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<title>
Entry
- #611880 - CARDIOMYOPATHY, DILATED, 2A; CMD2A
- OMIM
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<span class="h4">#611880</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/611880"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS115200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(CARDIOMYOPATHY, DILATED) OR (TNNI3)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=635&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1309/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/8265" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611880[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=154" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
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<div style="display: table-cell;">Animal Models</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0110460" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/611880" 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>
<div><a href="https://omia.org/results?search_type=advanced&omia_id=000162,002331" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0110460" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
</div>
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<span>
<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.">
&nbsp;
</span>
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 154<br />
<strong>DO:</strong> 0110460<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
611880
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CARDIOMYOPATHY, DILATED, 2A; CMD2A
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE<br />
CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<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>
<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/19/1156?start=-3&limit=10&highlight=1156">
19q13.42
</a>
</span>
</td>
<td>
<span class="mim-font">
?Cardiomyopathy, dilated, 2A
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
</span>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611880"> 611880 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
TNNI3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> 191044 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<div class="btn-group ">
<a href="/clinicalSynopsis/611880" 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')">
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<a href="/phenotypicSeries/PS115200" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/611880" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/611880" 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 />
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<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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</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">
- Cardiomyopathy, dilated <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span><br /> -
Congestive heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42343007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42343007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/428.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001635" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001635</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset in second decade<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">
- Caused by mutation in the cardiac troponin I gene (TNNI3, <a href="/entry/191044#0009">191044.0009</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Dilated cardiomyopathy
- <a href="/phenotypicSeries/PS115200">PS115200</a>
- 60 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/75?start=-3&limit=10&highlight=75"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615373"> Left ventricular noncompaction 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615373"> 615373 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605557"> PRDM16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605557"> 605557 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/75?start=-3&limit=10&highlight=75"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615373"> Cardiomyopathy, dilated, 1LL </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615373"> 615373 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605557"> PRDM16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605557"> 605557 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/506?start=-3&limit=10&highlight=506"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618189"> Cardiomyopathy, dilated, 2C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618189"> 618189 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609853"> PPCS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609853"> 609853 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/740?start=-3&limit=10&highlight=740"> 1p31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613122"> Cardiomyopathy, dilated, 1CC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613122"> 613122 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613121"> NEXN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613121"> 613121 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1241?start=-3&limit=10&highlight=1241"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115200"> Cardiomyopathy, dilated, 1A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115200"> 115200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> LMNA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> 150330 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1564?start=-3&limit=10&highlight=1564"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601494"> Cardiomyopathy, dilated, 1D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601494"> 601494 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191045"> TNNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191045"> 191045 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1564?start=-3&limit=10&highlight=1564"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601494"> Left ventricular noncompaction 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601494"> 601494 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191045"> TNNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191045"> 191045 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1764?start=-3&limit=10&highlight=1764"> 1q42.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613697"> Cardiomyopathy, dilated, 1V </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613697"> 613697 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600759"> PSEN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600759"> 600759 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1829?start=-3&limit=10&highlight=1829"> 1q43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612158"> Cardiomyopathy, hypertrophic, 23, with or without LVNC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612158"> 612158 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> ACTN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> 102573 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1829?start=-3&limit=10&highlight=1829"> 1q43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612158"> Cardiomyopathy, dilated, 1AA, with or without LVNC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612158"> 612158 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> ACTN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102573"> 102573 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/566?start=-3&limit=10&highlight=566"> 2q14-q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604288"> Cardiomyopathy, dilated, 1H </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604288"> 604288 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604288"> CMD1H </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604288"> 604288 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604145"> Cardiomyopathy, dilated, 1G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604145"> 604145 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> TTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/188840"> 188840 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1040?start=-3&limit=10&highlight=1040"> 2q35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604765"> Cardiomyopathy, dilated, 1I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604765"> 604765 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> DES </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125660"> 125660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/70?start=-3&limit=10&highlight=70"> 3p25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615916"> Cardiomyopathy, dilated, 1NN </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615916"> 615916 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164760"> RAF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164760"> 164760 </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">
<a href="/entry/601154"> Cardiomyopathy, dilated, 1E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601154"> 601154 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600163"> SCN5A </a>
</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/3/377?start=-3&limit=10&highlight=377"> 3p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611879"> Cardiomyopathy, dilated, 1Z </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611879"> 611879 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191040"> TNNC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191040"> 191040 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/9?start=-3&limit=10&highlight=9"> 5p15.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613642"> Cardiomyopathy, dilated, 1GG </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613642"> 613642 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600857"> SDHA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600857"> 600857 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/704?start=-3&limit=10&highlight=704"> 5q33.2-q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606685"> Cardiomyopathy, dilated, 1L </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606685"> 606685 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601411"> SGCD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601411"> 601411 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/92?start=-3&limit=10&highlight=92"> 6p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620462"> Cardiomyopathy, dilated, 2I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620462"> 620462 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618385"> CAP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618385"> 618385 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/621?start=-3&limit=10&highlight=621"> 6q12-q16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605582"> Cardiomyopathy, dilated, 1K </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605582"> 605582 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605582"> CMD1K </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605582"> 605582 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/786?start=-3&limit=10&highlight=786"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615235"> Cardiomyopathy, dilated, 1JJ </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615235"> 615235 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600133"> LAMA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600133"> 600133 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/815?start=-3&limit=10&highlight=815"> 6q22.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609909"> Cardiomyopathy, dilated, 1P </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609909"> 609909 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172405"> PLN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/172405"> 172405 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/874?start=-3&limit=10&highlight=874"> 6q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605362"> ?Cardiomyopathy, dilated, 1J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605362"> 605362 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603550"> EYA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603550"> 603550 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/408?start=-3&limit=10&highlight=408"> 7q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614672"> ?Cardiomyopathy, dilated, 2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614672"> 614672 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614518"> GATAD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614518"> 614518 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/562?start=-3&limit=10&highlight=562"> 7q22.3-q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609915"> Cardiomyopathy, dilated, 1Q </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609915"> 609915 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609915"> CMD1Q </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609915"> 609915 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/630?start=-3&limit=10&highlight=630"> 7q31.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619897"> Cardiomyopathy, dilated, 2G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619897"> 619897 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608006"> LMOD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608006"> 608006 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/213?start=-3&limit=10&highlight=213"> 9q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600884"> Cardiomyopathy, dilated 1B </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600884"> 600884 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600884"> CMD1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600884"> 600884 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/389?start=-3&limit=10&highlight=389"> 9q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611615"> Cardiomyopathy, dilated, 1X </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611615"> 611615 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> FKTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607440"> 607440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> Cardiomyopathy, hypertrophic, 22 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> 615248 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> MYPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> 608517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> Cardiomyopathy, dilated, 1KK </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> 615248 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> MYPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> 608517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/239?start=-3&limit=10&highlight=239"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> Cardiomyopathy, familial restrictive, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615248"> 615248 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> MYPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608517"> 608517 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/312?start=-3&limit=10&highlight=312"> 10q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611407"> Cardiomyopathy, dilated, 1W </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611407"> 611407 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/193065"> VCL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/193065"> 193065 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> Cardiomyopathy, dilated, 1C, with or without LVNC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> Cardiomyopathy, hypertrophic, 24 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/355?start=-3&limit=10&highlight=355"> 10q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> Left ventricular noncompaction 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601493"> 601493 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> LDB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605906"> 605906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/560?start=-3&limit=10&highlight=560"> 10q25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613172"> Cardiomyopathy, dilated, 1DD </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613172"> 613172 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613171"> RBM20 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613171"> 613171 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613881"> Cardiomyopathy, dilated, 1HH </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613881"> 613881 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/233?start=-3&limit=10&highlight=233"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607482"> ?Cardiomyopathy, dilated, 1M </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607482"> 607482 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600824"> CSRP3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600824"> 600824 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/361?start=-3&limit=10&highlight=361"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615396"> Left ventricular noncompaction 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615396"> 615396 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600958"> MYBPC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600958"> 600958 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/361?start=-3&limit=10&highlight=361"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615396"> Cardiomyopathy, dilated, 1MM </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615396"> 615396 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600958"> MYBPC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600958"> 600958 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/925?start=-3&limit=10&highlight=925"> 11q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615184"> Cardiomyopathy, dilated, 1II </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615184"> 615184 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> CRYAB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123590"> 123590 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/230?start=-3&limit=10&highlight=230"> 12p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608569"> Cardiomyopathy, dilated, 1O </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608569"> 608569 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601439"> ABCC9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601439"> 601439 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/90?start=-3&limit=10&highlight=90"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613252"> Cardiomyopathy, dilated, 1EE </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613252"> 613252 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160710"> MYH6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160710"> 160710 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613426"> Cardiomyopathy, dilated, 1S </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613426"> 613426 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> MYH7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> 160760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/92?start=-3&limit=10&highlight=92"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613426"> Left ventricular noncompaction 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613426"> 613426 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> MYH7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160760"> 160760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/361?start=-3&limit=10&highlight=361"> 14q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613694"> ?Cardiomyopathy, dilated, 1U </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613694"> 613694 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/104311"> PSEN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/104311"> 104311 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/577?start=-3&limit=10&highlight=577"> 14q32.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619747"> Cardiomyopathy, dilated, 2F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619747"> 619747 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603885"> BAG5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603885"> 603885 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/78?start=-3&limit=10&highlight=78"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613424"> Left ventricular noncompaction 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613424"> 613424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102540"> ACTC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102540"> 102540 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/78?start=-3&limit=10&highlight=78"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613424"> Cardiomyopathy, dilated, 1R </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613424"> 613424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102540"> ACTC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102540"> 102540 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/269?start=-3&limit=10&highlight=269"> 15q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611878"> Left ventricular noncompaction 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611878"> 611878 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191010"> TPM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191010"> 191010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/269?start=-3&limit=10&highlight=269"> 15q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611878"> Cardiomyopathy, dilated, 1Y </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611878"> 611878 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191010"> TPM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191010"> 191010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/82?start=-3&limit=10&highlight=82"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619371"> Cardiomyopathy, dilated, 2D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619371"> 619371 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617416"> RPL3L </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617416"> 617416 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/281?start=-3&limit=10&highlight=281"> 17p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620635"> Cardiomyopathy, dilated, 2J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620635"> 620635 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600362"> FLII </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600362"> 600362 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/777?start=-3&limit=10&highlight=777"> 17q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620247"> ?Cardiomyopathy, dilated, 1OO </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620247"> 620247 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606747"> VEZF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606747"> 606747 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/118?start=-3&limit=10&highlight=118"> 18q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612877"> Cardiomyopathy, dilated, 1BB </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612877"> 612877 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125671"> DSG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/125671"> 125671 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/332?start=-3&limit=10&highlight=332"> 19p13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620203"> ?Cardiomyopathy, dilated, 2H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620203"> 620203 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601913"> GET3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601913"> 601913 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/1156?start=-3&limit=10&highlight=1156"> 19q13.42 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611880"> ?Cardiomyopathy, dilated, 2A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611880"> 611880 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> TNNI3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> 191044 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/1156?start=-3&limit=10&highlight=1156"> 19q13.42 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613286"> Cardiomyopathy, dilated, 1FF </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613286"> 613286 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> TNNI3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191044"> 191044 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/309?start=-3&limit=10&highlight=309"> 20q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619492"> Cardiomyopathy, dilated, 2E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619492"> 619492 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605267"> JPH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605267"> 605267 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/150?start=-3&limit=10&highlight=150"> Xp21.2-p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302045"> Cardiomyopathy, dilated, 3B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302045"> 302045 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300377"> DMD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300377"> 300377 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-2A (CMD2A) is caused by homozygous mutation in the gene encoding cardiac troponin I (TNNI3; <a href="/entry/191044">191044</a>) on chromosome 19q13. One such family has been reported.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see <a href="/entry/115200">115200</a>.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#3" class="mim-tip-reference" title="Goldblatt, J., Melmed, J., Rose, A. G. &lt;strong&gt;Autosomal recessive inheritance of idiopathic dilated cardiomyopathy in a Madeira Portuguese kindred.&lt;/strong&gt; Clin. Genet. 31: 249-254, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3594932/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3594932&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1987.tb02803.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3594932">Goldblatt et al. (1987)</a> described 3 members of a Madeira Portuguese family with dilated cardiomyopathy. The first patient presented at age 11 years with dyspnea and congestive heart failure and died 10 weeks later. A cousin was discovered to have cardiac abnormality on routine employment examination at age 20 years and died 14 months later in congestive heart failure. His sister presented at the age of 21 years with gradually diminishing effort tolerance. The brother and sister were the offspring of first-cousin parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3594932" 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="Seliem, M. A., Mansara, K. B., Palileo, M., Ye, X., Zhang, Z., Benson, D. W. &lt;strong&gt;Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia.&lt;/strong&gt; Pediat. Res. 48: 770-775, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11102545/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11102545&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-200012000-00012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11102545">Seliem et al. (2000)</a> described the natural history of dilated cardiomyopathy among infants of Arab descent from the Eastern Province of Saudi Arabia. They evaluated 55 consecutive cases of dilated cardiomyopathy in patients less than 10 years of age seen during a 5-year interval. Echocardiography was the primary diagnostic modality. The 55 cases represented 20% of the offspring of 41 families of Arab descent. In 19 families (46%), parents were first cousins; there was no obvious consanguinity in 22 families (54%). Age at presentation was less than 30 months (95%) (range, 1 to 100 months); males accounted for 38% of the patients. Forty-six percent of patients died, while 27% of patients either improved or recovered. The left ventricular shortening fraction at diagnosis ranged from 5 to 28% and was not correlated with outcome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102545" 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="#5" class="mim-tip-reference" title="Murphy, R. T., Mogensen, J., Shaw, A., Kubo, T., Hughes, S., McKenna, W. J. &lt;strong&gt;Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. (Letter)&lt;/strong&gt; Lancet 363: 371-372, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15070570/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15070570&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/S0140-6736(04)15468-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15070570">Murphy et al. (2004)</a> studied a family in which the proband presented at 27 years of age with a history of progressive cardiac failure. Echocardiography showed a dilated left ventricle with poor function and he underwent cardiac transplantation at age 28, at which time his left ventricle end-diastolic volume (LVEDV) was 7.1 cm and fractional shortening was 4%. Histologic examination of the explanted heart showed myofibrillar loss, hyperchromatic nuclei, and myocyte hypertrophy, but no myofibril or myocyte disarray. His sister presented with heart failure at 29 years of age, with an LVEDV of 5.1 cm and fractional shortening of 19%. His parents and another sib were healthy, with normal electrocardiograms and echocardiograms. No family member showed evidence of cardiac conduction disease or skeletal myopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15070570" 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>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#3" class="mim-tip-reference" title="Goldblatt, J., Melmed, J., Rose, A. G. &lt;strong&gt;Autosomal recessive inheritance of idiopathic dilated cardiomyopathy in a Madeira Portuguese kindred.&lt;/strong&gt; Clin. Genet. 31: 249-254, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3594932/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3594932&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1987.tb02803.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3594932">Goldblatt et al. (1987)</a> found 6 reports of families with congestive cardiomyopathy with a pedigree pattern consistent with autosomal recessive inheritance. These included the families of <a href="#1" class="mim-tip-reference" title="Battersby, E. J., Glenner, G. G. &lt;strong&gt;Familial cardiomyopathy.&lt;/strong&gt; Am. J. Med. 30: 382-391, 1961.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13687796/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13687796&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9343(61)90048-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13687796">Battersby and Glenner (1961)</a> and <a href="#4" class="mim-tip-reference" title="Kariv, I., Sherf, L., Solomon, M. &lt;strong&gt;Familial cardiomyopathy with special consideration of electrocardiographic and vectocardiographic findings.&lt;/strong&gt; Am. J. Cardiol. 13: 734-739, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14175529/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14175529&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9149(64)90422-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14175529">Kariv et al. (1964)</a>--see <a href="/entry/115200">115200</a>. An elevated rate of parental consanguinity and a horizontal pedigree pattern suggested autosomal recessive inheritance of dilated cardiomyopathy in Japanese families (<a href="#7" class="mim-tip-reference" title="Yamaguchi, M., Toshima, H. &lt;strong&gt;A genetic analysis of idiopathic cardiomyopathies in Japan.In: Sekiguchi, M.; Olsen, E. G. J. (eds.) : Cardiomyopathy: Clinical, Pathological, and Theoretical Aspects.&lt;/strong&gt; Baltimore: University Park Press (pub.) 1980. Pp. 421-429."None>Yamaguchi and Toshima, 1980</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13687796+14175529+3594932" 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="Seliem, M. A., Mansara, K. B., Palileo, M., Ye, X., Zhang, Z., Benson, D. W. &lt;strong&gt;Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia.&lt;/strong&gt; Pediat. Res. 48: 770-775, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11102545/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11102545&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1203/00006450-200012000-00012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11102545">Seliem et al. (2000)</a> evaluated the mode of inheritance of dilated cardiomyopathy among infants of Arab descent from the Eastern Province of Saudi Arabia. They evaluated 55 consecutive cases of dilated cardiomyopathy in patients less than 10 years of age seen during a 5-year interval. Complex segregation analysis of the family data, using the mixed model of inheritance, showed that a model of recessive inheritance best fit the data. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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</h4>
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<p>In 2 affected members of a family with dilated cardiomyopathy-2A, <a href="#5" class="mim-tip-reference" title="Murphy, R. T., Mogensen, J., Shaw, A., Kubo, T., Hughes, S., McKenna, W. J. &lt;strong&gt;Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. (Letter)&lt;/strong&gt; Lancet 363: 371-372, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15070570/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15070570&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/S0140-6736(04)15468-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15070570">Murphy et al. (2004)</a> identified homozygosity for a missense mutation (A2V; <a href="/entry/191044#0009">191044.0009</a>) in the TNNI3 gene. The unaffected parents and an unaffected sister were heterozygous for the mutation. The parents were unaware of any familial relationship, but haplotype analysis indicated remote consanguinity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15070570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Carballo, S., Robinson, P., Otway, R., Fatkin, D., Jongbloed, J. D. H., de Jonge, N., Blair, E., van Tintelen, J. P., Redwood, C., Watkins, H. &lt;strong&gt;Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.&lt;/strong&gt; Circ. Res. 105: 375-382, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19590045/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19590045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/CIRCRESAHA.109.196055&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19590045">Carballo et al. (2009)</a> cast doubt on the pathogenicity of the A2V mutation, stating that their analysis of the effect of A2V on ATPase regulation indicated that troponin function was not significantly altered. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19590045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<li>
<a id="1" class="mim-anchor"></a>
<a id="Battersby1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Battersby, E. J., Glenner, G. G.
<strong>Familial cardiomyopathy.</strong>
Am. J. Med. 30: 382-391, 1961.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13687796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13687796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13687796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9343(61)90048-1" target="_blank">Full Text</a>]
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Carballo2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Carballo, S., Robinson, P., Otway, R., Fatkin, D., Jongbloed, J. D. H., de Jonge, N., Blair, E., van Tintelen, J. P., Redwood, C., Watkins, H.
<strong>Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.</strong>
Circ. Res. 105: 375-382, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19590045/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19590045</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19590045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/CIRCRESAHA.109.196055" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Goldblatt1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goldblatt, J., Melmed, J., Rose, A. G.
<strong>Autosomal recessive inheritance of idiopathic dilated cardiomyopathy in a Madeira Portuguese kindred.</strong>
Clin. Genet. 31: 249-254, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3594932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3594932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3594932" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1987.tb02803.x" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Kariv1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kariv, I., Sherf, L., Solomon, M.
<strong>Familial cardiomyopathy with special consideration of electrocardiographic and vectocardiographic findings.</strong>
Am. J. Cardiol. 13: 734-739, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14175529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14175529</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14175529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9149(64)90422-9" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Murphy2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Murphy, R. T., Mogensen, J., Shaw, A., Kubo, T., Hughes, S., McKenna, W. J.
<strong>Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. (Letter)</strong>
Lancet 363: 371-372, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15070570/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15070570</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15070570" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/S0140-6736(04)15468-8" target="_blank">Full Text</a>]
</p>
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<a id="6" class="mim-anchor"></a>
<a id="Seliem2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Seliem, M. A., Mansara, K. B., Palileo, M., Ye, X., Zhang, Z., Benson, D. W.
<strong>Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia.</strong>
Pediat. Res. 48: 770-775, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102545</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1203/00006450-200012000-00012" target="_blank">Full Text</a>]
</p>
</div>
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<a id="7" class="mim-anchor"></a>
<a id="Yamaguchi1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yamaguchi, M., Toshima, H.
<strong>A genetic analysis of idiopathic cardiomyopathies in Japan.In: Sekiguchi, M.; Olsen, E. G. J. (eds.) : Cardiomyopathy: Clinical, Pathological, and Theoretical Aspects.</strong>
Baltimore: University Park Press (pub.) 1980. Pp. 421-429.
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<h3>
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<strong>#</strong> 611880
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<h3>
<span class="mim-font">
CARDIOMYOPATHY, DILATED, 2A; CMD2A
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE<br />
CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE
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<span class="mim-text-font">
<strong>ORPHA:</strong> 154; &nbsp;
<strong>DO:</strong> 0110460; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
<tr>
<td>
<span class="mim-font">
19q13.42
</span>
</td>
<td>
<span class="mim-font">
?Cardiomyopathy, dilated, 2A
</span>
</td>
<td>
<span class="mim-font">
611880
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
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</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
TNNI3
</span>
</td>
<td>
<span class="mim-font">
191044
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</tbody>
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<span class="mim-font">
<strong>TEXT</strong>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that dilated cardiomyopathy-2A (CMD2A) is caused by homozygous mutation in the gene encoding cardiac troponin I (TNNI3; 191044) on chromosome 19q13. One such family has been reported.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.</p>
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<div>
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<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>Goldblatt et al. (1987) described 3 members of a Madeira Portuguese family with dilated cardiomyopathy. The first patient presented at age 11 years with dyspnea and congestive heart failure and died 10 weeks later. A cousin was discovered to have cardiac abnormality on routine employment examination at age 20 years and died 14 months later in congestive heart failure. His sister presented at the age of 21 years with gradually diminishing effort tolerance. The brother and sister were the offspring of first-cousin parents. </p><p>Seliem et al. (2000) described the natural history of dilated cardiomyopathy among infants of Arab descent from the Eastern Province of Saudi Arabia. They evaluated 55 consecutive cases of dilated cardiomyopathy in patients less than 10 years of age seen during a 5-year interval. Echocardiography was the primary diagnostic modality. The 55 cases represented 20% of the offspring of 41 families of Arab descent. In 19 families (46%), parents were first cousins; there was no obvious consanguinity in 22 families (54%). Age at presentation was less than 30 months (95%) (range, 1 to 100 months); males accounted for 38% of the patients. Forty-six percent of patients died, while 27% of patients either improved or recovered. The left ventricular shortening fraction at diagnosis ranged from 5 to 28% and was not correlated with outcome. </p><p>Murphy et al. (2004) studied a family in which the proband presented at 27 years of age with a history of progressive cardiac failure. Echocardiography showed a dilated left ventricle with poor function and he underwent cardiac transplantation at age 28, at which time his left ventricle end-diastolic volume (LVEDV) was 7.1 cm and fractional shortening was 4%. Histologic examination of the explanted heart showed myofibrillar loss, hyperchromatic nuclei, and myocyte hypertrophy, but no myofibril or myocyte disarray. His sister presented with heart failure at 29 years of age, with an LVEDV of 5.1 cm and fractional shortening of 19%. His parents and another sib were healthy, with normal electrocardiograms and echocardiograms. No family member showed evidence of cardiac conduction disease or skeletal myopathy. </p>
</span>
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</div>
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<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Goldblatt et al. (1987) found 6 reports of families with congestive cardiomyopathy with a pedigree pattern consistent with autosomal recessive inheritance. These included the families of Battersby and Glenner (1961) and Kariv et al. (1964)--see 115200. An elevated rate of parental consanguinity and a horizontal pedigree pattern suggested autosomal recessive inheritance of dilated cardiomyopathy in Japanese families (Yamaguchi and Toshima, 1980). </p><p>Seliem et al. (2000) evaluated the mode of inheritance of dilated cardiomyopathy among infants of Arab descent from the Eastern Province of Saudi Arabia. They evaluated 55 consecutive cases of dilated cardiomyopathy in patients less than 10 years of age seen during a 5-year interval. Complex segregation analysis of the family data, using the mixed model of inheritance, showed that a model of recessive inheritance best fit the data. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 2 affected members of a family with dilated cardiomyopathy-2A, Murphy et al. (2004) identified homozygosity for a missense mutation (A2V; 191044.0009) in the TNNI3 gene. The unaffected parents and an unaffected sister were heterozygous for the mutation. The parents were unaware of any familial relationship, but haplotype analysis indicated remote consanguinity. </p><p>Carballo et al. (2009) cast doubt on the pathogenicity of the A2V mutation, stating that their analysis of the effect of A2V on ATPase regulation indicated that troponin function was not significantly altered. </p>
</span>
<div>
<br />
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<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Battersby, E. J., Glenner, G. G.
<strong>Familial cardiomyopathy.</strong>
Am. J. Med. 30: 382-391, 1961.
[PubMed: 13687796]
[Full Text: https://doi.org/10.1016/0002-9343(61)90048-1]
</p>
</li>
<li>
<p class="mim-text-font">
Carballo, S., Robinson, P., Otway, R., Fatkin, D., Jongbloed, J. D. H., de Jonge, N., Blair, E., van Tintelen, J. P., Redwood, C., Watkins, H.
<strong>Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.</strong>
Circ. Res. 105: 375-382, 2009.
[PubMed: 19590045]
[Full Text: https://doi.org/10.1161/CIRCRESAHA.109.196055]
</p>
</li>
<li>
<p class="mim-text-font">
Goldblatt, J., Melmed, J., Rose, A. G.
<strong>Autosomal recessive inheritance of idiopathic dilated cardiomyopathy in a Madeira Portuguese kindred.</strong>
Clin. Genet. 31: 249-254, 1987.
[PubMed: 3594932]
[Full Text: https://doi.org/10.1111/j.1399-0004.1987.tb02803.x]
</p>
</li>
<li>
<p class="mim-text-font">
Kariv, I., Sherf, L., Solomon, M.
<strong>Familial cardiomyopathy with special consideration of electrocardiographic and vectocardiographic findings.</strong>
Am. J. Cardiol. 13: 734-739, 1964.
[PubMed: 14175529]
[Full Text: https://doi.org/10.1016/0002-9149(64)90422-9]
</p>
</li>
<li>
<p class="mim-text-font">
Murphy, R. T., Mogensen, J., Shaw, A., Kubo, T., Hughes, S., McKenna, W. J.
<strong>Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. (Letter)</strong>
Lancet 363: 371-372, 2004.
[PubMed: 15070570]
[Full Text: https://doi.org/10.1016/S0140-6736(04)15468-8]
</p>
</li>
<li>
<p class="mim-text-font">
Seliem, M. A., Mansara, K. B., Palileo, M., Ye, X., Zhang, Z., Benson, D. W.
<strong>Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia.</strong>
Pediat. Res. 48: 770-775, 2000.
[PubMed: 11102545]
[Full Text: https://doi.org/10.1203/00006450-200012000-00012]
</p>
</li>
<li>
<p class="mim-text-font">
Yamaguchi, M., Toshima, H.
<strong>A genetic analysis of idiopathic cardiomyopathies in Japan.In: Sekiguchi, M.; Olsen, E. G. J. (eds.) : Cardiomyopathy: Clinical, Pathological, and Theoretical Aspects.</strong>
Baltimore: University Park Press (pub.) 1980. Pp. 421-429.
</p>
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Contributors:
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<span class="mim-text-font">
Marla J. F. O&#x27;Neill - updated : 2/26/2010
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Marla J. F. O&#x27;Neill : 3/5/2008
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
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OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
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Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
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