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<meta name="keywords" content="C0340429, childhood restrictive cardiomyopathy, congenital abnormality, familial restrictive cardiomyopathy, hereditary restrictive cardiomyopathy, rcm, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).\n\nIn people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.\n\nFamilial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.\n\nAdults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=468561
|
||
ConceptID=C0340429
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Familial restrictive cardiomyopathy<span class="h1sub">(RCM)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>468561</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0340429</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Childhood Restrictive Cardiomyopathy; RCM</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial restrictive cardiomyopathy (233878008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/7139">TNNT2</a>, <a target="_blank" href="/gene/7137">TNNI3</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016340" target="_blank">MONDO:0016340</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS115210" target="_blank">PS115210</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=217635">ORPHA217635</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).<br /><br />In people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.<br /><br />Familial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.<br /><br />Adults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0340429[DISCUI]&test_type=Clinical" ref="ncbi_uid=468561">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=468561" ref="ncbi_uid=468561">V</a></span></span><span class="TLline">Familial restrictive cardiomyopathy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1861861[DISCUI]&test_type=Clinical" ref="ncbi_uid=396236">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=396236" target="_blank" href="/omim/115210">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=396236" ref="ncbi_uid=396236">V</a></span></span><span class="TLline"><a href="/medgen/396236" ref="tree=GTR&ncbi_uid=396236&link_uid=396236" title="View MedGen record for 'Cardiomyopathy, familial restrictive, 1'">Cardiomyopathy, familial restrictive, 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400673" target="_blank" href="/omim/609578">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/400673" ref="tree=GTR&ncbi_uid=400673&link_uid=400673" title="View MedGen record for 'Cardiomyopathy, familial restrictive, 2'">Cardiomyopathy, familial restrictive, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676271[DISCUI]&test_type=Clinical" ref="ncbi_uid=382807">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382807" target="_blank" href="/omim/191045">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382807" ref="ncbi_uid=382807">V</a></span></span><span class="TLline"><a href="/medgen/382807" ref="tree=GTR&ncbi_uid=382807&link_uid=382807" title="View MedGen record for 'Cardiomyopathy, familial restrictive, 3'">Cardiomyopathy, familial restrictive, 3</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Familial restrictive cardiomyopathy</span><ul><li><span class="TLline"><a href="/medgen/639047" ref="tree=MeSH" title="MedGen record for Atrial standstill">Atrial standstill</a></span><ul><li><span class="TLline"><a href="/medgen/1646392" ref="tree=MeSH" title="MedGen record for Atrial standstill 1">Atrial standstill 1</a></span></li><li><span class="TLline"><a href="/medgen/816731" ref="tree=MeSH" title="MedGen record for Atrial standstill 2">Atrial standstill 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/698415" ref="tree=MeSH" title="MedGen record for Autosomal recessive inherited pseudoxanthoma elasticum">Autosomal recessive inherited pseudoxanthoma elasticum</a></span></li><li><span class="TLline"><a href="/medgen/396236" ref="tree=MeSH" title="MedGen record for Cardiomyopathy, familial restrictive, 1">Cardiomyopathy, familial restrictive, 1</a></span></li><li><span class="TLline"><a href="/medgen/400673" ref="tree=MeSH" title="MedGen record for Cardiomyopathy, familial restrictive, 2">Cardiomyopathy, familial restrictive, 2</a></span></li><li><span class="TLline"><a href="/medgen/382807" ref="tree=MeSH" title="MedGen record for Cardiomyopathy, familial restrictive, 3">Cardiomyopathy, familial restrictive, 3</a></span></li><li><span class="TLline"><a href="/medgen/330449" ref="tree=MeSH" title="MedGen record for Desmin-related myofibrillar myopathy">Desmin-related myofibrillar myopathy</a></span></li><li><span class="TLline"><a href="/medgen/1825951" ref="tree=MeSH" title="MedGen record for Familial isolated restrictive cardiomyopathy">Familial isolated restrictive cardiomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/331549" ref="tree=MeSH" title="MedGen record for HEC syndrome">HEC syndrome</a></span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=18882&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Familial restrictive cardiomyopathy</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37716772">Dilated cardiomyopathy: causes, mechanisms, and current and future treatment approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heymans S,
|
||
Lakdawala NK,
|
||
Tschöpe C,
|
||
Klingel K</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2023 Sep 16;402(10406):998-1011.
|
||
doi: 10.1016/S0140-6736(23)01241-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37716772" target="_blank">37716772</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37622657">2023 ESC Guidelines for the management of cardiomyopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arbelo E,
|
||
Protonotarios A,
|
||
Gimeno JR,
|
||
Arbustini E,
|
||
Barriales-Villa R,
|
||
Basso C,
|
||
Bezzina CR,
|
||
Biagini E,
|
||
Blom NA,
|
||
de Boer RA,
|
||
De Winter T,
|
||
Elliott PM,
|
||
Flather M,
|
||
Garcia-Pavia P,
|
||
Haugaa KH,
|
||
Ingles J,
|
||
Jurcut RO,
|
||
Klaassen S,
|
||
Limongelli G,
|
||
Loeys B,
|
||
Mogensen J,
|
||
Olivotto I,
|
||
Pantazis A,
|
||
Sharma S,
|
||
Van Tintelen JP,
|
||
Ware JS,
|
||
Kaski JP;
|
||
ESC Scientific Document Group</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2023 Oct 1;44(37):3503-3626.
|
||
doi: 10.1093/eurheartj/ehad194.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37622657" target="_blank">37622657</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32476490">Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement From the American Heart Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kittleson MM,
|
||
Maurer MS,
|
||
Ambardekar AV,
|
||
Bullock-Palmer RP,
|
||
Chang PP,
|
||
Eisen HJ,
|
||
Nair AP,
|
||
Nativi-Nicolau J,
|
||
Ruberg FL;
|
||
American Heart Association Heart Failure and Transplantation Committee of the Council on Clinical Cardiology</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2020 Jul 7;142(1):e7-e22.
|
||
Epub 2020 Jun 1
|
||
doi: 10.1161/CIR.0000000000000792.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32476490" target="_blank">32476490</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(familial%20restrictive%20cardiomyopathy)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (106)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35509112">Pre-existing Ab against vimentin leads to false-positive HLA Ab results in two pediatric heart transplant candidates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bansal S,
|
||
Franz BJ,
|
||
Land G,
|
||
Mohanakumar T,
|
||
Zangwill S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Transplant</span>
|
||
2022 Sep;26(6):e14302.
|
||
Epub 2022 May 4
|
||
doi: 10.1111/petr.14302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35509112" target="_blank">35509112</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20restrictive%20cardiomyopathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24315344">Titin mutation in familial restrictive cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peled Y,
|
||
Gramlich M,
|
||
Yoskovitz G,
|
||
Feinberg MS,
|
||
Afek A,
|
||
Polak-Charcon S,
|
||
Pras E,
|
||
Sela BA,
|
||
Konen E,
|
||
Weissbrod O,
|
||
Geiger D,
|
||
Gordon PM,
|
||
Thierfelder L,
|
||
Freimark D,
|
||
Gerull B,
|
||
Arad M</span><br />
|
||
<span class="medgenPMjournal">Int J Cardiol</span>
|
||
2014 Jan 15;171(1):24-30.
|
||
Epub 2013 Nov 25
|
||
doi: 10.1016/j.ijcard.2013.11.037.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24315344" target="_blank">24315344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22071211">Familial restrictive cardiomyopathy with 12 affected family members.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Daneshvar DA,
|
||
Kedia G,
|
||
Fishbein MC,
|
||
Siegel RJ</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
2012 Feb 1;109(3):445-7.
|
||
Epub 2011 Nov 8
|
||
doi: 10.1016/j.amjcard.2011.09.031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22071211" target="_blank">22071211</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12943897">Familial restrictive cardiomyopathy with skeletal abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz ML,
|
||
Colan SD</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
2003 Sep 1;92(5):636-9.
|
||
doi: 10.1016/s0002-9149(03)00744-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12943897" target="_blank">12943897</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20restrictive%20cardiomyopathy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37155947">Successful Reuse of a Donor Heart.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Esmailian G,
|
||
Chen Q,
|
||
Ramzy D,
|
||
Kobashigawa JA,
|
||
Chikwe J,
|
||
Esmailian F</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2023 May 1;50(3)
|
||
doi: 10.14503/THIJ-21-7726.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37155947" target="_blank">37155947</a><a href="/pmc/articles/PMC10353279" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29212899">Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tucker NR,
|
||
McLellan MA,
|
||
Hu D,
|
||
Ye J,
|
||
Parsons VA,
|
||
Mills RW,
|
||
Clauss S,
|
||
Dolmatova E,
|
||
Shea MA,
|
||
Milan DJ,
|
||
Scott NS,
|
||
Lindsay M,
|
||
Lubitz SA,
|
||
Domian IJ,
|
||
Stone JR,
|
||
Lin H,
|
||
Ellinor PT</span><br />
|
||
<span class="medgenPMjournal">Circ Cardiovasc Genet</span>
|
||
2017 Dec;10(6)
|
||
doi: 10.1161/CIRCGENETICS.117.001780.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29212899" target="_blank">29212899</a><a href="/pmc/articles/PMC5802346" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25541130">Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huby AC,
|
||
Mendsaikhan U,
|
||
Takagi K,
|
||
Martherus R,
|
||
Wansapura J,
|
||
Gong N,
|
||
Osinska H,
|
||
James JF,
|
||
Kramer K,
|
||
Saito K,
|
||
Robbins J,
|
||
Khuchua Z,
|
||
Towbin JA,
|
||
Purevjav E</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2014 Dec 30;64(25):2765-76.
|
||
doi: 10.1016/j.jacc.2014.09.071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25541130" target="_blank">25541130</a><a href="/pmc/articles/PMC4279060" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12943897">Familial restrictive cardiomyopathy with skeletal abnormalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz ML,
|
||
Colan SD</span><br />
|
||
<span class="medgenPMjournal">Am J Cardiol</span>
|
||
2003 Sep 1;92(5):636-9.
|
||
doi: 10.1016/s0002-9149(03)00744-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12943897" target="_blank">12943897</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2317404">Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fitzpatrick AP,
|
||
Shapiro LM,
|
||
Rickards AF,
|
||
Poole-Wilson PA</span><br />
|
||
<span class="medgenPMjournal">Br Heart J</span>
|
||
1990 Feb;63(2):114-8.
|
||
doi: 10.1136/hrt.63.2.114.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2317404" target="_blank">2317404</a><a href="/pmc/articles/PMC1024337" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20restrictive%20cardiomyopathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26666891">Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brodehl A,
|
||
Ferrier RA,
|
||
Hamilton SJ,
|
||
Greenway SC,
|
||
Brundler MA,
|
||
Yu W,
|
||
Gibson WT,
|
||
McKinnon ML,
|
||
McGillivray B,
|
||
Alvarez N,
|
||
Giuffre M,
|
||
Schwartzentruber J;
|
||
FORGE Canada Consortium,
|
||
Gerull B</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2016 Mar;37(3):269-79.
|
||
Epub 2016 Jan 8
|
||
doi: 10.1002/humu.22942.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26666891" target="_blank">26666891</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20restrictive%20cardiomyopathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0340429%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0340429%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0340429%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0340429%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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