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<title>
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Entry
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- #115210 - CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1
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- OMIM
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<span class="h4">#115210</span>
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<a href="#inheritance">Inheritance</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="http://www.informatics.jax.org/disease/115210" 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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<div><a href="https://omia.org/OMIA002331/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/search/disease/DOID:0111425 DOID:397" 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>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 75249<br />
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<strong>DO:</strong> 0111425, 397<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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115210
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</span>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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RCM
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
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<th>
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|
Location
|
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</th>
|
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<th>
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|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
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Gene/Locus
|
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</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/19/1156?start=-3&limit=10&highlight=1156">
|
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19q13.42
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Cardiomyopathy, familial restrictive, 1
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/115210"> 115210 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
TNNI3
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191044"> 191044 </a>
|
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</span>
|
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</td>
|
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</tr>
|
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
|
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|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/115210" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS115210" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/115210" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/115210" 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">
|
|
|
|
- Restrictive cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415295002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415295002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90828009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90828009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007196&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007196</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001723" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001723</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001723" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001723</a>]</span><br /> -
|
|
Palpitations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80313002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80313002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R00.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/785.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">785.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030252</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001962</a>]</span><br /> -
|
|
Syncope <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/272030005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">272030005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271594007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271594007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309585006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309585006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R55</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3541349&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3541349</a>, <a href="https://bioportal.bioontology.org/search?q=C0039070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039070</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007185" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007185</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001279</a>]</span><br /> -
|
|
Angina <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/194828000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">194828000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/225566008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">225566008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I20.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I20.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/413" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">413</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2024883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2024883</a>, <a href="https://bioportal.bioontology.org/search?q=C0002962&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002962</a>, <a href="https://bioportal.bioontology.org/search?q=C2926611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2926611</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001681" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001681</a>]</span><br /> -
|
|
Paroxysmal atrial fibrillation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282825002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282825002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I48.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I48.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235480</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004757</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004757</a>]</span><br /> -
|
|
Prominent P-waves <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542155&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542155</a>]</span><br /> -
|
|
Biatrial enlargement <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4748016&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4748016</a>]</span><br /> -
|
|
Restrictive filling pattern <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542156&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542156</a>]</span><br /> -
|
|
Reduced left ventricular end-diastolic dimension <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542157&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542157</a>]</span><br /> -
|
|
Heart failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84114007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84114007</a>, <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" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I50</a>, <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>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/428.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">428.9</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>, <a href="https://bioportal.bioontology.org/search?q=C0018801&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018801</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 /> -
|
|
Nonspecific interstitial fibrosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5542158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5542158</a>]</span><br /> -
|
|
Myofibrillar disarray <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314035&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314035</a>]</span><br /> -
|
|
Myocyte hypertrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150192&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150192</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dyspnea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267036007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267036007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230145002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230145002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.05</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013404</a>, <a href="https://bioportal.bioontology.org/search?q=C2024878&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2024878</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002094</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002094</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
</div>
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|
|
</div>
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|
</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Variable age of onset, from first decade to sixth decade of life<br /> -
|
|
Intrafamilial variability, with some family members exhibiting hypertrophic cardiomyopathy<br /> -
|
|
Sudden death may occur <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26636000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26636000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011071</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001699" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001699</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
<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-1 gene (TNNI3, <a href="/entry/191044#0005">191044.0005</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Familial restrictive cardiomyopathy
|
|
- <a href="/phenotypicSeries/PS115210">PS115210</a>
|
|
- 10 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/1/1564?start=-3&limit=10&highlight=1564"> 1q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612422"> Cardiomyopathy, familial restrictive, 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/612422"> 612422 </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/5/503?start=-3&limit=10&highlight=503"> 5q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619433"> ?Cardiomyopathy, familial restrictive, 6 </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/619433"> 619433 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605664"> KIF20A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605664"> 605664 </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/7/659?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/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">
|
|
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<p>A number sign (#) is used with this entry because of evidence that familial restrictive cardiomyopathy-1 (RCM1) is caused by heterozygous mutation in the gene encoding the cardiac muscle isoform of troponin I (TNNI3; <a href="/entry/191044">191044</a>) on chromosome 19q13.</p>
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<p>Restrictive cardiomyopathy (RCM) is a myocardial disease characterized by impaired ventricular filling and reduced diastolic volume in the presence of normal systolic function and normal or near-normal myocardial thickness. The disease is characterized by symptoms of progressive left- and right-sided heart failure. The overall prognosis is poor, especially when onset is in childhood, and patients often require cardiac transplantation (<a href="#9" class="mim-tip-reference" title="Mogensen, J., Kubo, T., Duque, M., Uribe, W., Shaw, A., Murphy, R., Gimeno, J. R., Elliott, P., McKenna, W. J. <strong>Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.</strong> J. Clin. Invest. 111: 209-216, 2003. Note: Erratum: J. Clin. Invest.: 111: 925 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12531876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12531876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12531876[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI16336" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12531876">Mogensen et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12531876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Familial Restrictive Cardiomyopathy</em></strong></p><p>
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Other forms of familial restrictive cardiomyopathy include RCM2 (<a href="/entry/609578">609578</a>), mapped to chromosome 10q23; RCM3 (<a href="/entry/612422">612422</a>), caused by mutation in the TNNT2 gene (<a href="/entry/191045">191045</a>) on chromosome 1q32; RCM4 (see <a href="/entry/615248">615248</a>), caused by mutation in the MYPN gene (<a href="/entry/608517">608517</a>) on chromosome 10q21; RCM5 (see <a href="/entry/617047">617047</a>), caused by mutation in the FLNC gene (<a href="/entry/102565">102565</a>) on chromosome 7q32; and RCM6 (<a href="/entry/619433">619433</a>), caused by mutation in the KIF20A gene (<a href="/entry/605664">605664</a>) on chromosome 5q31.</p>
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<p><a href="#1" class="mim-tip-reference" title="Aroney, C., Bett, N., Radford, D. <strong>Familial restrictive cardiomyopathy.</strong> Aust. New Zeal. J. Med. 18: 877-878, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2977941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2977941</a>] [<a href="https://doi.org/10.1111/j.1445-5994.1988.tb01654.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2977941">Aroney et al. (1988)</a> described father and daughter with idiopathic restrictive cardiomyopathy. The hemodynamic profile was characteristic, and there was echocardiographic evidence of diastolic dysfunction and atrial enlargement without ventricular dilatation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2977941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Kushwaha, S. S., Fallon, J. T., Fuster, V. <strong>Restrictive cardiomyopathy.</strong> New Eng. J. Med. 336: 267-276, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8995091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8995091</a>] [<a href="https://doi.org/10.1056/NEJM199701233360407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8995091">Kushwaha et al. (1997)</a> reviewed the evidence for a familial basis of idiopathic restrictive cardiomyopathy. <a href="#5" class="mim-tip-reference" title="Fitzpatrick, A. P., Shapiro, L. M., Rickards, A. F., Poole-Wilson, P. A. <strong>Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy.</strong> Brit. Heart J. 63: 114-118, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2317404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2317404</a>] [<a href="https://doi.org/10.1136/hrt.63.2.114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2317404">Fitzpatrick et al. (1990)</a> reported an Italian family in which autosomal dominant restrictive cardiomyopathy with atrial ventricular block and skeletal myopathy occurred in members of 5 generations. Symptoms developed in the third to fourth decade of life, with the eventual appearance of atrial ventricular block and skeletal muscle weakness. <a href="#7" class="mim-tip-reference" title="Katritsis, D., Wilmshurst, P. T., Wendon, J. A., Davies, M. J., Webb-Peploe, M. M. <strong>Primary restrictive cardiomyopathy: clinical and pathologic characteristics.</strong> J. Am. Coll. Cardiol. 18: 1230-1235, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1918700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1918700</a>] [<a href="https://doi.org/10.1016/0735-1097(91)90540-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1918700">Katritsis et al. (1991)</a> and <a href="#6" class="mim-tip-reference" title="Ishiwata, S., Nishiyama, S., Seki, A., Kojima, S. <strong>Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles.</strong> Jpn. Circ. J. 57: 928-933, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8371486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8371486</a>] [<a href="https://doi.org/10.1253/jcj.57.928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8371486">Ishiwata et al. (1993)</a> likewise described familial restrictive cardiomyopathy associated with distal skeletal myopathy. <a href="#4" class="mim-tip-reference" title="Feld, S., Caspi, A. <strong>Familial cardiomyopathy with variable hypertrophic and restrictive features and common HLA haplotype.</strong> Isr. J. Med. Sci. 28: 277-280, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1597356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1597356</a>]" pmid="1597356">Feld and Caspi (1992)</a> described familial cardiomyopathy with variable hypertrophic (see <a href="/entry/192600">192600</a>) and restrictive features. A familial nonhypertrophic restrictive cardiomyopathy with autosomal dominant inheritance and incomplete penetrance was described by <a href="#3" class="mim-tip-reference" title="Cooke, R. A., Chambers, J. B., Curry, P. V. <strong>Noonan's cardiomyopathy: a non-hypertrophic variant.</strong> Brit. Heart J. 71: 561-565, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8043339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8043339</a>] [<a href="https://doi.org/10.1136/hrt.71.6.561" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8043339">Cooke et al. (1994)</a> in association with Noonan syndrome (<a href="/entry/163950">163950</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8371486+2317404+1597356+8995091+1918700+8043339" 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="Chen, S., Balfour, I. C., Jureidini, S. <strong>Clinical spectrum of restrictive cardiomyopathy in children.</strong> J. Heart Lung Transplant. 20: 90-92, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11166616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11166616</a>] [<a href="https://doi.org/10.1016/s1053-2498(00)00162-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11166616">Chen et al. (2001)</a> reviewed the clinical spectrum of restrictive cardiomyopathy in 14 children, 7 of whom had familial cardiomyopathy. The patients were diagnosed from age 4 months to 17.3 years (mean, 7.8 years); presenting symptoms included dyspnea, pneumonia, syncope, ascites, inability to walk, and heart murmur, and some were screened due to positive family history. On electrocardiogram there was biatrial enlargement without significant dysrhythmia; chest x-ray showed cardiomegaly with pulmonary congestion, and 2 patients had pulmonary edema. Echocardiogram revealed marked dilation of the left atrium with normal-sized left ventricle (LV) and normal LV shortening fraction. Six patients had mid-septal bulging with an hourglass appearance of the LV on 4-chamber view, and 3 patients had mild apical LV hypertrophy. There was increased early diastolic filling and decreased atrial filling velocity by Doppler; reversal of pulmonary vein A-waves was common. Endomyocardial biopsy was performed in 11 patients and showed fibrosis with myocardial hypertrophy of various degrees in 7 patients, myofiber hypertrophy with increased number of mitochondria in 2, endocardial fibroelastosis in 1, and fibrosis with myocardial degeneration in 1 patient with eosinophilia. Autopsy in 1 patient showed mitochondrial abnormality with foamy myocardial transformation. Skeletal muscle biopsy was performed in 8 patients, but none had specific diagnostic findings. The clinical course was variable, although the majority of patients deteriorated rapidly: 5 patients died 1 week to 1.3 years after presentation (mean, 13.2 months), but 2 patients remained well for 8.3 and 9.1 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11166616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of RCM1 in the families reported by <a href="#9" class="mim-tip-reference" title="Mogensen, J., Kubo, T., Duque, M., Uribe, W., Shaw, A., Murphy, R., Gimeno, J. R., Elliott, P., McKenna, W. J. <strong>Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.</strong> J. Clin. Invest. 111: 209-216, 2003. Note: Erratum: J. Clin. Invest.: 111: 925 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12531876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12531876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12531876[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI16336" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12531876">Mogensen et al. (2003)</a> was consistent with autosomal dominant inheritance. Some of the mutations occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12531876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Mogensen, J., Kubo, T., Duque, M., Uribe, W., Shaw, A., Murphy, R., Gimeno, J. R., Elliott, P., McKenna, W. J. <strong>Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.</strong> J. Clin. Invest. 111: 209-216, 2003. Note: Erratum: J. Clin. Invest.: 111: 925 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12531876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12531876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12531876[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI16336" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12531876">Mogensen et al. (2003)</a> studied a large family in which individuals were affected by either idiopathic restrictive cardiomyopathy or hypertrophic cardiomyopathy. Linkage analysis to selected sarcomeric contractile protein genes identified TNNI3 as a likely disease gene. Mutation analysis revealed a novel missense mutation that cosegregated with the disease in the family (<a href="/entry/191044#0005">191044.0005</a>). <a href="#9" class="mim-tip-reference" title="Mogensen, J., Kubo, T., Duque, M., Uribe, W., Shaw, A., Murphy, R., Gimeno, J. R., Elliott, P., McKenna, W. J. <strong>Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.</strong> J. Clin. Invest. 111: 209-216, 2003. Note: Erratum: J. Clin. Invest.: 111: 925 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12531876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12531876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12531876[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI16336" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12531876">Mogensen et al. (2003)</a> investigated an additional 9 unrelated RCM patients with restrictive filling patterns, biallelic dilatation, normal systolic function, and normal wall thickness. TNNI3 mutations were identified in 6 of these 9 patients (see <a href="/entry/191044#0006">191044.0006</a>-<a href="/entry/191044#0008">191044.0008</a>). Two of the mutations identified in young individuals were de novo mutations. All mutations appeared in conserved and functionally important domains of the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12531876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Aroney1988" class="mim-anchor"></a>
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Aroney, C., Bett, N., Radford, D.
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<strong>Familial restrictive cardiomyopathy.</strong>
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[<a href="https://doi.org/10.1111/j.1445-5994.1988.tb01654.x" target="_blank">Full Text</a>]
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Chen, S., Balfour, I. C., Jureidini, S.
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<strong>Clinical spectrum of restrictive cardiomyopathy in children.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11166616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11166616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11166616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1053-2498(00)00162-5" target="_blank">Full Text</a>]
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Cooke, R. A., Chambers, J. B., Curry, P. V.
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<strong>Noonan's cardiomyopathy: a non-hypertrophic variant.</strong>
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Brit. Heart J. 71: 561-565, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8043339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8043339</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8043339" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/hrt.71.6.561" target="_blank">Full Text</a>]
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Feld, S., Caspi, A.
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<strong>Familial cardiomyopathy with variable hypertrophic and restrictive features and common HLA haplotype.</strong>
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Isr. J. Med. Sci. 28: 277-280, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1597356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1597356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1597356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Fitzpatrick, A. P., Shapiro, L. M., Rickards, A. F., Poole-Wilson, P. A.
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<strong>Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy.</strong>
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Brit. Heart J. 63: 114-118, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2317404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2317404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2317404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/hrt.63.2.114" target="_blank">Full Text</a>]
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Ishiwata, S., Nishiyama, S., Seki, A., Kojima, S.
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<strong>Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles.</strong>
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Jpn. Circ. J. 57: 928-933, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8371486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8371486</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8371486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1253/jcj.57.928" target="_blank">Full Text</a>]
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Katritsis, D., Wilmshurst, P. T., Wendon, J. A., Davies, M. J., Webb-Peploe, M. M.
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<strong>Primary restrictive cardiomyopathy: clinical and pathologic characteristics.</strong>
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J. Am. Coll. Cardiol. 18: 1230-1235, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1918700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1918700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1918700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0735-1097(91)90540-p" target="_blank">Full Text</a>]
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Kushwaha, S. S., Fallon, J. T., Fuster, V.
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<strong>Restrictive cardiomyopathy.</strong>
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New Eng. J. Med. 336: 267-276, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8995091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8995091</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8995091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJM199701233360407" target="_blank">Full Text</a>]
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Mogensen, J., Kubo, T., Duque, M., Uribe, W., Shaw, A., Murphy, R., Gimeno, J. R., Elliott, P., McKenna, W. J.
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<strong>Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.</strong>
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J. Clin. Invest. 111: 209-216, 2003. Note: Erratum: J. Clin. Invest.: 111: 925 only, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12531876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12531876</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12531876[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=12531876" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill - updated : 07/14/2021
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Marla J. F. O'Neill - updated : 07/25/2016<br>Marla J. F. O'Neill - updated : 11/20/2008<br>Marla J. F. O'Neill - updated : 2/7/2005<br>Victor A. McKusick - updated : 5/21/2003<br>Victor A. McKusick - updated : 5/21/2003<br>Victor A. McKusick - updated : 3/4/1997
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Victor A. McKusick : 6/8/1989
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alopez : 07/14/2021<br>alopez : 07/14/2021<br>carol : 07/25/2016<br>carol : 06/02/2016<br>carol : 5/24/2013<br>carol : 5/26/2011<br>terry : 10/12/2010<br>wwang : 2/26/2010<br>carol : 11/20/2008<br>terry : 11/20/2008<br>carol : 9/14/2005<br>tkritzer : 2/8/2005<br>terry : 2/7/2005<br>carol : 5/21/2003<br>carol : 5/21/2003<br>tkritzer : 5/21/2003<br>mark : 3/4/1997<br>jamie : 3/4/1997<br>terry : 3/3/1997<br>mimadm : 6/25/1994<br>carol : 4/7/1992<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>carol : 6/8/1989
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CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1
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RCM
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<strong>DO:</strong> 0111425, 397;
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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">
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19q13.42
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Cardiomyopathy, familial restrictive, 1
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<span class="mim-font">
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115210
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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TNNI3
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191044
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that familial restrictive cardiomyopathy-1 (RCM1) is caused by heterozygous mutation in the gene encoding the cardiac muscle isoform of troponin I (TNNI3; 191044) on chromosome 19q13.</p>
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<strong>Description</strong>
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<p>Restrictive cardiomyopathy (RCM) is a myocardial disease characterized by impaired ventricular filling and reduced diastolic volume in the presence of normal systolic function and normal or near-normal myocardial thickness. The disease is characterized by symptoms of progressive left- and right-sided heart failure. The overall prognosis is poor, especially when onset is in childhood, and patients often require cardiac transplantation (Mogensen et al., 2003). </p><p><strong><em>Genetic Heterogeneity of Familial Restrictive Cardiomyopathy</em></strong></p><p>
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Other forms of familial restrictive cardiomyopathy include RCM2 (609578), mapped to chromosome 10q23; RCM3 (612422), caused by mutation in the TNNT2 gene (191045) on chromosome 1q32; RCM4 (see 615248), caused by mutation in the MYPN gene (608517) on chromosome 10q21; RCM5 (see 617047), caused by mutation in the FLNC gene (102565) on chromosome 7q32; and RCM6 (619433), caused by mutation in the KIF20A gene (605664) on chromosome 5q31.</p>
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<strong>Clinical Features</strong>
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<p>Aroney et al. (1988) described father and daughter with idiopathic restrictive cardiomyopathy. The hemodynamic profile was characteristic, and there was echocardiographic evidence of diastolic dysfunction and atrial enlargement without ventricular dilatation. </p><p>Kushwaha et al. (1997) reviewed the evidence for a familial basis of idiopathic restrictive cardiomyopathy. Fitzpatrick et al. (1990) reported an Italian family in which autosomal dominant restrictive cardiomyopathy with atrial ventricular block and skeletal myopathy occurred in members of 5 generations. Symptoms developed in the third to fourth decade of life, with the eventual appearance of atrial ventricular block and skeletal muscle weakness. Katritsis et al. (1991) and Ishiwata et al. (1993) likewise described familial restrictive cardiomyopathy associated with distal skeletal myopathy. Feld and Caspi (1992) described familial cardiomyopathy with variable hypertrophic (see 192600) and restrictive features. A familial nonhypertrophic restrictive cardiomyopathy with autosomal dominant inheritance and incomplete penetrance was described by Cooke et al. (1994) in association with Noonan syndrome (163950). </p><p>Chen et al. (2001) reviewed the clinical spectrum of restrictive cardiomyopathy in 14 children, 7 of whom had familial cardiomyopathy. The patients were diagnosed from age 4 months to 17.3 years (mean, 7.8 years); presenting symptoms included dyspnea, pneumonia, syncope, ascites, inability to walk, and heart murmur, and some were screened due to positive family history. On electrocardiogram there was biatrial enlargement without significant dysrhythmia; chest x-ray showed cardiomegaly with pulmonary congestion, and 2 patients had pulmonary edema. Echocardiogram revealed marked dilation of the left atrium with normal-sized left ventricle (LV) and normal LV shortening fraction. Six patients had mid-septal bulging with an hourglass appearance of the LV on 4-chamber view, and 3 patients had mild apical LV hypertrophy. There was increased early diastolic filling and decreased atrial filling velocity by Doppler; reversal of pulmonary vein A-waves was common. Endomyocardial biopsy was performed in 11 patients and showed fibrosis with myocardial hypertrophy of various degrees in 7 patients, myofiber hypertrophy with increased number of mitochondria in 2, endocardial fibroelastosis in 1, and fibrosis with myocardial degeneration in 1 patient with eosinophilia. Autopsy in 1 patient showed mitochondrial abnormality with foamy myocardial transformation. Skeletal muscle biopsy was performed in 8 patients, but none had specific diagnostic findings. The clinical course was variable, although the majority of patients deteriorated rapidly: 5 patients died 1 week to 1.3 years after presentation (mean, 13.2 months), but 2 patients remained well for 8.3 and 9.1 years. </p>
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of RCM1 in the families reported by Mogensen et al. (2003) was consistent with autosomal dominant inheritance. Some of the mutations occurred de novo. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Mogensen et al. (2003) studied a large family in which individuals were affected by either idiopathic restrictive cardiomyopathy or hypertrophic cardiomyopathy. Linkage analysis to selected sarcomeric contractile protein genes identified TNNI3 as a likely disease gene. Mutation analysis revealed a novel missense mutation that cosegregated with the disease in the family (191044.0005). Mogensen et al. (2003) investigated an additional 9 unrelated RCM patients with restrictive filling patterns, biallelic dilatation, normal systolic function, and normal wall thickness. TNNI3 mutations were identified in 6 of these 9 patients (see 191044.0006-191044.0008). Two of the mutations identified in young individuals were de novo mutations. All mutations appeared in conserved and functionally important domains of the gene. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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<li>
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<p class="mim-text-font">
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Aroney, C., Bett, N., Radford, D.
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<strong>Familial restrictive cardiomyopathy.</strong>
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Aust. New Zeal. J. Med. 18: 877-878, 1988.
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[PubMed: 2977941]
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[Full Text: https://doi.org/10.1111/j.1445-5994.1988.tb01654.x]
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Chen, S., Balfour, I. C., Jureidini, S.
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<strong>Clinical spectrum of restrictive cardiomyopathy in children.</strong>
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J. Heart Lung Transplant. 20: 90-92, 2001.
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[PubMed: 11166616]
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[Full Text: https://doi.org/10.1016/s1053-2498(00)00162-5]
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<p class="mim-text-font">
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Cooke, R. A., Chambers, J. B., Curry, P. V.
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<strong>Noonan's cardiomyopathy: a non-hypertrophic variant.</strong>
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Brit. Heart J. 71: 561-565, 1994.
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[PubMed: 8043339]
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[Full Text: https://doi.org/10.1136/hrt.71.6.561]
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<li>
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<p class="mim-text-font">
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Feld, S., Caspi, A.
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<strong>Familial cardiomyopathy with variable hypertrophic and restrictive features and common HLA haplotype.</strong>
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Isr. J. Med. Sci. 28: 277-280, 1992.
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[PubMed: 1597356]
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<p class="mim-text-font">
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Fitzpatrick, A. P., Shapiro, L. M., Rickards, A. F., Poole-Wilson, P. A.
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<strong>Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy.</strong>
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Brit. Heart J. 63: 114-118, 1990.
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[PubMed: 2317404]
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[Full Text: https://doi.org/10.1136/hrt.63.2.114]
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<p class="mim-text-font">
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Ishiwata, S., Nishiyama, S., Seki, A., Kojima, S.
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<strong>Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles.</strong>
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Jpn. Circ. J. 57: 928-933, 1993.
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[PubMed: 8371486]
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[Full Text: https://doi.org/10.1253/jcj.57.928]
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<p class="mim-text-font">
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Katritsis, D., Wilmshurst, P. T., Wendon, J. A., Davies, M. J., Webb-Peploe, M. M.
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<strong>Primary restrictive cardiomyopathy: clinical and pathologic characteristics.</strong>
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J. Am. Coll. Cardiol. 18: 1230-1235, 1991.
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[PubMed: 1918700]
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[Full Text: https://doi.org/10.1016/0735-1097(91)90540-p]
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Kushwaha, S. S., Fallon, J. T., Fuster, V.
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<strong>Restrictive cardiomyopathy.</strong>
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New Eng. J. Med. 336: 267-276, 1997.
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[PubMed: 8995091]
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[Full Text: https://doi.org/10.1056/NEJM199701233360407]
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<p class="mim-text-font">
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Mogensen, J., Kubo, T., Duque, M., Uribe, W., Shaw, A., Murphy, R., Gimeno, J. R., Elliott, P., McKenna, W. J.
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<strong>Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.</strong>
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J. Clin. Invest. 111: 209-216, 2003. Note: Erratum: J. Clin. Invest.: 111: 925 only, 2003.
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[PubMed: 12531876]
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[Full Text: https://doi.org/10.1172/JCI16336]
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Marla J. F. O'Neill - updated : 07/14/2021<br>Marla J. F. O'Neill - updated : 07/25/2016<br>Marla J. F. O'Neill - updated : 11/20/2008<br>Marla J. F. O'Neill - updated : 2/7/2005<br>Victor A. McKusick - updated : 5/21/2003<br>Victor A. McKusick - updated : 5/21/2003<br>Victor A. McKusick - updated : 3/4/1997
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Victor A. McKusick : 6/8/1989
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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