogram by evidence of bundle branch disease, i.e., right bundle branch block, left anterior or posterior hemiblock, or complete heart block, with broad QRS complexes. Progression has been shown from a normal electrocardiogram to right bundle branch block and from the latter to complete heart block. These electrocardiographic features differentiate PFHB type I from progressive familial heart block type II (PFHBII, PFHB2; 140400), in which the onset of complete heart block is associated with narrow complexes. Electrocardiographically the changes represent, respectively, bundle branch disease (PFHB1) and atrioventricular nodal disease with an atrioventricular block and an idionodal escape rhythm (PFHB2). PFHBI is manifested symptomatically when complete heart block supervenes, either with dyspnea, syncopal episodes, or sudden death. Treatment, which is best managed by regular electrocardiographic follow-up, is by the timely implantation of a pacemaker (Brink et al., 1995). </p><p><strong><em>Genetic Heterogeneity of Progressive Familial Heart Block Type I</em></strong></p><p>
|
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Progressive familial heart block type IB (PFHB1B; 604559) is caused by mutation in the TRPM4 gene (606936) on chromosome 19q13.32.</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">
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<p>Progressive cardiac conduction defect (PCCD), also called Lenegre-Lev disease (Lenegre, 1964; Lev et al., 1970), is one of the most common cardiac conduction disturbances. It is characterized by progressive alteration of cardiac conduction through the His-Purkinje system with right or left bundle branch block and widening of QRS complexes, leading to complete atrioventricular block and causing syncope and sudden death. It represents the major cause of pacemaker implantation in the world (0.15 implantations per 1,000 inhabitants per year in developed countries). PCCD is considered a primary degenerative disease or an exaggerated aging process with sclerosis affecting only the conduction tissue. </p><p>DeForest (1956) studied a kindred in which uncomplicated left bundle branch block occurred in 4 persons in 2 generations. Segall (1961) described an instance of father, son, and daughter (of French-Canadian and black intermixture) with right bundle branch block (RBBB) and repeated Stokes-Adams attacks with various atrial arrhythmias and ventricular extrasystoles. The father died at 74 years, 14 years after the first fainting episode. Two asymptomatic brothers showed the electrocardiographic changes of Wolff-Parkinson-White. </p><p>Combrink et al. (1962) described a South African family in which the mother had RBBB and died at age 35 years in a Stokes-Adams attack. Of 4 children, 3 had RBBB. The mother's parents had both died suddenly in their 30s. One of her brothers was said to have a cardiac conduction disturbance, another had dextrocardia, while 3 other sibs were apparently normal. Follow-up of this kindred revealed RBBB in 1 of 7 grandchildren (Myburgh et al., 1980). Steenkamp (1972) described a South African family in which 6 of 17 members studied showed disturbance of rhythm or conduction. Brink and Torrington (1977) suggested that the disorder they referred to as progressive familial heart block type I is prevalent in South Africa and is the same disorder as that reported by Combrink et al. (1962) and Steenkamp (1972). Type I heart block in their description tends to have the pattern of a right bundle branch block and/or left anterior hemiblock, manifesting clinically when complete heart block supervenes with syncopal episodes, Stokes-Adams seizures, or sudden death. The risk to life appeared to be greatest at or soon after birth, during puberty and the early twenties, and again toward middle age. </p><p>Greenspahn et al. (1976) presented evidence suggesting that a susceptibility to disorder in conduction that is expressed late in life is inherited. Lorber et al. (1988) observed a father and 2 sons with an electrocardiographic pattern of pseudo left posterior hemiblock and incomplete right bundle branch block that resulted in right axis deviation. </p><p>Husson et al. (1973) reported a family in which a girl had complete heart block at age 2 years and died at age 10 with ventricular fibrillation. A brother had right bundle branch block at age 15 years and complete heart block at age 17. A sister, aged 17 years, had prolonged intraventricular conduction time with incomplete right bundle branch block. In this family, complete heart block and bundle branch block were expressions of the same genotype. </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>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>In a French family with Lenegre-Lev disease, Schott et al. (1999) excluded linkage to the cardiac conduction defect locus on chromosome 19 and to other loci for inherited cardiac diseases associated with conduction defects. Because of the potential role of the sodium current in the infranodal conduction of the cardiac impulse, Schott et al. (1999) analyzed the SCN5A gene and identified a splice site mutation (600163.0009) in affected members of the French family. </p><p>In a Dutch family with congenital nonprogressive conduction defect, Schott et al. (1999) identified a deletion in the SCN5A gene (600163.0010). The authors suggested that, depending on the consequences of a mutation on the sodium channel characteristics, the resulting phenotype may be progressive or intermediate. </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>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Morquio (1901) and Osler (1903), whose names are known in other connections, are credited with the earliest reports of familial disturbance in cardiac conduction. Although most reports of congenital heart block have concerned affected sibs (most of which may represent cases of congenital complete heart block due to circulating autoantibodies in the mother with lupus), 2 or more generations have been affected often enough to prove dominant inheritance of one or more forms (Fulton et al., 1910; Wallgren and Winblad, 1937; Wendkos and Study, 1947). Similarly, late-onset heart block may be heritable as a dominant; variability in expression is common. </p><p>In the family reported by Gazes et al. (1965), conduction disturbances occurred in 3 or 4 generations. In most of the affected persons the heart block was of second degree with episodes of third-degree (complete) atrioventricular dissociation, leading to Adams-Stokes seizures. The family of Wendkos and Study (1947) consisted of a father with the Wolff-Parkinson-White syndrome and 2 offspring with congenital complete heart block. In the family reported by Fulton et al. (1910), 3 to 1 block was thought to be present in the father, complete block in a 22-month-old son, and 2 to 1 block in a 20-year-old daughter. Amatller-Trias et al. (1966) described father (aged 43), son (aged 19) and daughter (aged 22) with first-degree heart block (prolonged PR interval). </p><p>Sarachek and Leonard (1972) reviewed 19 reports of familial bradycardia. Ten families had pure AV block, 6 had members with AV block or sinus bradycardia, and 3 had pure sinus bradycardia. Eight families had congenital heart block and 8 had onset in adulthood. Schaal et al. (1973) studied the family of a 69-year-old woman with right bundle branch block and left axis deviation, who later developed complete heart block. Six relatives had heart block and 26 had abnormal electrocardiograms. First-degree heart block is a feature of a form of familial atrial septal defect and has been reported to precede more severe disturbances of AV conduction in cases of familial heart block (Paul et al., 1958). </p><p>Gambetta et al. (1973) described a kindred in which 8 persons in 4 generations had prolonged PR interval. There was male-to-male transmission and 2 instances of skipped generation. </p><p>Fauchier et al. (1979) described 4 brothers, with a maximal age difference of 20 years, who showed sinoatrial block, supra-hisian atrioventricular block, and paroxysmal atrial arrhythmias. The disorder had progressed to partial atrial standstill in the eldest. Left anterior hemiblock was also present in the 2 youngest brothers. The disorder was well tolerated. The authors referred to the disorder as familial idiopathic binodal block and supported autosomal dominant inheritance. Variable degrees of nonspecific fibrosis of the nodal and atrial tissues were thought to be present. See also cardiac conduction defect (115080). </p><p>Barak et al. (1987) described studies of an instructive family ascertained through a fetus found to have second-degree AV block at 35 weeks of gestation. The conduction disturbance was diagnosed by ultrasonography. Seven of the family members were found to have sinus node dysfunction ('sick sinus syndrome') and/or various degrees of atrioventricular block. Three of them were children aged 9 months to 6 years, and all were asymptomatic. The symptomatic family members were 2 adults. One of them had a pacemaker inserted for a complete AV block and Adams-Stokes attacks, while the other had had several fainting attacks. </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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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Amat-y-Leon et al. (1974); Lynch et al. (1975); Stephan et al.
|
|
(1985); Williams et al. (1972)
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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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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<div>
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<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
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.
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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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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Amatller-Trias, A., Periz-Sague, A., Loran-Lleo, J. A., Oses, H.
|
|
<strong>Bloqueo auriculo-ventricular de primer grado de tipo familiar.</strong>
|
|
Med. Clin. 46: 27-34, 1966.
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Barak, M., Herschkowitz, S., Shapiro, I., Roguin, N.
|
|
<strong>Familial combined sinus node and atrioventricular conduction dysfunctions.</strong>
|
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Int. J. Cardiol. 15: 231-239, 1987.
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[PubMed: 3583460]
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[Full Text: https://doi.org/10.1016/0167-5273(87)90319-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Brink, A. J., Torrington, M.
|
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<strong>Progressive familial heart block--two types.</strong>
|
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S. Afr. Med. J. 52: 53-59, 1977.
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[PubMed: 897853]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Brink, P. A., Ferreira, A., Moolman, J. C., Weymar, H. W., van der Merwe, P.-L., Corfield, V. A.
|
|
<strong>Gene for progressive familial heart block type I maps to chromosome 19q13.</strong>
|
|
Circulation 91: 1633-1640, 1995.
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[PubMed: 7882468]
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[Full Text: https://doi.org/10.1161/01.cir.91.6.1633]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Combrink, J. M., Davis, W. H., Snyman, H. W.
|
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<strong>Familial bundle branch block.</strong>
|
|
Am. Heart J. 64: 397-400, 1962.
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|
[PubMed: 13880751]
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[Full Text: https://doi.org/10.1016/0002-8703(62)90156-4]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
DeForest, R. E.
|
|
<strong>Four cases of 'benign' left bundle branch block in the same family.</strong>
|
|
Am. Heart J. 51: 398-404, 1956.
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|
[PubMed: 13292336]
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[Full Text: https://doi.org/10.1016/0002-8703(56)90065-5]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Fauchier, J. P., Latour, F., Charbonnier, B., Brochier, M.
|
|
<strong>Le bloc binodal idiopathique et familial de l'adulte.</strong>
|
|
Arch. Mal. Coeur 72: 1059-1068, 1979.
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[PubMed: 120710]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Fulton, Z. M. K., Judson, C. F., Norris, G. W.
|
|
<strong>Congenital heart block occurring in a father and two children, one an infant.</strong>
|
|
Am. J. Med. Sci. 140: 339-348, 1910.
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gambetta, M., Weese, J., Ginsburg, M., Shapiro, D.
|
|
<strong>Sick sinus syndrome in a patient with familial PR prolongation.</strong>
|
|
Chest 64: 520-523, 1973.
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[PubMed: 4743961]
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[Full Text: https://doi.org/10.1378/chest.64.4.520]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Gazes, P. C., Culler, R. M., Taber, E., Kelly, T. E.
|
|
<strong>Congenital familial cardiac conduction defects.</strong>
|
|
Circulation 32: 32-34, 1965.
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|
[PubMed: 14314488]
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[Full Text: https://doi.org/10.1161/01.cir.32.1.32]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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<strong>Familial congenital bundle branch system disease.</strong>
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<strong>Hereditary progressive atrioventricular conduction defect.</strong>
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Morquio, L.
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<strong>Sur une maladie infantile et familiale caracterisee par des modifications permanentes du pouls, des attaques syncopales et epileptiformes et la mort subite.</strong>
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Arch. Med. Enfants 4: 467-475, 1901.
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Myburgh, D. P., Steenkamp, W. F., Combrink, J. M.
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<strong>Familial right bundle branch block. (Letter)</strong>
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<p class="mim-text-font">
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Osler, W.
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<strong>On the so-called Stokes-Adams disease.</strong>
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Lancet 162: 516-524, 1903. Note: Originally Volume II.
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Paul, M. H., Rudolph, A. M., Nadas, A. S.
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<strong>Congenital complete atrioventricular block: problems of clinical assessment.</strong>
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Circulation 18: 183-190, 1958.
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[PubMed: 13561489]
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<p class="mim-text-font">
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Sarachek, N. S., Leonard, J. J.
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<strong>Familial heart block and sinus bradycardia: classification and natural history.</strong>
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Am. J. Cardiol. 29: 451-458, 1972.
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[PubMed: 5016825]
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Schaal, S. F., Seidensticker, J., Goodman, R. M., Wooley, C. F.
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<strong>Familial right bundle-branch block, left axis deviation, multiple heart block, and early death: a heritable disorder of cardiac conduction.</strong>
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Ann. Intern. Med. 79: 63-66, 1973.
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[PubMed: 4721176]
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Schott, J.-J., Alshinawi, C., Kyndt, F., Probst, V., Hoorntje, T. M., Hulsbeek, M., Wilde, A. A. M., Escande, D., Mannens, M. M. A. M., Le Marec, H.
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<strong>Congenital arrhythmias and conduction abnormalities in a father and four children.</strong>
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Steenkamp, W. F. J.
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<strong>Familial trifascicular block.</strong>
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Am. Heart J. 84: 758-760, 1972.
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[PubMed: 4669898]
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Stephan, E., Aftimos, G., Allam, C.
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<strong>Familial fascicular block: histologic features of Lev's disease.</strong>
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Am. Heart J. 109: 1399-1401, 1985.
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van der Merwe, P.-L., Weymar, H. W., Torrington, M., Brink, A. J.
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<strong>Progressive familial heart block. Part II. Clinical and ECG confirmation of progression: report on 4 cases.</strong>
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van der Merwe, P.-L., Weymar, H. W., Torrington, M., Brink, A. J.
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<strong>Progressive familial heart block (type I): a follow-up study after 10 years.</strong>
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[PubMed: 3347879]
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<p class="mim-text-font">
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Wallgren, A., Winblad, S.
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<strong>Congenital heart-block.</strong>
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Acta Paediat. 20: 175-204, 1937.
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</p>
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<li>
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<p class="mim-text-font">
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Wendkos, M. H., Study, R. S.
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<strong>Familial congenital complete A-V heart blocks.</strong>
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Am. Heart J. 34: 138-142, 1947.
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[PubMed: 20251319]
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[Full Text: https://doi.org/10.1016/0002-8703(47)90465-1]
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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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</p>
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Marla J. F. O'Neill - updated : 4/2/2010<br>Victor A. McKusick - updated : 5/16/1997
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