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<title>
Entry
- #613243 - CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13; CMH13
- OMIM
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<span class="h4">#613243</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/613243"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS192600"> <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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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC) OR (TNNC1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div 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><a href="https://www.alliancegenome.org/disease/DOID:0110319" 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/613243" 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.">
&nbsp;
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<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>DO:</strong> 0110319<br />
">ICD+</a>
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
613243
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<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13; CMH13
</span>
</h3>
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<div>
<br />
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<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/3/377?start=-3&limit=10&highlight=377">
3p21.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Cardiomyopathy, hypertrophic, 13
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613243"> 613243 </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">
TNNC1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191040"> 191040 </a>
</span>
</td>
</tr>
</tbody>
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<a href="/clinicalSynopsis/613243" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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&nbsp;
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<a href="/phenotypicSeries/PS192600" 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')">
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/613243" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/613243" 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">
- Dyspnea on exertion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60845006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60845006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231807</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002875</a>]</span><br /> -
Syncope, with or without exertion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478891</a>]</span><br /> -
Chest pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29857009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29857009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R07.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R07.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/786.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008031&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008031</a>, <a href="https://bioportal.bioontology.org/search?q=C2926613&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926613</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100749</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100749</a>]</span><br /> -
Left anterior hemiblock (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37760005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37760005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I44.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I44.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2215995&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2215995</a>, <a href="https://bioportal.bioontology.org/search?q=C0264912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011711" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011711</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011711" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011711</a>]</span><br /> -
Right bundle branch block (in some patients) <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 /> -
Atrial fibrillation (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49436004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49436004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164889003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164889003</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2926591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926591</a>, <a href="https://bioportal.bioontology.org/search?q=C0004238&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004238</a>, <a href="https://bioportal.bioontology.org/search?q=C0344434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344434</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005110</a>]</span><br /> -
Ventricular fibrillation (may be associated with physical or emotional stress) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478894&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478894</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/164896001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">164896001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71908006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71908006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I49.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I49.01</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/427.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">427.41</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001663</a>]</span><br /> -
Increased left ventricular wall thickness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478895&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478895</a>]</span><br /> -
Concentric hypertrophy of left ventricle (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0745681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0745681</a>]</span><br /> -
Asymmetric septal wall hypertrophy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478897&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478897</a>]</span><br /> -
Left ventricular outflow obstruction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253546004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253546004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023213&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023213</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032092" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032092</a>]</span><br /> -
Significant voltage criteria for biventricular hypertrophy seen on ECG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478898&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478898</a>]</span><br /> -
ST segment depression in anterior leads seen on ECG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478899</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">
- Variable age of onset from first to sixth decade of life<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 slow troponin C gene (TNNC1, <a href="/entry/191040#0002">191040.0002</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>
Cardiomyopathy, familial hypertrophic
- <a href="/phenotypicSeries/PS192600">PS192600</a>
- 37 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/1/740?start=-3&limit=10&highlight=740"> 1p31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613876"> Cardiomyopathy, hypertrophic, 20 </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/613876"> 613876 </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/1/1564?start=-3&limit=10&highlight=1564"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115195"> Cardiomyopathy, hypertrophic, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/115195"> 115195 </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/1/1829?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/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/2/823?start=-3&limit=10&highlight=823"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613765"> Cardiomyopathy, familial hypertrophic, 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/613765"> 613765 </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/3/27?start=-3&limit=10&highlight=27"> 3p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> Cardiomyopathy, familial hypertrophic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/192600"> 192600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601253"> CAV3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601253"> 601253 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/259?start=-3&limit=10&highlight=259"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608751"> Cardiomyopathy, hypertrophic, 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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/608751"> 608751 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160790"> MYL3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160790"> 160790 </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/613243"> Cardiomyopathy, hypertrophic, 13 </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/613243"> 613243 </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/3/901?start=-3&limit=10&highlight=901"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620236"> Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies </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/620236"> 620236 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611295"> KLHL24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611295"> 611295 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/193?start=-3&limit=10&highlight=193"> 4p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620734"> ?Cardiomyopathy, familial hypertrophic, 30, atrial </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/620734"> 620734 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605236"> CORIN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605236"> 605236 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/514?start=-3&limit=10&highlight=514"> 4q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613838"> Cardiomyopathy, hypertrophic, 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613838"> 613838 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605602"> MYOZ2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605602"> 605602 </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/613874"> Cardiomyopathy, hypertrophic, 18 </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/613874"> 613874 </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/7/265?start=-3&limit=10&highlight=265"> 7p12.1-q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614676"> Cardiomyopathy, hypertrophic, 21 </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/614676"> 614676 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614676"> CMH21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614676"> 614676 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> Cardiomyopathy, familial restrictive 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/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> Arrhythmogenic right ventricular dysplasia, familial </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/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/659?start=-3&limit=10&highlight=659"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617047"> Cardiomyopathy, familial hypertrophic, 26 </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/617047"> 617047 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> FLNC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/102565"> 102565 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/840?start=-3&limit=10&highlight=840"> 7q36.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600858"> Cardiomyopathy, hypertrophic 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/600858"> 600858 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602743"> PRKAG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602743"> 602743 </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/10/239?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/10/312?start=-3&limit=10&highlight=312"> 10q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613255"> Cardiomyopathy, hypertrophic, 15 </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/613255"> 613255 </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"> 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/10/355?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/11/233?start=-3&limit=10&highlight=233"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612124"> Cardiomyopathy, hypertrophic, 12 </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/612124"> 612124 </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/115197"> Cardiomyopathy, hypertrophic, 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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/115197"> 115197 </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/12/809?start=-3&limit=10&highlight=809"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608758"> Cardiomyopathy, hypertrophic, 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/608758"> 608758 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> MYL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/160781"> 160781 </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/613251"> Cardiomyopathy, hypertrophic, 14 </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/613251"> 613251 </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/192600"> Cardiomyopathy, hypertrophic, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/192600"> 192600 </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/15/78?start=-3&limit=10&highlight=78"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612098"> Cardiomyopathy, hypertrophic, 11 </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/612098"> 612098 </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/115196"> Cardiomyopathy, hypertrophic, 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/115196"> 115196 </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/15/472?start=-3&limit=10&highlight=472"> 15q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618052"> Cardiomyopathy, familial hypertrophic 27 </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/618052"> 618052 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617608"> ALPK3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617608"> 617608 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/488?start=-3&limit=10&highlight=488"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607487"> Cardiomyopathy, hypertrophic, 25 </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/607487"> 607487 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> TCAP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604488"> 604488 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/142?start=-3&limit=10&highlight=142"> 18q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619402"> Cardiomyopathy, familial hypertrophic, 28 </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/619402"> 619402 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609691"> FHOD3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609691"> 609691 </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/613690"> Cardiomyopathy, hypertrophic, 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613690"> 613690 </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/20/190?start=-3&limit=10&highlight=190"> 20q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192600"> Cardiomyopathy, hypertrophic, 1, digenic </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/192600"> 192600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606566"> MYLK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606566"> 606566 </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/613873"> Cardiomyopathy, hypertrophic, 17 </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/613873"> 613873 </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>
</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 familial hypertrophic cardiomyopathy-13 (CMH13) is caused by heterozygous mutation in the TNNC1 gene (<a href="/entry/191040">191040</a>) on chromosome 3p21.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see <a href="/entry/192600">192600</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="#4" class="mim-tip-reference" title="Parvatiyar, M. S., Landstrom, A. P., Figueiredo-Freitas, C., Potter, J. D., Ackerman, M. J., Pinto, J. R. &lt;strong&gt;A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.&lt;/strong&gt; J. Biol. Chem. 287: 31845-31855, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22815480/&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;22815480&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22815480[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M112.377713&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="22815480">Parvatiyar et al. (2012)</a> studied a 5-year-old boy who at 3.75 years of age survived an episode of ventricular fibrillation, then underwent implantation of an intracardioverter defibrillator (ICD) and was maintained on beta-blockers. He subsequently had 5 episodes of breakthrough ventricular fibrillation, generally when emotionally excited and physically active, with a single ICD shock restoring normal sinus rhythm in each case. Echocardiography showed asymmetric septal wall hypertrophy with a mean left ventricular wall thickness of 20 mm (normal, 6-8 mm) with reverse curve morphology, ejection fraction of 65%, diastolic dysfunction, with no left ventricular outflow obstruction. He had moderate left atrial enlargement, and ECG demonstrated significant voltage criteria for biventricular hypertrophy, ST segment depression in anterior leads, and borderline QT prolongation with a QTc of 460 ms. Family history was negative for CMH or sudden cardiac death, and both parents were negative for CMH by echocardiography. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22815480" 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="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In a 60-year-old German man who presented with dyspnea on exertion and was found to have concentric hypertrophic cardiomyopathy (CMH) of the left ventricle, with 15-mm thick septal and posterior walls, <a href="#2" class="mim-tip-reference" title="Hoffmann, B., Schmidt-Traub, H., Perrot, A., Osterziel, K. J., Gessner, R. &lt;strong&gt;First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.&lt;/strong&gt; Hum. Mutat. 17: 524 only, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11385718/&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;11385718&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.1143&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="11385718">Hoffmann et al. (2001)</a> identified a heterozygous mutation in the TNNC1 gene (L29Q; <a href="/entry/191040#0002">191040.0002</a>). No family members were available for study. The mutation was not found in 96 controls, but the authors stated that they could not determine whether this was a disease-causing variant. <a href="#5" class="mim-tip-reference" title="Schmidtmann, A., Lindow, C., Villard, S., Heuser, A., Mugge, A., Gessner, R., Granier, C., Jaquet, K. &lt;strong&gt;Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.&lt;/strong&gt; FEBS J. 272: 6087-6097, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16302972/&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;16302972&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1742-4658.2005.05001.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="16302972">Schmidtmann et al. (2005)</a> studied the structural and functional consequences of the L29Q substitution and demonstrated alteration of the dynamics of the actin-myosin interaction as well as impairment of PKA (see <a href="/entry/601639">601639</a>)-dependent signaling from cardiac TnI (<a href="/entry/191044">191044</a>) to cardiac TnC, resulting in an increased sensitivity to Ca(2+) when cardiac TnI is phosphorylated. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16302972+11385718" 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 108 consecutive CMH patients diagnosed by echocardiography, angiography, or findings after myectomy, <a href="#1" class="mim-tip-reference" title="Erdmann, J., Daehmlow, S., Wischke, S., Senyuva, M., Werner, U., Raible, J., Tanis, N., Dyachenko, S., Hummel, M., Hetzer, R., Regitz-Zagrosek, V. &lt;strong&gt;Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.&lt;/strong&gt; Clin. Genet. 64: 339-349, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12974739/&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;12974739&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.2003.00151.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="12974739">Erdmann et al. (2003)</a> screened for mutations in 6 sarcomeric genes, but did not identify any disease-causing mutations in the TNNC1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12974739" 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="Landstrom, A. P., Parvatiyar, M. S., Pinto, J. R., Marquardt, M. L., Bos, J. M., Tester, D. J., Ommen, S. R., Potter, J. D., Ackerman, M. J. &lt;strong&gt;Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.&lt;/strong&gt; J. Molec. Cell. Cardiol. 45: 281-288, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18572189/&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;18572189&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18572189[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.yjmcc.2008.05.003&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="18572189">Landstrom et al. (2008)</a> analyzed the TNNC1 gene in 1,025 unrelated patients who met the clinical criteria for CMH, with maximum left ventricular wall thickness of greater than 13 mm in the absence of other confounding diagnoses, and identified 4 heterozygous missense mutations in 4 Caucasian patients (see, e.g., <a href="/entry/191040#0003">191040.0003</a>-<a href="/entry/191040#0005">191040.0005</a>) who were negative for mutation in 15 known CMH-susceptibility genes. The mutations were not found in 400 Caucasian or 100 African American controls with normal screening ECGs and echocardiograms. <a href="#3" class="mim-tip-reference" title="Landstrom, A. P., Parvatiyar, M. S., Pinto, J. R., Marquardt, M. L., Bos, J. M., Tester, D. J., Ommen, S. R., Potter, J. D., Ackerman, M. J. &lt;strong&gt;Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.&lt;/strong&gt; J. Molec. Cell. Cardiol. 45: 281-288, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18572189/&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;18572189&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18572189[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.yjmcc.2008.05.003&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="18572189">Landstrom et al. (2008)</a> noted that the prevalence of TNNC1 mutations in their cohort was approximately 0.4%, comparable in frequency to those previously reported by <a href="#6" class="mim-tip-reference" title="Van Driest, S. L., Ellsworth, E. G., Ommen, S. R., Tajik, A. J., Gersh, B. J., Ackerman, M. J. &lt;strong&gt;Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.&lt;/strong&gt; Circulation 108: 445-451, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12860912/&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;12860912&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1161/01.CIR.0000080896.52003.DF&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="12860912">Van Driest et al. (2003)</a> for both alpha-tropomyosin (CMH3; <a href="/entry/115196">115196</a>) and actin (CMH11; <a href="/entry/612098">612098</a>) mutations in a cohort of 388 CMH patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12860912+18572189" 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 5-year-old boy with CMH and a history of ventricular fibrillation, <a href="#4" class="mim-tip-reference" title="Parvatiyar, M. S., Landstrom, A. P., Figueiredo-Freitas, C., Potter, J. D., Ackerman, M. J., Pinto, J. R. &lt;strong&gt;A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.&lt;/strong&gt; J. Biol. Chem. 287: 31845-31855, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22815480/&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;22815480&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22815480[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M112.377713&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="22815480">Parvatiyar et al. (2012)</a> analyzed 12 CMH-associated genes and identified heterozygosity for a missense mutation in the TNNC1 gene (A31S; <a href="/entry/191040#0006">191040.0006</a>). Functional analysis suggested that the A31S mutation has a direct effect on the Ca(2+) sensitivity of the myofilament, which may alter Ca(2+) handling and contribute to the arrhythmogenesis observed in the proband. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22815480" 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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<a id="1" class="mim-anchor"></a>
<a id="Erdmann2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Erdmann, J., Daehmlow, S., Wischke, S., Senyuva, M., Werner, U., Raible, J., Tanis, N., Dyachenko, S., Hummel, M., Hetzer, R., Regitz-Zagrosek, V.
<strong>Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.</strong>
Clin. Genet. 64: 339-349, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12974739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12974739</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12974739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1034/j.1399-0004.2003.00151.x" target="_blank">Full Text</a>]
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<a id="Hoffmann2001" class="mim-anchor"></a>
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<p class="mim-text-font">
Hoffmann, B., Schmidt-Traub, H., Perrot, A., Osterziel, K. J., Gessner, R.
<strong>First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.</strong>
Hum. Mutat. 17: 524 only, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11385718/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11385718</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11385718" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.1143" target="_blank">Full Text</a>]
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<a id="Landstrom2008" class="mim-anchor"></a>
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<p class="mim-text-font">
Landstrom, A. P., Parvatiyar, M. S., Pinto, J. R., Marquardt, M. L., Bos, J. M., Tester, D. J., Ommen, S. R., Potter, J. D., Ackerman, M. J.
<strong>Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.</strong>
J. Molec. Cell. Cardiol. 45: 281-288, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18572189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18572189</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18572189[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18572189" 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/j.yjmcc.2008.05.003" target="_blank">Full Text</a>]
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<a id="Parvatiyar2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Parvatiyar, M. S., Landstrom, A. P., Figueiredo-Freitas, C., Potter, J. D., Ackerman, M. J., Pinto, J. R.
<strong>A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.</strong>
J. Biol. Chem. 287: 31845-31855, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22815480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22815480</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22815480[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22815480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1074/jbc.M112.377713" target="_blank">Full Text</a>]
</p>
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<a id="Schmidtmann2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schmidtmann, A., Lindow, C., Villard, S., Heuser, A., Mugge, A., Gessner, R., Granier, C., Jaquet, K.
<strong>Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.</strong>
FEBS J. 272: 6087-6097, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16302972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16302972</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16302972" 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.1742-4658.2005.05001.x" target="_blank">Full Text</a>]
</p>
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<a id="Van Driest2003" class="mim-anchor"></a>
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<p class="mim-text-font">
Van Driest, S. L., Ellsworth, E. G., Ommen, S. R., Tajik, A. J., Gersh, B. J., Ackerman, M. J.
<strong>Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.</strong>
Circulation 108: 445-451, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12860912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12860912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12860912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1161/01.CIR.0000080896.52003.DF" target="_blank">Full Text</a>]
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Contributors:
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Marla J. F. O'Neill - updated : 11/30/2012
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Marla J. F. O&#x27;Neill : 2/3/2010
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carol : 12/04/2012
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terry : 11/30/2012<br>terry : 4/1/2010<br>wwang : 2/3/2010
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<strong>#</strong> 613243
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CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13; CMH13
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<strong>DO:</strong> 0110319; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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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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<span class="mim-font">
3p21.1
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Cardiomyopathy, hypertrophic, 13
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613243
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Autosomal dominant
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3
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TNNC1
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191040
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because familial hypertrophic cardiomyopathy-13 (CMH13) is caused by heterozygous mutation in the TNNC1 gene (191040) on chromosome 3p21.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see 192600.</p>
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<strong>Clinical Features</strong>
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<p>Parvatiyar et al. (2012) studied a 5-year-old boy who at 3.75 years of age survived an episode of ventricular fibrillation, then underwent implantation of an intracardioverter defibrillator (ICD) and was maintained on beta-blockers. He subsequently had 5 episodes of breakthrough ventricular fibrillation, generally when emotionally excited and physically active, with a single ICD shock restoring normal sinus rhythm in each case. Echocardiography showed asymmetric septal wall hypertrophy with a mean left ventricular wall thickness of 20 mm (normal, 6-8 mm) with reverse curve morphology, ejection fraction of 65%, diastolic dysfunction, with no left ventricular outflow obstruction. He had moderate left atrial enlargement, and ECG demonstrated significant voltage criteria for biventricular hypertrophy, ST segment depression in anterior leads, and borderline QT prolongation with a QTc of 460 ms. Family history was negative for CMH or sudden cardiac death, and both parents were negative for CMH by echocardiography. </p>
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<strong>Molecular Genetics</strong>
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<p>In a 60-year-old German man who presented with dyspnea on exertion and was found to have concentric hypertrophic cardiomyopathy (CMH) of the left ventricle, with 15-mm thick septal and posterior walls, Hoffmann et al. (2001) identified a heterozygous mutation in the TNNC1 gene (L29Q; 191040.0002). No family members were available for study. The mutation was not found in 96 controls, but the authors stated that they could not determine whether this was a disease-causing variant. Schmidtmann et al. (2005) studied the structural and functional consequences of the L29Q substitution and demonstrated alteration of the dynamics of the actin-myosin interaction as well as impairment of PKA (see 601639)-dependent signaling from cardiac TnI (191044) to cardiac TnC, resulting in an increased sensitivity to Ca(2+) when cardiac TnI is phosphorylated. </p><p>In 108 consecutive CMH patients diagnosed by echocardiography, angiography, or findings after myectomy, Erdmann et al. (2003) screened for mutations in 6 sarcomeric genes, but did not identify any disease-causing mutations in the TNNC1 gene. </p><p>Landstrom et al. (2008) analyzed the TNNC1 gene in 1,025 unrelated patients who met the clinical criteria for CMH, with maximum left ventricular wall thickness of greater than 13 mm in the absence of other confounding diagnoses, and identified 4 heterozygous missense mutations in 4 Caucasian patients (see, e.g., 191040.0003-191040.0005) who were negative for mutation in 15 known CMH-susceptibility genes. The mutations were not found in 400 Caucasian or 100 African American controls with normal screening ECGs and echocardiograms. Landstrom et al. (2008) noted that the prevalence of TNNC1 mutations in their cohort was approximately 0.4%, comparable in frequency to those previously reported by Van Driest et al. (2003) for both alpha-tropomyosin (CMH3; 115196) and actin (CMH11; 612098) mutations in a cohort of 388 CMH patients. </p><p>In a 5-year-old boy with CMH and a history of ventricular fibrillation, Parvatiyar et al. (2012) analyzed 12 CMH-associated genes and identified heterozygosity for a missense mutation in the TNNC1 gene (A31S; 191040.0006). Functional analysis suggested that the A31S mutation has a direct effect on the Ca(2+) sensitivity of the myofilament, which may alter Ca(2+) handling and contribute to the arrhythmogenesis observed in the proband. </p>
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<strong>REFERENCES</strong>
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Erdmann, J., Daehmlow, S., Wischke, S., Senyuva, M., Werner, U., Raible, J., Tanis, N., Dyachenko, S., Hummel, M., Hetzer, R., Regitz-Zagrosek, V.
<strong>Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.</strong>
Clin. Genet. 64: 339-349, 2003.
[PubMed: 12974739]
[Full Text: https://doi.org/10.1034/j.1399-0004.2003.00151.x]
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</li>
<li>
<p class="mim-text-font">
Hoffmann, B., Schmidt-Traub, H., Perrot, A., Osterziel, K. J., Gessner, R.
<strong>First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.</strong>
Hum. Mutat. 17: 524 only, 2001.
[PubMed: 11385718]
[Full Text: https://doi.org/10.1002/humu.1143]
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<li>
<p class="mim-text-font">
Landstrom, A. P., Parvatiyar, M. S., Pinto, J. R., Marquardt, M. L., Bos, J. M., Tester, D. J., Ommen, S. R., Potter, J. D., Ackerman, M. J.
<strong>Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.</strong>
J. Molec. Cell. Cardiol. 45: 281-288, 2008.
[PubMed: 18572189]
[Full Text: https://doi.org/10.1016/j.yjmcc.2008.05.003]
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</li>
<li>
<p class="mim-text-font">
Parvatiyar, M. S., Landstrom, A. P., Figueiredo-Freitas, C., Potter, J. D., Ackerman, M. J., Pinto, J. R.
<strong>A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation.</strong>
J. Biol. Chem. 287: 31845-31855, 2012.
[PubMed: 22815480]
[Full Text: https://doi.org/10.1074/jbc.M112.377713]
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<li>
<p class="mim-text-font">
Schmidtmann, A., Lindow, C., Villard, S., Heuser, A., Mugge, A., Gessner, R., Granier, C., Jaquet, K.
<strong>Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.</strong>
FEBS J. 272: 6087-6097, 2005.
[PubMed: 16302972]
[Full Text: https://doi.org/10.1111/j.1742-4658.2005.05001.x]
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<p class="mim-text-font">
Van Driest, S. L., Ellsworth, E. G., Ommen, S. R., Tajik, A. J., Gersh, B. J., Ackerman, M. J.
<strong>Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.</strong>
Circulation 108: 445-451, 2003.
[PubMed: 12860912]
[Full Text: https://doi.org/10.1161/01.CIR.0000080896.52003.DF]
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Marla J. F. O&#x27;Neill - updated : 11/30/2012
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Marla J. F. O&#x27;Neill : 2/3/2010
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Edit History:
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carol : 12/04/2012<br>terry : 11/30/2012<br>terry : 4/1/2010<br>wwang : 2/3/2010
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