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<!--
|
||
UID=4041
|
||
ConceptID=C0014117
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Endocardial fibroelastosis<span class="h1sub">(EFE)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4041</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.">C0014117</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>EFE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Endocardial fibroelastosis (65457005); Elastomyofibrosis (65457005); EFE - Endocardial fibroelastosis (65457005)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_989040"><div><strong>Unknown inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>989040</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">Hereditary clinical entity whose mode of inheritance is unknown.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/989040">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_989040" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unknown inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001706">HP:0001706</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009169" target="_blank">MONDO:0009169</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/226000" target="_blank">226000</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=2022">ORPHA2022</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">Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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 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=4041" target="_blank" href="/omim/226000">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=4041" ref="ncbi_uid=4041">V</a></span></span><span class="TLline">Endocardial fibroelastosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="TLline"><a href="/medgen/867299" ref="tree=MeSH" title="MedGen record for Abnormal endocardium morphology">Abnormal endocardium morphology</a></span><ul><li><span class="matched_ds">Endocardial fibroelastosis</span><ul><li><span class="TLline"><a href="/medgen/403467" ref="tree=MeSH" title="MedGen record for Isolated Noncompaction of the Ventricular Myocardium">Isolated Noncompaction of the Ventricular Myocardium</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></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=1954&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Endocardial fibroelastosis</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_39698"><div><strong>Hurler syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39698</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.">C0086795</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I: Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I: Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39698">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_90999"><div><strong>Renal carnitine transport defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90999</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.">C0342788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary carnitine deficiency (PCD) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. If untreated, it encompasses a broad clinical spectrum including: (1) metabolic decompensation in infancy typically presenting between age three months and two years with episodes of hypoketotic hypoglycemia, poor feeding, irritability, lethargy, hepatomegaly, elevated liver transaminases, and hyperammonemia triggered by fasting or common illnesses such as upper respiratory tract infection or gastroenteritis; (2) childhood myopathy involving heart and skeletal muscle with onset between age two and four years; (3) pregnancy-related decreased stamina or exacerbation of cardiac arrhythmia; (4) fatigability in adulthood; and (5) absence of symptoms. The latter two categories often include mothers diagnosed with PCD after newborn screening has identified low carnitine levels in their infants.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90999">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_107893"><div><strong>3-Methylglutaconic aciduria type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107893</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.">C0574083</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt (most evident in infancy); not all features may be present in a given affected male. Cardiomyopathy, which is almost always present before age five years, is typically dilated cardiomyopathy with or without endocardial fibroelastosis or left ventricular noncompaction; hypertrophic cardiomyopathy can also occur. Heart failure is a significant cause of morbidity and mortality; risk of arrhythmia and sudden death is increased. Neutropenia is most often associated with mouth ulcers, pneumonia, and sepsis. The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. Prepubertal growth delay is followed by a postpubertal growth spurt with remarkable "catch-up" growth. Heterozygous females who have a normal karyotype are asymptomatic and have normal biochemical studies.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107893">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331549"><div><strong>HEC syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331549</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.">C1833607</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/331549">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334498"><div><strong>Dilated cardiomyopathy 1M</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334498</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.">C1843808</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334498">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336387"><div><strong>Ulnar agenesis and endocardial fibroelastosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336387</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.">C1848649</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336387">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341665"><div><strong>Endocardial fibroelastosis and coarctation of abdominal aorta</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341665</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.">C1856971</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341665">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393713"><div><strong>Dilated cardiomyopathy 1AA</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393713</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.">C2677338</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393713">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646392"><div><strong>Atrial standstill 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646392</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.">C4551959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646392">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648325"><div><strong>Cardiomyopathy, familial hypertrophic 27</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648325</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.">C4748014</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (188840), and MYL3 (160790) genes has also been reported in 1 family.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648325">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1786417"><div><strong>Immunodeficiency 80 with or without congenital cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786417</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.">C5543344</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80) is an autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported (summary by Baxley et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1786417">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_107893" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-Methylglutaconic aciduria type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial standstill 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648325" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy, familial hypertrophic 27</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393713" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated cardiomyopathy 1AA</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dilated cardiomyopathy 1M</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (11)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341665" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Endocardial fibroelastosis and coarctation of abdominal aorta</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">HEC syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_39698" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hurler syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786417" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 80 with or without congenital cardiomyopathy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90999" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal carnitine transport defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ulnar agenesis and endocardial fibroelastosis</a></div></span></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/14214809">CLASSIFICATION AND DIFFERENTIAL DIAGNOSIS OF THE MYOCARDIOPATHIES.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">FOWLER NO</span><br />
|
||
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
|
||
1964 Jul;7:1-16.
|
||
doi: 10.1016/s0033-0620(64)80027-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14214809" target="_blank">14214809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14105031">THE MEDICAL MANAGEMENT OF CLINICAL ENDOCARDIAL FIBROELASTOSIS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MANNING JA,
|
||
SELLERS FJ,
|
||
BYNUM RS,
|
||
KEITH JD</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
1964 Jan;29:60-5.
|
||
doi: 10.1161/01.cir.29.1.60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14105031" target="_blank">14105031</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4236174">Management of primary endomyocardial disease. The myocarditis-endocardial fibroelastosis syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hastreiter AR,
|
||
Miller RA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1964 May;11(2):401-30.
|
||
doi: 10.1016/s0031-3955(16)31555-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4236174" target="_blank">4236174</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22endocardial%20fibroelastosis%22%5Btiab%3A~0%5D)%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 (21)</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/32674792">Hydroxychloroquine to Prevent Recurrent Congenital Heart Block in Fetuses of Anti-SSA/Ro-Positive Mothers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izmirly P,
|
||
Kim M,
|
||
Friedman DM,
|
||
Costedoat-Chalumeau N,
|
||
Clancy R,
|
||
Copel JA,
|
||
Phoon CKL,
|
||
Cuneo BF,
|
||
Cohen RE,
|
||
Robins K,
|
||
Masson M,
|
||
Wainwright BJ,
|
||
Zahr N,
|
||
Saxena A,
|
||
Buyon JP</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2020 Jul 21;76(3):292-302.
|
||
doi: 10.1016/j.jacc.2020.05.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32674792" target="_blank">32674792</a><a href="/pmc/articles/PMC7394202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25076689">Cardiac tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petris AO,
|
||
Alexandrescu DM,
|
||
Costache II</span><br />
|
||
<span class="medgenPMjournal">Rev Med Chir Soc Med Nat Iasi</span>
|
||
2014 Apr-Jun;118(2):289-92.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25076689" target="_blank">25076689</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22935263">Cardiac mass in Behçet's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yue C,
|
||
Li J,
|
||
Li M,
|
||
Zhang F,
|
||
Zhao D,
|
||
Cui Q</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
|
||
2012 May-Jun;30(3 Suppl 72):S27-31.
|
||
Epub 2012 Sep 25
|
||
<span class="bold">PMID: </span><a href="/pubmed/22935263" target="_blank">22935263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19491551">Papillary fibroelastomas: innocent bystanders or ignored culprits?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saloura V,
|
||
Grivas PD,
|
||
Sarwar AB,
|
||
Gorodin P,
|
||
Ledley GS</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med</span>
|
||
2009 May;121(3):131-8.
|
||
doi: 10.3810/pgm.2009.05.2013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19491551" target="_blank">19491551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4211802">An overview of primary endocardial fibroelastosis and chronic viral cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geme JW Jr,
|
||
Davis CW,
|
||
Noren GR</span><br />
|
||
<span class="medgenPMjournal">Perspect Biol Med</span>
|
||
1974 Summer;17(4):495-505.
|
||
doi: 10.1353/pbm.1974.0020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4211802" target="_blank">4211802</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Endocardial%20fibroelastosis%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 (186)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25076689">Cardiac tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petris AO,
|
||
Alexandrescu DM,
|
||
Costache II</span><br />
|
||
<span class="medgenPMjournal">Rev Med Chir Soc Med Nat Iasi</span>
|
||
2014 Apr-Jun;118(2):289-92.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25076689" target="_blank">25076689</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11942536">Cardiovascular causes for sudden infant death.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valdés-Dapena M,
|
||
Gilbert-Barness E</span><br />
|
||
<span class="medgenPMjournal">Pediatr Pathol Mol Med</span>
|
||
2002 Mar-Apr;21(2):195-211.
|
||
doi: 10.1080/15227950252852096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11942536" target="_blank">11942536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6195624">Arrhythmogenic ventricles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bharati S,
|
||
Lev M</span><br />
|
||
<span class="medgenPMjournal">Pacing Clin Electrophysiol</span>
|
||
1983 Sep;6(5 Pt 2):1035-49.
|
||
doi: 10.1111/j.1540-8159.1983.tb04442.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6195624" target="_blank">6195624</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4211802">An overview of primary endocardial fibroelastosis and chronic viral cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geme JW Jr,
|
||
Davis CW,
|
||
Noren GR</span><br />
|
||
<span class="medgenPMjournal">Perspect Biol Med</span>
|
||
1974 Summer;17(4):495-505.
|
||
doi: 10.1353/pbm.1974.0020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4211802" target="_blank">4211802</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14209574">FIBROELASTOSIS IN CHILDREN.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MANNING JA,
|
||
KEITH JD</span><br />
|
||
<span class="medgenPMjournal">Prog Cardiovasc Dis</span>
|
||
1964 Sep;7:172-8.
|
||
doi: 10.1016/s0033-0620(64)80018-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14209574" target="_blank">14209574</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Endocardial%20fibroelastosis%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 (326)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32674792">Hydroxychloroquine to Prevent Recurrent Congenital Heart Block in Fetuses of Anti-SSA/Ro-Positive Mothers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izmirly P,
|
||
Kim M,
|
||
Friedman DM,
|
||
Costedoat-Chalumeau N,
|
||
Clancy R,
|
||
Copel JA,
|
||
Phoon CKL,
|
||
Cuneo BF,
|
||
Cohen RE,
|
||
Robins K,
|
||
Masson M,
|
||
Wainwright BJ,
|
||
Zahr N,
|
||
Saxena A,
|
||
Buyon JP</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2020 Jul 21;76(3):292-302.
|
||
doi: 10.1016/j.jacc.2020.05.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32674792" target="_blank">32674792</a><a href="/pmc/articles/PMC7394202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22935263">Cardiac mass in Behçet's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yue C,
|
||
Li J,
|
||
Li M,
|
||
Zhang F,
|
||
Zhao D,
|
||
Cui Q</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
|
||
2012 May-Jun;30(3 Suppl 72):S27-31.
|
||
Epub 2012 Sep 25
|
||
<span class="bold">PMID: </span><a href="/pubmed/22935263" target="_blank">22935263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19491551">Papillary fibroelastomas: innocent bystanders or ignored culprits?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saloura V,
|
||
Grivas PD,
|
||
Sarwar AB,
|
||
Gorodin P,
|
||
Ledley GS</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med</span>
|
||
2009 May;121(3):131-8.
|
||
doi: 10.3810/pgm.2009.05.2013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19491551" target="_blank">19491551</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9649940">Molecular aspects of myocarditis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowles NE,
|
||
Towbin JA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Cardiol</span>
|
||
1998 May;13(3):179-84.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9649940" target="_blank">9649940</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4385968">Acyanotic congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McNamara DG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1964 May;11(2):295-314.
|
||
doi: 10.1016/s0031-3955(16)31552-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4385968" target="_blank">4385968</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Endocardial%20fibroelastosis%22%20AND%20Therapy%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 (76)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36217801">Left ventricular non-compaction cardiomyopathy: restrictive subtype with MYH7 gene mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oztarhan K,
|
||
Senturk B,
|
||
Ucar O</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2023 May;33(5):810-812.
|
||
Epub 2022 Oct 11
|
||
doi: 10.1017/S1047951122002773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36217801" target="_blank">36217801</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32674792">Hydroxychloroquine to Prevent Recurrent Congenital Heart Block in Fetuses of Anti-SSA/Ro-Positive Mothers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izmirly P,
|
||
Kim M,
|
||
Friedman DM,
|
||
Costedoat-Chalumeau N,
|
||
Clancy R,
|
||
Copel JA,
|
||
Phoon CKL,
|
||
Cuneo BF,
|
||
Cohen RE,
|
||
Robins K,
|
||
Masson M,
|
||
Wainwright BJ,
|
||
Zahr N,
|
||
Saxena A,
|
||
Buyon JP</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2020 Jul 21;76(3):292-302.
|
||
doi: 10.1016/j.jacc.2020.05.045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32674792" target="_blank">32674792</a><a href="/pmc/articles/PMC7394202" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25076689">Cardiac tumors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petris AO,
|
||
Alexandrescu DM,
|
||
Costache II</span><br />
|
||
<span class="medgenPMjournal">Rev Med Chir Soc Med Nat Iasi</span>
|
||
2014 Apr-Jun;118(2):289-92.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25076689" target="_blank">25076689</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22935263">Cardiac mass in Behçet's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yue C,
|
||
Li J,
|
||
Li M,
|
||
Zhang F,
|
||
Zhao D,
|
||
Cui Q</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
|
||
2012 May-Jun;30(3 Suppl 72):S27-31.
|
||
Epub 2012 Sep 25
|
||
<span class="bold">PMID: </span><a href="/pubmed/22935263" target="_blank">22935263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19491551">Papillary fibroelastomas: innocent bystanders or ignored culprits?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saloura V,
|
||
Grivas PD,
|
||
Sarwar AB,
|
||
Gorodin P,
|
||
Ledley GS</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med</span>
|
||
2009 May;121(3):131-8.
|
||
doi: 10.3810/pgm.2009.05.2013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19491551" target="_blank">19491551</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Endocardial%20fibroelastosis%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 (182)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38884761">Clinical Presentation and Therapy of Hypoplastic Left Heart Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haas NA,
|
||
Driscoll DJ,
|
||
Rickert-Sperling S</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2024;1441:931-936.
|
||
doi: 10.1007/978-3-031-44087-8_59.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38884761" target="_blank">38884761</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31685414">Autoimmune-mediated congenital heart block.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wainwright B,
|
||
Bhan R,
|
||
Trad C,
|
||
Cohen R,
|
||
Saxena A,
|
||
Buyon J,
|
||
Izmirly P</span><br />
|
||
<span class="medgenPMjournal">Best Pract Res Clin Obstet Gynaecol</span>
|
||
2020 Apr;64:41-51.
|
||
Epub 2019 Oct 8
|
||
doi: 10.1016/j.bpobgyn.2019.09.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31685414" target="_blank">31685414</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22935263">Cardiac mass in Behçet's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yue C,
|
||
Li J,
|
||
Li M,
|
||
Zhang F,
|
||
Zhao D,
|
||
Cui Q</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Rheumatol</span>
|
||
2012 May-Jun;30(3 Suppl 72):S27-31.
|
||
Epub 2012 Sep 25
|
||
<span class="bold">PMID: </span><a href="/pubmed/22935263" target="_blank">22935263</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16218462">Anti-SSA/Ro and anti-SSB/La antibody-mediated congenital heart block.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Costedoat-Chalumeau N,
|
||
Georgin-Lavialle S,
|
||
Amoura Z,
|
||
Piette JC</span><br />
|
||
<span class="medgenPMjournal">Lupus</span>
|
||
2005;14(9):660-4.
|
||
doi: 10.1191/0961203305lu2195oa.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16218462" target="_blank">16218462</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9649940">Molecular aspects of myocarditis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bowles NE,
|
||
Towbin JA</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Cardiol</span>
|
||
1998 May;13(3):179-84.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9649940" target="_blank">9649940</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Endocardial%20fibroelastosis%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 (108)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38454620">The Ross-Konno Procedure With or Without Mitral Valve Surgery: A Systematic Review With Individual Data Pooling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dib N,
|
||
Ducruet T,
|
||
Poirier N,
|
||
Khairy P</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
|
||
2024 Jul;15(4):411-418.
|
||
Epub 2024 Mar 7
|
||
doi: 10.1177/21501351241232075.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38454620" target="_blank">38454620</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36870970">Maternal and infant outcomes of pregnancy associated with anti-SSA/RO antibodies: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sheng X,
|
||
Song X,
|
||
Xiong Y,
|
||
Ren T,
|
||
Chang X,
|
||
Wu J,
|
||
Cao J,
|
||
Cheng T,
|
||
Wang M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rheumatol Online J</span>
|
||
2023 Mar 4;21(1):22.
|
||
doi: 10.1186/s12969-023-00803-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36870970" target="_blank">36870970</a><a href="/pmc/articles/PMC9985242" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Endocardial%20fibroelastosis%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
||
<div>
|
||
|
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<div class="portlet mgSection" id="ID_113">
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<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>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=226000" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2022" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Endocardial%20fibroelastosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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