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<meta name="keywords" content="C5830367, chtd9, congenital abnormality, congenital heart defects, multiple types, 9, plxnd1, 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="Multiple types of congenital heart defects-9 (CHTD9) is characterized by common arterial trunk (truncus arteriosus communis) in most patients, associated with other cardiac defects, including tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies (Ta-Shma et al., 2013; Guimier et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 (see 306955)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1841003
|
||
ConceptID=C5830367
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital heart defects, multiple types, 9<span class="h1sub">(CHTD9)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841003</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:">C5830367</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>CHTD9</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="PLXND1 - ID: 23129 - NCBI Gene" href="/gene/23129" class="medgenPMinfo">PLXND1</a> (3q22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859532" target="_blank">MONDO:0859532</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/620294" target="_blank">620294</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">Multiple types of congenital heart defects-9 (CHTD9) is characterized by common arterial trunk (truncus arteriosus communis) in most patients, associated with other cardiac defects, including tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies (Ta-Shma et al., 2013; Guimier et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of multiple types of congenital heart defects, see CHTD1 (see 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">
|
||
<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_41649"><div><strong>Double outlet right ventricle</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41649</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.">C0013069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41649">Feature record</a> | <a href="/medgen?term=%22Double%20outlet%20right%20ventricle%22%5BClinical%20Features%5D%20OR%2041649%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21245"><div><strong>Transposition of the great arteries</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21245</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.">C0040761</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</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\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.\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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21245">Feature record</a> | <a href="/medgen?term=%22Transposition%20of%20the%20great%20arteries%22%5BClinical%20Features%5D%20OR%2021245%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52867"><div><strong>Persistent truncus arteriosus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52867</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.">C0041207</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52867">Feature record</a> | <a href="/medgen?term=%22Persistent%20truncus%20arteriosus%22%5BClinical%20Features%5D%20OR%2052867%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\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.\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.</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_534423"><div><strong>Left axis deviation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>534423</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.">C0232297</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/534423">Feature record</a> | <a href="/medgen?term=%22Left%20axis%20deviation%22%5BClinical%20Features%5D%20OR%20534423%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_82723"><div><strong>Pulmonary artery atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82723</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.">C0265908</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82723">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20artery%20atresia%22%5BClinical%20Features%5D%20OR%2082723%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_91035"><div><strong>Mitral atresia disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91035</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.">C0344760</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital defect with failure to open of the mitral valve orifice.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91035">Feature record</a> | <a href="/medgen?term=%22Mitral%20atresia%20disorder%22%5BClinical%20Features%5D%20OR%2091035%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_408291"><div><strong>Pulmonic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408291</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.">C1956257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/408291">Feature record</a> | <a href="/medgen?term=%22Pulmonic%20stenosis%22%5BClinical%20Features%5D%20OR%20408291%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1372352"><div><strong>Arteria lusoria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1372352</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.">C2004632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Usually, three large arteries arise from the arch of the aorta</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1372352">Feature record</a> | <a href="/medgen?term=%22Arteria%20lusoria%22%5BClinical%20Features%5D%20OR%201372352%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_482570"><div><strong>Unbalanced atrioventricular canal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482570</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.">C3280940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482570">Feature record</a> | <a href="/medgen?term=%22Unbalanced%20atrioventricular%20canal%20defect%22%5BClinical%20Features%5D%20OR%20482570%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_868823"><div><strong>Single ventricle of indeterminate morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>868823</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.">C4023233</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/868823">Feature record</a> | <a href="/medgen?term=%22Single%20ventricle%20of%20indeterminate%20morphology%22%5BClinical%20Features%5D%20OR%20868823%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1633176"><div><strong>Aortopulmonary collateral arteries</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633176</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.">C4703564</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1633176">Feature record</a> | <a href="/medgen?term=%22Aortopulmonary%20collateral%20arteries%22%5BClinical%20Features%5D%20OR%201633176%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4693"><div><strong>Fetal growth restriction</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4693</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.">C0015934</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4693">Feature record</a> | <a href="/medgen?term=%22Fetal%20growth%20restriction%22%5BClinical%20Features%5D%20OR%204693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65980"><div><strong>Low-set ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65980</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.">C0239234</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65980">Feature record</a> | <a href="/medgen?term=%22Low-set%20ears%22%5BClinical%20Features%5D%20OR%2065980%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_781174"><div><strong>Pectus excavatum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>781174</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.">C2051831</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/781174">Feature record</a> | <a href="/medgen?term=%22Pectus%20excavatum%22%5BClinical%20Features%5D%20OR%20781174%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_60195"><div><strong>Cystic hygroma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>60195</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.">C0206620</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Neoplastic Process</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cystic lymphatic lesion of the neck.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/60195">Feature record</a> | <a href="/medgen?term=%22Cystic%20hygroma%22%5BClinical%20Features%5D%20OR%2060195%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_60195" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cystic hygroma</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_1633176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aortopulmonary collateral arteries</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1372352" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arteria lusoria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Double outlet right ventricle</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_534423" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Left axis deviation</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_91035" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitral atresia disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent truncus arteriosus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_82723" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary artery atresia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_408291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonic stenosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_868823" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Single ventricle of indeterminate morphology</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21245" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transposition of the great arteries</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_482570" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Unbalanced atrioventricular canal defect</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_781174" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pectus excavatum</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65980" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Low-set ears</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal growth restriction</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/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/22665413">Dynamic evolution of practice guidelines: analysis of deviations from assessment and management plans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farias M,
|
||
Friedman KG,
|
||
Powell AJ,
|
||
de Ferranti SD,
|
||
Marshall AC,
|
||
Brown DW,
|
||
Kulik TJ</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2012 Jul;130(1):93-8.
|
||
Epub 2012 Jun 4
|
||
doi: 10.1542/peds.2011-3811.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22665413" target="_blank">22665413</a><a href="/pmc/articles/PMC9923529" target="_blank" class="PubMedFree">Free PMC Article</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20heart%20defects%2C%20multiple%20types%2C%209)%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 (7)</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/30790186">Neonatal Jaundice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbey P,
|
||
Kandasamy D,
|
||
Naranje P</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2019 Sep;86(9):830-841.
|
||
Epub 2019 Feb 21
|
||
doi: 10.1007/s12098-019-02856-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30790186" target="_blank">30790186</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30066535">Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldacci S,
|
||
Gorini F,
|
||
Santoro M,
|
||
Pierini A,
|
||
Minichilli F,
|
||
Bianchi F</span><br />
|
||
<span class="medgenPMjournal">Epidemiol Prev</span>
|
||
2018 May-Aug;42(3-4 Suppl 1):1-34.
|
||
doi: 10.19191/EP18.3-4.S1.P001.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30066535" target="_blank">30066535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29106500">Familial co-occurrence of congenital heart defects follows distinct patterns.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellesøe SG,
|
||
Workman CT,
|
||
Bouvagnet P,
|
||
Loffredo CA,
|
||
McBride KL,
|
||
Hinton RB,
|
||
van Engelen K,
|
||
Gertsen EC,
|
||
Mulder BJM,
|
||
Postma AV,
|
||
Anderson RH,
|
||
Hjortdal VE,
|
||
Brunak S,
|
||
Larsen LA</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2018 Mar 21;39(12):1015-1022.
|
||
doi: 10.1093/eurheartj/ehx314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29106500" target="_blank">29106500</a><a href="/pmc/articles/PMC6018923" target="_blank" class="PubMedFree">Free PMC Article</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,
|
||
Zhuang J,
|
||
Liu X,
|
||
Wu Y,
|
||
Gao X,
|
||
Nie Z,
|
||
Qu Y,
|
||
Chen J,
|
||
Kielb C,
|
||
Lauper U,
|
||
Lin S</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2016 Apr;79(4):549-58.
|
||
Epub 2015 Dec 17
|
||
doi: 10.1038/pr.2015.264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26679154" target="_blank">26679154</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23558868">Congenital heart defects in Kabuki syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM</span><br />
|
||
<span class="medgenPMjournal">Cardiol J</span>
|
||
2013;20(2):121-4.
|
||
doi: 10.5603/CJ.2013.0023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23558868" target="_blank">23558868</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%209%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 (65)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34971082">Congenital heart defects in molecularly confirmed KBG syndrome patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
|
||
Calcagni G,
|
||
Gnazzo M,
|
||
Versacci P,
|
||
Dentici ML,
|
||
Capolino R,
|
||
Sinibaldi L,
|
||
Baban A,
|
||
Putotto C,
|
||
Alfieri P,
|
||
Unolt M,
|
||
Lepri FR,
|
||
Alesi V,
|
||
Genovese S,
|
||
Novelli A,
|
||
Marino B,
|
||
Dallapiccola B</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Apr;188(4):1149-1159.
|
||
Epub 2021 Dec 31
|
||
doi: 10.1002/ajmg.a.62632.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34971082" target="_blank">34971082</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30790186">Neonatal Jaundice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abbey P,
|
||
Kandasamy D,
|
||
Naranje P</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2019 Sep;86(9):830-841.
|
||
Epub 2019 Feb 21
|
||
doi: 10.1007/s12098-019-02856-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30790186" target="_blank">30790186</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30066535">Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldacci S,
|
||
Gorini F,
|
||
Santoro M,
|
||
Pierini A,
|
||
Minichilli F,
|
||
Bianchi F</span><br />
|
||
<span class="medgenPMjournal">Epidemiol Prev</span>
|
||
2018 May-Aug;42(3-4 Suppl 1):1-34.
|
||
doi: 10.19191/EP18.3-4.S1.P001.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30066535" target="_blank">30066535</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25238977">Simpson-Golabi-Behmel syndrome types I and II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tenorio J,
|
||
Arias P,
|
||
Martínez-Glez V,
|
||
Santos F,
|
||
García-Miñaur S,
|
||
Nevado J,
|
||
Lapunzina P</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2014 Sep 20;9:138.
|
||
doi: 10.1186/s13023-014-0138-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25238977" target="_blank">25238977</a><a href="/pmc/articles/PMC4254265" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23558868">Congenital heart defects in Kabuki syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM</span><br />
|
||
<span class="medgenPMjournal">Cardiol J</span>
|
||
2013;20(2):121-4.
|
||
doi: 10.5603/CJ.2013.0023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23558868" target="_blank">23558868</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%209%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 (51)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38595321">Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bessis D,
|
||
Bursztejn AC,
|
||
Morice-Picard F,
|
||
Capri Y,
|
||
Barbarot S,
|
||
Aubert H,
|
||
Bodet D,
|
||
Bourrat E,
|
||
Chiaverini C,
|
||
Poujade L,
|
||
Willems M,
|
||
Rouanet J,
|
||
Dompmartin-Blanchère A,
|
||
Geneviève D,
|
||
Gerard M,
|
||
Ginglinger E,
|
||
Hadj-Rabia S,
|
||
Martin L,
|
||
Mazereeuw-Hautier J,
|
||
Bibas N,
|
||
Molinari N,
|
||
Herman F,
|
||
Phan A,
|
||
Rod J,
|
||
Roger H,
|
||
Sigaudy S,
|
||
Ziegler A,
|
||
Vial Y,
|
||
Verloes A,
|
||
Cavé H,
|
||
Lacombe D</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2024 Sep;38(9):1818-1827.
|
||
Epub 2024 Apr 10
|
||
doi: 10.1111/jdv.19996.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38595321" target="_blank">38595321</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36402175">Sixth Annual Pediatric Interagency Registry for Mechanical Circulatory Support (Pedimacs) Report: The Society Of Thoracic Surgeons Pedimacs Annual Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Adachi I,
|
||
Peng DM,
|
||
Hollander SA,
|
||
Simpson KE,
|
||
Davies RR,
|
||
Jacobs JP,
|
||
VanderPluym CJ,
|
||
Fynn-Thompson F,
|
||
Wells DA,
|
||
Law SP,
|
||
Amdani S,
|
||
Cantor R,
|
||
Koehl D,
|
||
Kirklin JK,
|
||
Morales DLS,
|
||
Rossano JW;
|
||
Pedimacs Investigators</span><br />
|
||
<span class="medgenPMjournal">Ann Thorac Surg</span>
|
||
2023 May;115(5):1098-1108.
|
||
Epub 2022 Nov 17
|
||
doi: 10.1016/j.athoracsur.2022.10.042.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36402175" target="_blank">36402175</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30066535">Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldacci S,
|
||
Gorini F,
|
||
Santoro M,
|
||
Pierini A,
|
||
Minichilli F,
|
||
Bianchi F</span><br />
|
||
<span class="medgenPMjournal">Epidemiol Prev</span>
|
||
2018 May-Aug;42(3-4 Suppl 1):1-34.
|
||
doi: 10.19191/EP18.3-4.S1.P001.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30066535" target="_blank">30066535</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 class="nl"><a target="_blank" href="/pubmed/22811060">Association between maternal occupational exposure to organic solvents and congenital heart defects, National Birth Defects Prevention Study, 1997-2002.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gilboa SM,
|
||
Desrosiers TA,
|
||
Lawson C,
|
||
Lupo PJ,
|
||
Riehle-Colarusso TJ,
|
||
Stewart PA,
|
||
van Wijngaarden E,
|
||
Waters MA,
|
||
Correa A;
|
||
National Birth Defects Prevention Study</span><br />
|
||
<span class="medgenPMjournal">Occup Environ Med</span>
|
||
2012 Sep;69(9):628-35.
|
||
Epub 2012 Jul 17
|
||
doi: 10.1136/oemed-2011-100536.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22811060" target="_blank">22811060</a><a href="/pmc/articles/PMC4472304" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%209%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 (18)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36002837">RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng S,
|
||
Huang H,
|
||
Ma L,
|
||
Zhu T</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2022 Aug 24;15(1):184.
|
||
doi: 10.1186/s12920-022-01336-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36002837" target="_blank">36002837</a><a href="/pmc/articles/PMC9400306" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35508600">CTA analysis of 482 cases of coronary artery fistula: A large-scale imaging study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cai R,
|
||
Ma X,
|
||
Zhao X,
|
||
Xu J,
|
||
Zhu L,
|
||
Ku L</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2022 Jul;37(7):2172-2181.
|
||
Epub 2022 May 4
|
||
doi: 10.1111/jocs.16500.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35508600" target="_blank">35508600</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33683997">Updating an Empirically Based Tool for Analyzing Congenital Heart Surgery Mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobs ML,
|
||
Jacobs JP,
|
||
Thibault D,
|
||
Hill KD,
|
||
Anderson BR,
|
||
Eghtesady P,
|
||
Karamlou T,
|
||
Kumar SR,
|
||
Mayer JE,
|
||
Mery CM,
|
||
Nathan M,
|
||
Overman DM,
|
||
Pasquali SK,
|
||
St Louis JD,
|
||
Shahian D,
|
||
O'Brien SM</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
|
||
2021 Mar;12(2):246-281.
|
||
doi: 10.1177/2150135121991528.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33683997" target="_blank">33683997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23558868">Congenital heart defects in Kabuki syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM</span><br />
|
||
<span class="medgenPMjournal">Cardiol J</span>
|
||
2013;20(2):121-4.
|
||
doi: 10.5603/CJ.2013.0023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23558868" target="_blank">23558868</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23349958">A survey of congenital heart disease and other organic malformations associated with different types of orofacial clefts in Eastern China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sun T,
|
||
Tian H,
|
||
Wang C,
|
||
Yin P,
|
||
Zhu Y,
|
||
Chen X,
|
||
Tang Z</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(1):e54726.
|
||
Epub 2013 Jan 21
|
||
doi: 10.1371/journal.pone.0054726.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23349958" target="_blank">23349958</a><a href="/pmc/articles/PMC3549991" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%209%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 (35)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39715759">The molecular mechanisms of cardiac development and related diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li Y,
|
||
Du J,
|
||
Deng S,
|
||
Liu B,
|
||
Jing X,
|
||
Yan Y,
|
||
Liu Y,
|
||
Wang J,
|
||
Zhou X,
|
||
She Q</span><br />
|
||
<span class="medgenPMjournal">Signal Transduct Target Ther</span>
|
||
2024 Dec 23;9(1):368.
|
||
doi: 10.1038/s41392-024-02069-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39715759" target="_blank">39715759</a><a href="/pmc/articles/PMC11666744" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33683997">Updating an Empirically Based Tool for Analyzing Congenital Heart Surgery Mortality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jacobs ML,
|
||
Jacobs JP,
|
||
Thibault D,
|
||
Hill KD,
|
||
Anderson BR,
|
||
Eghtesady P,
|
||
Karamlou T,
|
||
Kumar SR,
|
||
Mayer JE,
|
||
Mery CM,
|
||
Nathan M,
|
||
Overman DM,
|
||
Pasquali SK,
|
||
St Louis JD,
|
||
Shahian D,
|
||
O'Brien SM</span><br />
|
||
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
|
||
2021 Mar;12(2):246-281.
|
||
doi: 10.1177/2150135121991528.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33683997" target="_blank">33683997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32947864">RBM10, a New Regulator of p53.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jung JH,
|
||
Lee H,
|
||
Zeng SX,
|
||
Lu H</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2020 Sep 16;9(9)
|
||
doi: 10.3390/cells9092107.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32947864" target="_blank">32947864</a><a href="/pmc/articles/PMC7563659" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29106500">Familial co-occurrence of congenital heart defects follows distinct patterns.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ellesøe SG,
|
||
Workman CT,
|
||
Bouvagnet P,
|
||
Loffredo CA,
|
||
McBride KL,
|
||
Hinton RB,
|
||
van Engelen K,
|
||
Gertsen EC,
|
||
Mulder BJM,
|
||
Postma AV,
|
||
Anderson RH,
|
||
Hjortdal VE,
|
||
Brunak S,
|
||
Larsen LA</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2018 Mar 21;39(12):1015-1022.
|
||
doi: 10.1093/eurheartj/ehx314.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29106500" target="_blank">29106500</a><a href="/pmc/articles/PMC6018923" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25238977">Simpson-Golabi-Behmel syndrome types I and II.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tenorio J,
|
||
Arias P,
|
||
Martínez-Glez V,
|
||
Santos F,
|
||
García-Miñaur S,
|
||
Nevado J,
|
||
Lapunzina P</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2014 Sep 20;9:138.
|
||
doi: 10.1186/s13023-014-0138-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25238977" target="_blank">25238977</a><a href="/pmc/articles/PMC4254265" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%209%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 (27)</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/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%209%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=620294" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Congenital%20heart%20defects,%20multiple%20types,%209" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(congenital%20heart%20defects%2C%20multiple%20types%2C%209)%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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|
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></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=604282" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=23129[geneid]" target="_blank">View PLXND1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=620294" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/congenital_heart_defects_multiple_types_9" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Congenital%20heart%20defects,%20multiple%20types,%209" target="_blank">MedlinePlus</a></li></ul></div>
|
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|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
|
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<h3>Reviews</h3>
|
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</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
|
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<ul>
|
||
<li>
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||
<a href="/pubmed/clinical?term=Congenital%20heart%20defects,%20multiple%20types,%209" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Congenital%20heart%20defects,%20multiple%20types,%209%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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||
</li>
|
||
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|
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|
||
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|
||
|
||
<!-- MedGen supplemental column ends here -->
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||
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<h3>Related information</h3>
|
||
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||
</div>
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||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841003" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
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<li class="brieflinkpopper">
|
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<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=1841003" ref="log$=recordlinks">Gene</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
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|
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<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=1841003" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
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||
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|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=1841003" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=1841003" ref="log$=recordlinks">PMC Articles</a>
|
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<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
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<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=1841003" ref="log$=recordlinks">PubMed</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<li class="brieflinkpopper">
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||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1841003" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
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|
||
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||
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|
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<div class="portlet">
|
||
<div class="portlet_head">
|
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<div class="portlet_title">
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<h3>Recent activity</h3>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
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||
Turn Off
|
||
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|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ccf169f4a390645e8d0c61">Congenital heart defects, multiple types, 9</a>
|
||
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