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<meta name="keywords" content="C4014310, chtd4, congenital heart defects, multiple types caused by mutation in nr2f2, congenital heart defects, multiple types, 4, disease or syndrome, nr2f2, nr2f2 congenital heart defects, multiple types, 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="The multiple types of congenital heart defects observed in CHTD4 include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta. Intrafamilial variability and incomplete penetrance has been reported (Al Turki et al., 2014; Qiao et al., 2018). Some patients exhibit syndromic features such as developmental delay, congenital diaphragmatic hernia, and severe gastroesophageal reflux (High et al., 2016; Upadia et al., 2018). For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 (306955)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=862747
|
||
ConceptID=C4014310
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital heart defects, multiple types, 4<span class="h1sub">(CHTD4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>862747</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:">C4014310</span></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>CHTD4</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="NR2F2 - ID: 7026 - NCBI Gene" href="/gene/7026" class="medgenPMinfo">NR2F2</a> (15q26.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014344" target="_blank">MONDO:0014344</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615779" target="_blank">615779</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">The multiple types of congenital heart defects observed in CHTD4 include atrial, ventricular, and atrioventricular septal defects, double-outlet right ventricle, tetralogy of Fallot, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta. Intrafamilial variability and incomplete penetrance has been reported (Al Turki et al., 2014; Qiao et al., 2018). Some patients exhibit syndromic features such as developmental delay, congenital diaphragmatic hernia, and severe gastroesophageal reflux (High et al., 2016; Upadia et al., 2018). For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 (306955). [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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<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_1617"><div><strong>Coarctation of aorta</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1617</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.">C0003492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1617">Feature record</a> | <a href="/medgen?term=%22Coarctation%20of%20aorta%22%5BClinical%20Features%5D%20OR%201617%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1621"><div><strong>Aortic valve stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1621</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.">C0003507</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a stenosis (narrowing) of the aortic valve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1621">Feature record</a> | <a href="/medgen?term=%22Aortic%20valve%20stenosis%22%5BClinical%20Features%5D%20OR%201621%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</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.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6031"><div><strong>Left ventricular outflow tract obstruction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6031</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.">C0023213</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6031">Feature record</a> | <a href="/medgen?term=%22Left%20ventricular%20outflow%20tract%20obstruction%22%5BClinical%20Features%5D%20OR%206031%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21498"><div><strong>Tetralogy of Fallot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21498</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.">C0039685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21498">Feature record</a> | <a href="/medgen?term=%22Tetralogy%20of%20Fallot%22%5BClinical%20Features%5D%20OR%2021498%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57746"><div><strong>Hypoplastic left heart syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57746</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.">C0152101</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57746">Feature record</a> | <a href="/medgen?term=%22Hypoplastic%20left%20heart%20syndrome%22%5BClinical%20Features%5D%20OR%2057746%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_235591"><div><strong>Atrioventricular canal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235591</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.">C1389016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the atrioventricular septum of the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235591">Feature record</a> | <a href="/medgen?term=%22Atrioventricular%20canal%20defect%22%5BClinical%20Features%5D%20OR%20235591%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><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_1621" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortic valve stenosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_235591" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular canal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1617" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coarctation of aorta</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57746" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplastic left heart syndrome</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6031" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left ventricular outflow tract obstruction</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetralogy of Fallot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</a></span></li></ul></li></ul></div></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></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN029142[DISCUI]&test_type=Clinical" ref="ncbi_uid=1813070">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1813070" ref="ncbi_uid=1813070">V</a></span></span><span class="TLline"><a href="/medgen/1813070" ref="tree=GTR&ncbi_uid=1813070&link_uid=1813070" title="View MedGen record for 'Familial atrioventricular septal defect'">Familial atrioventricular septal defect</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1389018[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=501123">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=501123" target="_blank" href="/omim/606215">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/501123" ref="tree=GTR&ncbi_uid=501123&link_uid=501123" title="View MedGen record for 'Atrioventricular septal defect'">Atrioventricular septal defect</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280781[DISCUI]&test_type=Clinical" ref="ncbi_uid=482411">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482411" target="_blank" href="/omim/600576">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=482411" ref="ncbi_uid=482411">V</a></span></span><span class="TLline"><a href="/medgen/482411" ref="tree=GTR&ncbi_uid=482411&link_uid=482411" title="View MedGen record for 'Atrioventricular septal defect 4'">Atrioventricular septal defect 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280939[DISCUI]&test_type=Clinical" ref="ncbi_uid=482569">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482569" target="_blank" href="/omim/601656">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=482569" ref="ncbi_uid=482569">V</a></span></span><span class="TLline"><a href="/medgen/482569" ref="tree=GTR&ncbi_uid=482569&link_uid=482569" title="View MedGen record for 'Atrioventricular septal defect 5'">Atrioventricular septal defect 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853508[DISCUI]&test_type=Clinical" ref="ncbi_uid=381193">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381193" target="_blank" href="/omim/606217">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=381193" ref="ncbi_uid=381193">V</a></span></span><span class="TLline"><a href="/medgen/381193" ref="tree=GTR&ncbi_uid=381193&link_uid=381193" title="View MedGen record for 'Atrioventricular septal defect, susceptibility to, 2'">Atrioventricular septal defect, susceptibility to, 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/65132" ref="tree=GTR&ncbi_uid=65132&link_uid=65132" title="View MedGen record for 'Complete atrioventricular canal'">Complete atrioventricular canal</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/959993" ref="tree=GTR&ncbi_uid=959993&link_uid=959993" title="View MedGen record for 'Complete atrioventricular canal-left heart obstruction syndrome'">Complete atrioventricular canal-left heart obstruction syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/768726" ref="tree=GTR&ncbi_uid=768726&link_uid=768726" title="View MedGen record for 'Complete atrioventricular canal-tetralogy of fallot syndrome'">Complete atrioventricular canal-tetralogy of fallot syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842918" ref="tree=GTR&ncbi_uid=1842918&link_uid=1842918" title="View MedGen record for 'Complete atrioventricular canal-ventricle hypoplasia syndrome'">Complete atrioventricular canal-ventricle hypoplasia syndrome</a></span></li></ul></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014310[DISCUI]&test_type=Clinical" ref="ncbi_uid=862747">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=862747" target="_blank" href="/omim/107773">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=862747" ref="ncbi_uid=862747">V</a></span></span><span class="TLline">Congenital heart defects, multiple types, 4</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/868879" ref="tree=GTR&ncbi_uid=868879&link_uid=868879" title="View MedGen record for 'Partial atrioventricular canal'">Partial atrioventricular canal</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1813070" ref="tree=MeSH" title="MedGen record for Familial atrioventricular septal defect">Familial atrioventricular septal defect</a></span><ul><li><span class="matched_ds">Congenital heart defects, multiple types, 4</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29945508">Single Ventricle and Total Anomalous Pulmonary Venous Connection: Implications of Prenatal Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hancock HS,
|
||
Romano JC,
|
||
Armstrong A,
|
||
Yu S,
|
||
Lowery R,
|
||
Gelehrter S</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
|
||
2018 Jul;9(4):434-439.
|
||
doi: 10.1177/2150135118771344.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29945508" target="_blank">29945508</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22234154">Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wellesley D,
|
||
Dolk H,
|
||
Boyd PA,
|
||
Greenlees R,
|
||
Haeusler M,
|
||
Nelen V,
|
||
Garne E,
|
||
Khoshnood B,
|
||
Doray B,
|
||
Rissmann A,
|
||
Mullaney C,
|
||
Calzolari E,
|
||
Bakker M,
|
||
Salvador J,
|
||
Addor MC,
|
||
Draper E,
|
||
Rankin J,
|
||
Tucker D</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 May;20(5):521-6.
|
||
Epub 2012 Jan 11
|
||
doi: 10.1038/ejhg.2011.246.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22234154" target="_blank">22234154</a><a href="/pmc/articles/PMC3330224" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21254147">Prenatal diagnosis of abnormal cardinal systemic venous return without other heart defects: a case series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barrea C,
|
||
Ovaert C,
|
||
Moniotte S,
|
||
Biard JM,
|
||
Steenhaut P,
|
||
Bernard P</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2011 Apr;31(4):380-8.
|
||
Epub 2011 Jan 20
|
||
doi: 10.1002/pd.2699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21254147" target="_blank">21254147</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20heart%20defects%2C%20multiple%20types%2C%204)%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 (12)</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/31291209">Drug-Drug Interactions (DDIs) in Psychiatric Practice, Part 6: Pharmacodynamic Considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Preskorn SH</span><br />
|
||
<span class="medgenPMjournal">J Psychiatr Pract</span>
|
||
2019 Jul;25(4):290-297.
|
||
doi: 10.1097/PRA.0000000000000399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31291209" target="_blank">31291209</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26679154">Risk factors of different congenital heart defects in Guangdong, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ou Y,
|
||
Mai J,
|
||
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<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
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Gnazzo M,
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Lepri F,
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Dentici ML,
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Pisaneschi E,
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Baban A,
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Passarelli C,
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Angioni A,
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<span class="bold">PMID: </span><a href="/pubmed/28884922" target="_blank">28884922</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%204%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 (69)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31291209">Drug-Drug Interactions (DDIs) in Psychiatric Practice, Part 6: Pharmacodynamic Considerations.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/6736443">Multiple circus movement tachycardias with multiple accessory pathways.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Heddle WF,
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Brugada P,
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<span class="bold">PMID: </span><a href="/pubmed/38836834" target="_blank">38836834</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36006061">Partial Anomalous Left Pulmonary Artery Anterior Versus Posterior Types: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Restrepo CS,
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Gonzalez TV,
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Baxi AJ,
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<span class="bold">PMID: </span><a href="/pubmed/36006061" target="_blank">36006061</a><a href="/pmc/articles/PMC9416361" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33683997">Updating an Empirically Based Tool for Analyzing Congenital Heart Surgery Mortality.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jacobs ML,
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Jacobs JP,
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Thibault D,
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Anderson BR,
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Eghtesady P,
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<div class="nl"><a target="_blank" href="/pubmed/31291209">Drug-Drug Interactions (DDIs) in Psychiatric Practice, Part 6: Pharmacodynamic Considerations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Preskorn SH</span><br />
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<span class="medgenPMjournal">J Psychiatr Pract</span>
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2019 Jul;25(4):290-297.
|
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doi: 10.1097/PRA.0000000000000399.
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<span class="bold">PMID: </span><a href="/pubmed/31291209" target="_blank">31291209</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19770335">Anomalies of visceroatrial situs.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ghosh S,
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Yarmish G,
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Godelman A,
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Haramati LB,
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Spindola-Franco H</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/19770335" target="_blank">19770335</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%204%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 (45)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/36567274">A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
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Dai X,
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Liu H,
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<span class="medgenPMjournal">Prenat Diagn</span>
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2023 Mar;43(3):275-279.
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Epub 2022 Dec 30
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doi: 10.1002/pd.6294.
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<span class="bold">PMID: </span><a href="/pubmed/36567274" target="_blank">36567274</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/31291209">Drug-Drug Interactions (DDIs) in Psychiatric Practice, Part 6: Pharmacodynamic Considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Preskorn SH</span><br />
|
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<span class="medgenPMjournal">J Psychiatr Pract</span>
|
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2019 Jul;25(4):290-297.
|
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doi: 10.1097/PRA.0000000000000399.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31291209" target="_blank">31291209</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28884922">Congenital heart defects in molecularly proven Kabuki syndrome patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
|
||
Gnazzo M,
|
||
Lepri F,
|
||
Dentici ML,
|
||
Pisaneschi E,
|
||
Baban A,
|
||
Passarelli C,
|
||
Capolino R,
|
||
Angioni A,
|
||
Novelli A,
|
||
Marino B,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2017 Nov;173(11):2912-2922.
|
||
Epub 2017 Sep 8
|
||
doi: 10.1002/ajmg.a.38417.
|
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<span class="bold">PMID: </span><a href="/pubmed/28884922" target="_blank">28884922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19770335">Anomalies of visceroatrial situs.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ghosh S,
|
||
Yarmish G,
|
||
Godelman A,
|
||
Haramati LB,
|
||
Spindola-Franco H</span><br />
|
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<span class="medgenPMjournal">AJR Am J Roentgenol</span>
|
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2009 Oct;193(4):1107-17.
|
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doi: 10.2214/AJR.09.2411.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19770335" target="_blank">19770335</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6736443">Multiple circus movement tachycardias with multiple accessory pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heddle WF,
|
||
Brugada P,
|
||
Wellens HJ</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
1984 Jul;4(1):168-75.
|
||
doi: 10.1016/s0735-1097(84)80336-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6736443" target="_blank">6736443</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%204%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 (40)</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/36006061">Partial Anomalous Left Pulmonary Artery Anterior Versus Posterior Types: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Restrepo CS,
|
||
Gonzalez TV,
|
||
Baxi AJ,
|
||
Saboo SS</span><br />
|
||
<span class="medgenPMjournal">Tomography</span>
|
||
2022 Jul 27;8(4):1947-1958.
|
||
doi: 10.3390/tomography8040163.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36006061" target="_blank">36006061</a><a href="/pmc/articles/PMC9416361" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24773223">A systematic review on the efficacy and safety of transcatheter device closure of ventricular septal defects (VSD).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
|
||
Tai BC,
|
||
Khin LW,
|
||
Quek SC</span><br />
|
||
<span class="medgenPMjournal">J Interv Cardiol</span>
|
||
2014 Jun;27(3):260-72.
|
||
Epub 2014 Apr 29
|
||
doi: 10.1111/joic.12121.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24773223" target="_blank">24773223</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%204%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>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4014310%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
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<li><a href="/gtr/tests?term=C4014310%5bDISCUI%5d&filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
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<li><a href="/gtr/tests?term=C4014310%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
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<li><a href="/gtr/tests?term=C4014310%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
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