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<meta name="keywords" content="C5543344, disease or syndrome, imd80, immunodeficiency 80 with or without cardiomyopathy, immunodeficiency 80 with or without congenital cardiomyopathy, immunodeficiency with or without congenital cardiomyopathy, mcm10, mcm10 deficiency, 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="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)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1786417
|
||
ConceptID=C5543344
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Immunodeficiency 80 with or without congenital cardiomyopathy<span class="h1sub">(IMD80)</span></div></h1><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."><span class="highlight" style="background-color:">C5543344</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Immunodeficiency 80 with or without cardiomyopathy; MCM10 DEFICIENCY</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="MCM10 - ID: 55388 - NCBI Gene" href="/gene/55388" class="medgenPMinfo">MCM10</a> (10p13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0030266" target="_blank">MONDO:0030266</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619313" target="_blank">619313</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>
|
||
<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">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). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
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<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_40111"><div><strong>Restrictive cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40111</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.">C0007196</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40111">Feature record</a> | <a href="/medgen?term=%22Restrictive%20cardiomyopathy%22%5BClinical%20Features%5D%20OR%2040111%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4041"><div><strong>Endocardial fibroelastosis</strong><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></div>
|
||
<div class="spaceAbove">Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4041">Feature record</a> | <a href="/medgen?term=%22Endocardial%20fibroelastosis%22%5BClinical%20Features%5D%20OR%204041%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10653"><div><strong>Pericardial effusion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10653</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.">C0031039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Accumulation of fluid within the pericardium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10653">Feature record</a> | <a href="/medgen?term=%22Pericardial%20effusion%22%5BClinical%20Features%5D%20OR%2010653%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_677114"><div><strong>Right atrial enlargement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>677114</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.">C0748427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in size of the right atrium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/677114">Feature record</a> | <a href="/medgen?term=%22Right%20atrial%20enlargement%22%5BClinical%20Features%5D%20OR%20677114%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_8360"><div><strong>Diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8360</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.">C0011991</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8360">Feature record</a> | <a href="/medgen?term=%22Diarrhea%22%5BClinical%20Features%5D%20OR%208360%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107511"><div><strong>Hypofibrinogenemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107511</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.">C0553681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased concentration of fibrinogen in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107511">Feature record</a> | <a href="/medgen?term=%22Hypofibrinogenemia%22%5BClinical%20Features%5D%20OR%20107511%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7034"><div><strong>Immunodeficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7034</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.">C0021051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7034">Feature record</a> | <a href="/medgen?term=%22Immunodeficiency%22%5BClinical%20Features%5D%20OR%207034%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_146347"><div><strong>Hypoplasia of the thymus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146347</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.">C0685891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the thymus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/146347">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20thymus%22%5BClinical%20Features%5D%20OR%20146347%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340780"><div><strong>B lymphocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340780</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.">C1855067</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal decrease from the normal count of B cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340780">Feature record</a> | <a href="/medgen?term=%22B%20lymphocytopenia%22%5BClinical%20Features%5D%20OR%20340780%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_383765"><div><strong>Reduced natural killer cell count</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383765</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.">C1855767</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383765">Feature record</a> | <a href="/medgen?term=%22Reduced%20natural%20killer%20cell%20count%22%5BClinical%20Features%5D%20OR%20383765%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_410116"><div><strong>Hypoplastic spleen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>410116</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.">C1970617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Underdevelopment of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/410116">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20spleen%22%5BClinical%20Features%5D%20OR%20410116%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_419385"><div><strong>T lymphocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419385</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.">C2931322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low count of T cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419385">Feature record</a> | <a href="/medgen?term=%22T%20lymphocytopenia%22%5BClinical%20Features%5D%20OR%20419385%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_871152"><div><strong>Impaired lymphocyte transformation with phytohemagglutinin</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>871152</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.">C4025625</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/871152">Feature record</a> | <a href="/medgen?term=%22Impaired%20lymphocyte%20transformation%20with%20phytohemagglutinin%22%5BClinical%20Features%5D%20OR%20871152%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1614554"><div><strong>Decreased lymphocyte proliferation in response to anti-CD3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1614554</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.">C4531165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1614554">Feature record</a> | <a href="/medgen?term=%22Decreased%20lymphocyte%20proliferation%20in%20response%20to%20anti-CD3%22%5BClinical%20Features%5D%20OR%201614554%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1634535"><div><strong>Severe cytomegalovirus infection</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634535</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.">C4703481</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An unusually severe infection by cytomegalovirus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634535">Feature record</a> | <a href="/medgen?term=%22Severe%20cytomegalovirus%20infection%22%5BClinical%20Features%5D%20OR%201634535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5169"><div><strong>Fever</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5169</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.">C0015967</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Body temperature elevated above the normal range.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5169">Feature record</a> | <a href="/medgen?term=%22Fever%22%5BClinical%20Features%5D%20OR%205169%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_69130"><div><strong>Increased circulating ferritin concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>69130</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.">C0241013</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of ferritin in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/69130">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20ferritin%20concentration%22%5BClinical%20Features%5D%20OR%2069130%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_167238"><div><strong>Hypertriglyceridemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167238</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.">C0813230</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in the level of triglycerides in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167238">Feature record</a> | <a href="/medgen?term=%22Hypertriglyceridemia%22%5BClinical%20Features%5D%20OR%20167238%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105327"><div><strong>Non-immune hydrops fetalis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105327</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.">C0455988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hydrops fetalis is a descriptive term for generalized edema of the fetus, with fluid accumulation in extravascular components and body cavities. It is not a diagnosis in itself, but a symptom and end-stage result of a wide variety of disorders. In the case of immune hydrops fetalis, a frequent cause is maternofetal incompatibility as in that related to a number of genetic anemias and metabolic disorders expressed in the fetus; in other instances, it remains idiopathic and likely multifactorial (summary by Bellini et al., 2009). Nonimmune hydrops fetalis accounts for 76 to 87% of all described cases of hydrops fetalis (Bellini et al., 2009). Genetic Heterogeneity of Hydrops Fetalis In southeast Asia, alpha-thalassemia (604131) is the most common cause of hydrops fetalis, accounting for 60 to 90% of cases. Almost all of these cases result from homozygous deletion of the HBA1 (141800) and HBA2 (141850) genes. A few cases have been reported that had 1 apparently normal alpha-globin gene, termed the hemoglobin H (613978) hydrops fetalis syndrome (summary by Chui and Waye, 1998). Other genetic disorders predisposing to NIHF include other congenital anemias, such as erythropoietic porphyria (e.g., 606938.0013), and many metabolic disorders, such as one form of Gaucher disease (e.g., 606463.0009), infantile sialic acid storage disease (269920), mucopolysaccharidosis type VII (253220), glycogen storage disease IV (232500), congenital disorder of glycosylation type Ia (212065), and disorders of lymphatic malformation (see, e.g., LMPHM1, 153100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/105327">Feature record</a> | <a href="/medgen?term=%22Non-immune%20hydrops%20fetalis%22%5BClinical%20Features%5D%20OR%20105327%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypofibrinogenemia</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5169" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fever</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_167238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertriglyceridemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_69130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating ferritin concentration</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-immune hydrops fetalis</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Endocardial fibroelastosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pericardial effusion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restrictive cardiomyopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_677114" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right atrial enlargement</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8360" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diarrhea</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">B lymphocytopenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1614554" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased lymphocyte proliferation in response to anti-CD3</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146347" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the thymus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_410116" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic spleen</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_871152" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Impaired lymphocyte transformation with phytohemagglutinin</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383765" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced natural killer cell count</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1634535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe cytomegalovirus infection</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_419385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">T lymphocytopenia</a></span></li></ul></li></ul></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/34229446">Diagnosis and Management of Myocarditis in Children: A Scientific Statement From the American Heart Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Law YM,
|
||
Lal AK,
|
||
Chen S,
|
||
Čiháková D,
|
||
Cooper LT Jr,
|
||
Deshpande S,
|
||
Godown J,
|
||
Grosse-Wortmann L,
|
||
Robinson JD,
|
||
Towbin JA;
|
||
American Heart Association Pediatric Heart Failure and Transplantation Committee of the Council on Lifelong Congenital Heart Disease and Heart Health in the Young and Stroke Council</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2021 Aug 10;144(6):e123-e135.
|
||
Epub 2021 Jul 7
|
||
doi: 10.1161/CIR.0000000000001001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34229446" target="_blank">34229446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29097320">2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Executive summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Khatib SM,
|
||
Stevenson WG,
|
||
Ackerman MJ,
|
||
Bryant WJ,
|
||
Callans DJ,
|
||
Curtis AB,
|
||
Deal BJ,
|
||
Dickfeld T,
|
||
Field ME,
|
||
Fonarow GC,
|
||
Gillis AM,
|
||
Granger CB,
|
||
Hammill SC,
|
||
Hlatky MA,
|
||
Joglar JA,
|
||
Kay GN,
|
||
Matlock DD,
|
||
Myerburg RJ,
|
||
Page RL</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2018 Oct;15(10):e190-e252.
|
||
Epub 2017 Oct 30
|
||
doi: 10.1016/j.hrthm.2017.10.035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29097320" target="_blank">29097320</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29097319">2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Khatib SM,
|
||
Stevenson WG,
|
||
Ackerman MJ,
|
||
Bryant WJ,
|
||
Callans DJ,
|
||
Curtis AB,
|
||
Deal BJ,
|
||
Dickfeld T,
|
||
Field ME,
|
||
Fonarow GC,
|
||
Gillis AM,
|
||
Granger CB,
|
||
Hammill SC,
|
||
Hlatky MA,
|
||
Joglar JA,
|
||
Kay GN,
|
||
Matlock DD,
|
||
Myerburg RJ,
|
||
Page RL</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2018 Oct;15(10):e73-e189.
|
||
Epub 2017 Oct 30
|
||
doi: 10.1016/j.hrthm.2017.10.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29097319" target="_blank">29097319</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2080%20with%20or%20without%20congenital%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 (1786)</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/37506969">Gene therapy for heart failure and cardiomyopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Argirò A,
|
||
Ding J,
|
||
Adler E</span><br />
|
||
<span class="medgenPMjournal">Rev Esp Cardiol (Engl Ed)</span>
|
||
2023 Dec;76(12):1042-1054.
|
||
Epub 2023 Jul 26
|
||
doi: 10.1016/j.rec.2023.06.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37506969" target="_blank">37506969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32698598">Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musunuru K,
|
||
Hershberger RE,
|
||
Day SM,
|
||
Klinedinst NJ,
|
||
Landstrom AP,
|
||
Parikh VN,
|
||
Prakash S,
|
||
Semsarian C,
|
||
Sturm AC;
|
||
American Heart Association Council on Genomic and Precision Medicine; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology</span><br />
|
||
<span class="medgenPMjournal">Circ Genom Precis Med</span>
|
||
2020 Aug;13(4):e000067.
|
||
Epub 2020 Jul 23
|
||
doi: 10.1161/HCG.0000000000000067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32698598" target="_blank">32698598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32112656">A mutation update for the FLNC gene in myopathies and cardiomyopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verdonschot JAJ,
|
||
Vanhoutte EK,
|
||
Claes GRF,
|
||
Helderman-van den Enden ATJM,
|
||
Hoeijmakers JGJ,
|
||
Hellebrekers DMEI,
|
||
de Haan A,
|
||
Christiaans I,
|
||
Lekanne Deprez RH,
|
||
Boen HM,
|
||
van Craenenbroeck EM,
|
||
Loeys BL,
|
||
Hoedemaekers YM,
|
||
Marcelis C,
|
||
Kempers M,
|
||
Brusse E,
|
||
van Waning JI,
|
||
Baas AF,
|
||
Dooijes D,
|
||
Asselbergs FW,
|
||
Barge-Schaapveld DQCM,
|
||
Koopman P,
|
||
van den Wijngaard A,
|
||
Heymans SRB,
|
||
Krapels IPC,
|
||
Brunner HG</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2020 Jun;41(6):1091-1111.
|
||
Epub 2020 Mar 20
|
||
doi: 10.1002/humu.24004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32112656" target="_blank">32112656</a><a href="/pmc/articles/PMC7318287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25865865">Left ventricular non-compaction cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Towbin JA,
|
||
Lorts A,
|
||
Jefferies JL</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2015 Aug 22;386(9995):813-25.
|
||
Epub 2015 Apr 9
|
||
doi: 10.1016/S0140-6736(14)61282-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25865865" target="_blank">25865865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24268009">Cardiac manifestations of systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miner JJ,
|
||
Kim AH</span><br />
|
||
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
|
||
2014 Feb;40(1):51-60.
|
||
doi: 10.1016/j.rdc.2013.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24268009" target="_blank">24268009</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2080%20with%20or%20without%20congenital%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 (14412)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36764891">Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petersen SE,
|
||
Jensen B,
|
||
Aung N,
|
||
Friedrich MG,
|
||
McMahon CJ,
|
||
Mohiddin SA,
|
||
Pignatelli RH,
|
||
Ricci F,
|
||
Anderson RH,
|
||
Bluemke DA</span><br />
|
||
<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
|
||
2023 Mar;16(3):408-425.
|
||
Epub 2023 Feb 8
|
||
doi: 10.1016/j.jcmg.2022.12.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36764891" target="_blank">36764891</a><a href="/pmc/articles/PMC9988693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34232438">Ventricular non-compaction review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srivastava S,
|
||
Yavari M,
|
||
Al-Abcha A,
|
||
Banga S,
|
||
Abela G</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Rev</span>
|
||
2022 Jul;27(4):1063-1076.
|
||
Epub 2021 Jul 7
|
||
doi: 10.1007/s10741-021-10128-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34232438" target="_blank">34232438</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32698598">Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musunuru K,
|
||
Hershberger RE,
|
||
Day SM,
|
||
Klinedinst NJ,
|
||
Landstrom AP,
|
||
Parikh VN,
|
||
Prakash S,
|
||
Semsarian C,
|
||
Sturm AC;
|
||
American Heart Association Council on Genomic and Precision Medicine; Council on Arteriosclerosis, Thrombosis and Vascular Biology; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology</span><br />
|
||
<span class="medgenPMjournal">Circ Genom Precis Med</span>
|
||
2020 Aug;13(4):e000067.
|
||
Epub 2020 Jul 23
|
||
doi: 10.1161/HCG.0000000000000067.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32698598" target="_blank">32698598</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31079692">Diabetic Cardiomyopathy: Definition, Diagnosis, and Therapeutic Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paolillo S,
|
||
Marsico F,
|
||
Prastaro M,
|
||
Renga F,
|
||
Esposito L,
|
||
De Martino F,
|
||
Di Napoli P,
|
||
Esposito I,
|
||
Ambrosio A,
|
||
Ianniruberto M,
|
||
Mennella R,
|
||
Paolillo R,
|
||
Gargiulo P</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Clin</span>
|
||
2019 Jul;15(3):341-347.
|
||
Epub 2019 Apr 5
|
||
doi: 10.1016/j.hfc.2019.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31079692" target="_blank">31079692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24082366">Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyers DE,
|
||
Basha HI,
|
||
Koenig MK</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2013;40(4):385-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24082366" target="_blank">24082366</a><a href="/pmc/articles/PMC3783139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2080%20with%20or%20without%20congenital%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 (9840)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32518358">Pregnancy and cardiovascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramlakhan KP,
|
||
Johnson MR,
|
||
Roos-Hesselink JW</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Cardiol</span>
|
||
2020 Nov;17(11):718-731.
|
||
Epub 2020 Jun 9
|
||
doi: 10.1038/s41569-020-0390-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32518358" target="_blank">32518358</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26320108">2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Priori SG,
|
||
Blomström-Lundqvist C,
|
||
Mazzanti A,
|
||
Blom N,
|
||
Borggrefe M,
|
||
Camm J,
|
||
Elliott PM,
|
||
Fitzsimons D,
|
||
Hatala R,
|
||
Hindricks G,
|
||
Kirchhof P,
|
||
Kjeldsen K,
|
||
Kuck KH,
|
||
Hernandez-Madrid A,
|
||
Nikolaou N,
|
||
Norekvål TM,
|
||
Spaulding C,
|
||
Van Veldhuisen DJ;
|
||
ESC Scientific Document Group</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2015 Nov 1;36(41):2793-2867.
|
||
Epub 2015 Aug 29
|
||
doi: 10.1093/eurheartj/ehv316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26320108" target="_blank">26320108</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25865865">Left ventricular non-compaction cardiomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Towbin JA,
|
||
Lorts A,
|
||
Jefferies JL</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2015 Aug 22;386(9995):813-25.
|
||
Epub 2015 Apr 9
|
||
doi: 10.1016/S0140-6736(14)61282-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25865865" target="_blank">25865865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16818140">Pediatric cardiac transplantation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alkhaldi A,
|
||
Chin C,
|
||
Bernstein D</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Surg</span>
|
||
2006 Aug;15(3):188-98.
|
||
doi: 10.1053/j.sempedsurg.2006.03.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16818140" target="_blank">16818140</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3510833">Cerebral embolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sherman DG,
|
||
Dyken ML,
|
||
Fisher M,
|
||
Harrison MJ,
|
||
Hart RG</span><br />
|
||
<span class="medgenPMjournal">Chest</span>
|
||
1986 Feb;89(2 Suppl):82S-98S.
|
||
doi: 10.1378/chest.89.2_supplement.82s.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3510833" target="_blank">3510833</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2080%20with%20or%20without%20congenital%20cardiomyopathy%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 (8412)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36764891">Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petersen SE,
|
||
Jensen B,
|
||
Aung N,
|
||
Friedrich MG,
|
||
McMahon CJ,
|
||
Mohiddin SA,
|
||
Pignatelli RH,
|
||
Ricci F,
|
||
Anderson RH,
|
||
Bluemke DA</span><br />
|
||
<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
|
||
2023 Mar;16(3):408-425.
|
||
Epub 2023 Feb 8
|
||
doi: 10.1016/j.jcmg.2022.12.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36764891" target="_blank">36764891</a><a href="/pmc/articles/PMC9988693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32112656">A mutation update for the FLNC gene in myopathies and cardiomyopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verdonschot JAJ,
|
||
Vanhoutte EK,
|
||
Claes GRF,
|
||
Helderman-van den Enden ATJM,
|
||
Hoeijmakers JGJ,
|
||
Hellebrekers DMEI,
|
||
de Haan A,
|
||
Christiaans I,
|
||
Lekanne Deprez RH,
|
||
Boen HM,
|
||
van Craenenbroeck EM,
|
||
Loeys BL,
|
||
Hoedemaekers YM,
|
||
Marcelis C,
|
||
Kempers M,
|
||
Brusse E,
|
||
van Waning JI,
|
||
Baas AF,
|
||
Dooijes D,
|
||
Asselbergs FW,
|
||
Barge-Schaapveld DQCM,
|
||
Koopman P,
|
||
van den Wijngaard A,
|
||
Heymans SRB,
|
||
Krapels IPC,
|
||
Brunner HG</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2020 Jun;41(6):1091-1111.
|
||
Epub 2020 Mar 20
|
||
doi: 10.1002/humu.24004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32112656" target="_blank">32112656</a><a href="/pmc/articles/PMC7318287" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31079692">Diabetic Cardiomyopathy: Definition, Diagnosis, and Therapeutic Implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paolillo S,
|
||
Marsico F,
|
||
Prastaro M,
|
||
Renga F,
|
||
Esposito L,
|
||
De Martino F,
|
||
Di Napoli P,
|
||
Esposito I,
|
||
Ambrosio A,
|
||
Ianniruberto M,
|
||
Mennella R,
|
||
Paolillo R,
|
||
Gargiulo P</span><br />
|
||
<span class="medgenPMjournal">Heart Fail Clin</span>
|
||
2019 Jul;15(3):341-347.
|
||
Epub 2019 Apr 5
|
||
doi: 10.1016/j.hfc.2019.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31079692" target="_blank">31079692</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24268009">Cardiac manifestations of systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miner JJ,
|
||
Kim AH</span><br />
|
||
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
|
||
2014 Feb;40(1):51-60.
|
||
doi: 10.1016/j.rdc.2013.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24268009" target="_blank">24268009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24082366">Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyers DE,
|
||
Basha HI,
|
||
Koenig MK</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2013;40(4):385-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24082366" target="_blank">24082366</a><a href="/pmc/articles/PMC3783139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2080%20with%20or%20without%20congenital%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 (6961)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36764891">Excessive Trabeculation of the Left Ventricle: JACC: Cardiovascular Imaging Expert Panel Paper.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Petersen SE,
|
||
Jensen B,
|
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Aung N,
|
||
Friedrich MG,
|
||
McMahon CJ,
|
||
Mohiddin SA,
|
||
Pignatelli RH,
|
||
Ricci F,
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||
Anderson RH,
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Bluemke DA</span><br />
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<span class="medgenPMjournal">JACC Cardiovasc Imaging</span>
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||
2023 Mar;16(3):408-425.
|
||
Epub 2023 Feb 8
|
||
doi: 10.1016/j.jcmg.2022.12.026.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36764891" target="_blank">36764891</a><a href="/pmc/articles/PMC9988693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35732239">Integrated multi-omic characterization of congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hill MC,
|
||
Kadow ZA,
|
||
Long H,
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||
Morikawa Y,
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||
Martin TJ,
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Birks EJ,
|
||
Campbell KS,
|
||
Nerbonne J,
|
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Lavine K,
|
||
Wadhwa L,
|
||
Wang J,
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||
Turaga D,
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Adachi I,
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Martin JF</span><br />
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<span class="medgenPMjournal">Nature</span>
|
||
2022 Aug;608(7921):181-191.
|
||
Epub 2022 Jun 22
|
||
doi: 10.1038/s41586-022-04989-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35732239" target="_blank">35732239</a><a href="/pmc/articles/PMC10405779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34232438">Ventricular non-compaction review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srivastava S,
|
||
Yavari M,
|
||
Al-Abcha A,
|
||
Banga S,
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||
Abela G</span><br />
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<span class="medgenPMjournal">Heart Fail Rev</span>
|
||
2022 Jul;27(4):1063-1076.
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||
Epub 2021 Jul 7
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||
doi: 10.1007/s10741-021-10128-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34232438" target="_blank">34232438</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24268009">Cardiac manifestations of systemic lupus erythematosus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miner JJ,
|
||
Kim AH</span><br />
|
||
<span class="medgenPMjournal">Rheum Dis Clin North Am</span>
|
||
2014 Feb;40(1):51-60.
|
||
doi: 10.1016/j.rdc.2013.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24268009" target="_blank">24268009</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24082366">Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyers DE,
|
||
Basha HI,
|
||
Koenig MK</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2013;40(4):385-94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24082366" target="_blank">24082366</a><a href="/pmc/articles/PMC3783139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2080%20with%20or%20without%20congenital%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 (7605)</a></div></div>
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||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37498645">Safety and Efficacy of Long-Acting Injectable Agents for HIV-1: Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
|
||
Zhao S,
|
||
Wu Y,
|
||
Duan W,
|
||
Li S,
|
||
Li Z,
|
||
Guo C,
|
||
Wang W,
|
||
Zhang T,
|
||
Wu H,
|
||
Huang X</span><br />
|
||
<span class="medgenPMjournal">JMIR Public Health Surveill</span>
|
||
2023 Jul 27;9:e46767.
|
||
doi: 10.2196/46767.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37498645" target="_blank">37498645</a><a href="/pmc/articles/PMC10415942" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36921717">Prevalence of human immunodeficiency virus, syphilis, and hepatitis B and C virus infections in pregnant women: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu S,
|
||
Wang J,
|
||
Guo Q,
|
||
Lan H,
|
||
Sun Y,
|
||
Ren M,
|
||
Liu Y,
|
||
Wang P,
|
||
Wang L,
|
||
Su R,
|
||
Zhang J,
|
||
Chen Y,
|
||
Li G</span><br />
|
||
<span class="medgenPMjournal">Clin Microbiol Infect</span>
|
||
2023 Aug;29(8):1000-1007.
|
||
Epub 2023 Mar 13
|
||
doi: 10.1016/j.cmi.2023.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36921717" target="_blank">36921717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33212031">Estimates of the global burden of cervical cancer associated with HIV.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stelzle D,
|
||
Tanaka LF,
|
||
Lee KK,
|
||
Ibrahim Khalil A,
|
||
Baussano I,
|
||
Shah ASV,
|
||
McAllister DA,
|
||
Gottlieb SL,
|
||
Klug SJ,
|
||
Winkler AS,
|
||
Bray F,
|
||
Baggaley R,
|
||
Clifford GM,
|
||
Broutet N,
|
||
Dalal S</span><br />
|
||
<span class="medgenPMjournal">Lancet Glob Health</span>
|
||
2021 Feb;9(2):e161-e169.
|
||
Epub 2020 Nov 16
|
||
doi: 10.1016/S2214-109X(20)30459-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33212031" target="_blank">33212031</a><a href="/pmc/articles/PMC7815633" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29967196">Global Burden of Atherosclerotic Cardiovascular Disease in People Living With HIV: Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah ASV,
|
||
Stelzle D,
|
||
Lee KK,
|
||
Beck EJ,
|
||
Alam S,
|
||
Clifford S,
|
||
Longenecker CT,
|
||
Strachan F,
|
||
Bagchi S,
|
||
Whiteley W,
|
||
Rajagopalan S,
|
||
Kottilil S,
|
||
Nair H,
|
||
Newby DE,
|
||
McAllister DA,
|
||
Mills NL</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2018 Sep 11;138(11):1100-1112.
|
||
doi: 10.1161/CIRCULATIONAHA.117.033369.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29967196" target="_blank">29967196</a><a href="/pmc/articles/PMC6221183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29260263">Systematic Literature Review on the Incidence and Prevalence of Heart Failure in Children and Adolescents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaddy RE,
|
||
George AT,
|
||
Jaecklin T,
|
||
Lochlainn EN,
|
||
Thakur L,
|
||
Agrawal R,
|
||
Solar-Yohay S,
|
||
Chen F,
|
||
Rossano JW,
|
||
Severin T,
|
||
Burch M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Cardiol</span>
|
||
2018 Mar;39(3):415-436.
|
||
Epub 2017 Dec 20
|
||
doi: 10.1007/s00246-017-1787-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29260263" target="_blank">29260263</a><a href="/pmc/articles/PMC5829104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Immunodeficiency%2080%20with%20or%20without%20congenital%20cardiomyopathy%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 (377)</a></div></div>
|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(immunodeficiency%2080%20with%20or%20without%20congenital%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=609357" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=55388[geneid]" target="_blank">View MCM10 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=619313" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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