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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
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||
UID=21245
|
||
ConceptID=C0040761
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Transposition of the great arteries</div></h1><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><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Great Arteries Transposition; Great Arteries Transpositions; Great Vessels Transposition; Great Vessels Transpositions; Transposition of Great Arteries; Transposition of Great Vessels</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Total great vessel transposition (26146002); Complete transposition of great vessels (26146002); Classical transposition of great vessels (26146002)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_109109"><div><strong>Non-Mendelian inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>109109</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.">C0600599</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that depends on genetic determinants in more than one gene.</div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_109109" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Non-Mendelian inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/55997">CFC1</a>, <a target="_blank" href="/gene/2657">GDF1</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001669">HP:0001669</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000153" target="_blank">MONDO:0000153</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/602880" target="_blank">602880</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=216675">ORPHA216675</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">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.<br /><br />Although 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.<br /><br />People 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.<br /><br />Some 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.<br /><br />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. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0040761[DISCUI]&test_type=Clinical" ref="ncbi_uid=21245">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=21245" target="_blank" href="/omim/602880">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=21245" ref="ncbi_uid=21245">V</a></span></span><span class="TLline">Transposition of the great arteries</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151221[DISCUI]&test_type=Clinical" ref="ncbi_uid=462571">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462571" target="_blank" href="/omim/602880">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=462571" ref="ncbi_uid=462571">V</a></span></span><span class="TLline"><a href="/medgen/462571" ref="tree=GTR&ncbi_uid=462571&link_uid=462571" title="View MedGen record for 'Congenital heart defects, multiple types, 6'">Congenital heart defects, multiple types, 6</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=C1415817[DISCUI]&test_type=Clinical" ref="ncbi_uid=237904">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=237904" target="_blank" href="/omim/605194">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=237904" ref="ncbi_uid=237904">V</a></span></span><span class="TLline"><a href="/medgen/237904" ref="tree=GTR&ncbi_uid=237904&link_uid=237904" title="View MedGen record for 'Heterotaxy, visceral, 2, autosomal'">Heterotaxy, visceral, 2, autosomal</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=C1837341[DISCUI]&test_type=Clinical" ref="ncbi_uid=332422">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332422" target="_blank" href="/omim/608808">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=332422" ref="ncbi_uid=332422">V</a></span></span><span class="TLline"><a href="/medgen/332422" ref="tree=GTR&ncbi_uid=332422&link_uid=332422" title="View MedGen record for 'Transposition of the great arteries, dextro-looped'">Transposition of the great arteries, dextro-looped</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/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/2848" ref="tree=MeSH" title="MedGen record for Disorder of cardiovascular system">Disorder of cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/116727" ref="tree=MeSH" title="MedGen record for Abnormality of the cardiovascular system">Abnormality of the cardiovascular system</a></span><ul><li><span class="TLline"><a href="/medgen/892473" ref="tree=MeSH" title="MedGen record for Abnormal cardiovascular system morphology">Abnormal cardiovascular system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/6748" ref="tree=MeSH" title="MedGen record for Abnormal heart morphology">Abnormal heart morphology</a></span><ul><li><span class="matched_ds">Transposition of the great arteries</span><ul><li><span class="TLline"><a href="/medgen/462571" ref="tree=MeSH" title="MedGen record for Congenital heart defects, multiple types, 6">Congenital heart defects, multiple types, 6</a></span></li><li><span class="TLline"><a href="/medgen/87489" ref="tree=MeSH" title="MedGen record for Congenitally corrected transposition of the great arteries">Congenitally corrected transposition of the great arteries</a></span><ul><li><span class="TLline"><a href="/medgen/868861" ref="tree=MeSH" title="MedGen record for Congenitally corrected transposition of the great arteries with ventricular septal defect">Congenitally corrected transposition of the great arteries with ventricular septal defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/699062" ref="tree=MeSH" title="MedGen record for D - transposition of the great vessels">D - transposition of the great vessels</a></span></li><li><span class="TLline"><a href="/medgen/1812310" ref="tree=MeSH" title="MedGen record for Dextro-looped transposition of the great arteries">Dextro-looped transposition of the great arteries</a></span><ul><li><span class="TLline"><a href="/medgen/1843053" ref="tree=MeSH" title="MedGen record for Congenitally uncorrected transposition of the great arteries with cardiac malformation">Congenitally uncorrected transposition of the great arteries with cardiac malformation</a></span></li><li><span class="TLline"><a href="/medgen/1842891" ref="tree=MeSH" title="MedGen record for Congenitally uncorrected transposition of the great arteries with coarctation">Congenitally uncorrected transposition of the great arteries with coarctation</a></span></li><li><span class="TLline"><a href="/medgen/1842921" ref="tree=MeSH" title="MedGen record for Isolated congenitally uncorrected transposition of the great arteries">Isolated congenitally uncorrected transposition of the great arteries</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/768659" ref="tree=MeSH" title="MedGen record for Dextro-Transposition of the Great Vessels with Intact Ventricular Septum">Dextro-Transposition of the Great Vessels with Intact Ventricular Septum</a></span></li><li><span class="TLline"><a href="/medgen/768660" ref="tree=MeSH" title="MedGen record for Dextro-Transposition of the Great Vessels with Ventricular Septal Defect">Dextro-Transposition of the Great Vessels with Ventricular Septal Defect</a></span></li><li><span class="TLline"><a href="/medgen/758887" ref="tree=MeSH" title="MedGen record for Dextrotransposition of the great arteries">Dextrotransposition of the great arteries</a></span></li><li><span class="TLline"><a href="/medgen/41649" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle">Double outlet right ventricle</a></span><ul><li><span class="TLline"><a href="/medgen/1842277" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy">Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy</a></span></li><li><span class="TLline"><a href="/medgen/489000" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868837" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/365501" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed subpulmonary ventricular septal defect">Double outlet right ventricle with non-committed subpulmonary ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/868836" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868835" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/1843284" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic or doubly committed ventricular septal defect">Double outlet right ventricle with subaortic or doubly committed ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/798712" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis">Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868834" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/868833" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/365502" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect">Double outlet right ventricle with subpulmonary ventricular septal defect</a></span></li><li><span class="TLline"><a href="/medgen/868832" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis">Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis</a></span></li><li><span class="TLline"><a href="/medgen/408331" ref="tree=MeSH" title="MedGen record for Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis">Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/237904" ref="tree=MeSH" title="MedGen record for Heterotaxy, visceral, 2, autosomal">Heterotaxy, visceral, 2, autosomal</a></span></li><li><span class="TLline"><a href="/medgen/476121" ref="tree=MeSH" title="MedGen record for Levo-Transposition of the Great Arteries">Levo-Transposition of the Great Arteries</a></span></li><li><span class="TLline"><a href="/medgen/699035" ref="tree=MeSH" title="MedGen record for Levotransposition of the great arteries">Levotransposition of the great arteries</a></span></li><li><span class="TLline"><a href="/medgen/332422" ref="tree=MeSH" title="MedGen record for Transposition of the great arteries, dextro-looped">Transposition of the great arteries, dextro-looped</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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<div class="divPopper rprt" id="rdis_140820"><div><strong>Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140820</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.">C0410174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Fukuyama congenital muscular dystrophy (FCMD) is characterized by hypotonia, symmetric generalized muscle weakness, and CNS migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia. Mild, typical, and severe phenotypes are recognized. Onset typically occurs in early infancy with poor suck, weak cry, and floppiness. Affected individuals have contractures of the hips, knees, and interphalangeal joints. Later features include myopathic facial appearance, pseudohypertrophy of the calves and forearms, motor and speech delays, intellectual disability, seizures, ophthalmologic abnormalities including visual impairment and retinal dysplasia, and progressive cardiac involvement after age ten years. Swallowing disturbance occurs in individuals with severe FCMD and in individuals older than age ten years, leading to recurrent aspiration pneumonia and death.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/140820">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_107540"><div><strong>Pentalogy of Cantrell</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107540</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.">C0559483</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107540">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_162917"><div><strong>Simpson-Golabi-Behmel syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162917</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.">C0796154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palate abnormalities); and, commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal issues. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/162917">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_237904"><div><strong>Heterotaxy, visceral, 2, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>237904</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.">C1415817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required. For a discussion of genetic heterogeneity of dextro-looped transposition of the great arteries, see 608808.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/237904">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_373234"><div><strong>Meacham syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>373234</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.">C1837026</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/373234">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_332422"><div><strong>Transposition of the great arteries, dextro-looped</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>332422</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.">C1837341</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/332422">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_336609"><div><strong>Heterotaxy, visceral, 1, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336609</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.">C1844020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11; HTX13 (621079), caused by mutation in the DAND5 gene (609068) on chromosome 19p13; and HTX14 (621080), caused by mutation in the CIROZ gene (619700) on chromosome 1p36. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/336609">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_341214"><div><strong>CHIME syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341214</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.">C1848392</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">CHIME syndrome, also known as Zunich neuroectodermal syndrome, is an extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME). Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties (summary by Ng et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/341214">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_341558"><div><strong>Genito-palato-cardiac syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341558</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.">C1856466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/341558">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_341803"><div><strong>Conotruncal heart malformations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341803</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.">C1857586</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341803">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_393913"><div><strong>Chromosome 1q21.1 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393913</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.">C2675897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The 1q21.1 recurrent deletion itself does not lead to a clinically recognizable syndrome, as some persons with the deletion have no obvious clinical findings. Others have variable findings that most commonly include mildly dysmorphic but nonspecific facial features (>75%), mild intellectual disability or learning disabilities (25%), microcephaly (43%), and eye abnormalities (26%). Other findings can include cardiac defects, genitourinary anomalies, skeletal malformations, joint laxity, and seizures (~23%). Psychiatric and behavioral abnormalities can include autism spectrum disorder, attention-deficit/hyperactivity disorder, and sleep disturbances. Sensorineural hearing loss and recurrent infections /otitis media are rare.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393913">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419019"><div><strong>VACTERL association, X-linked, with or without hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419019</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.">C2931228</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VACTERL is an acronym for vertebral anomalies (similar to those of spondylocostal dysplasia), anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies (urethral atresia with hydronephrosis), and limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb; see 192350). Some patients may have hydrocephalus, which is referred to as VACTERL-H (Briard et al., 1984).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419019">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_444022"><div><strong>Pancreatic hypoplasia-diabetes-congenital heart disease syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444022</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.">C2931296</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited as an autosomal dominant trait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/444022">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462407"><div><strong>Heterotaxy, visceral, 4, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462407</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.">C3151057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462407">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462571"><div><strong>Congenital heart defects, multiple types, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462571</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.">C3151221</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017). For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462571">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_465274"><div><strong>Right atrial isomerism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>465274</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.">C3178806</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/465274">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766590"><div><strong>Heterotaxy, visceral, 6, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766590</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.">C3553676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visceral heterotaxy-6 (HTX6) is characterized by dextrocardia with or without accompanying complex cardiovascular defects, as well as variable manifestations of visceral heterotaxy, including situs inversus totalis (Perles et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766590">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767161"><div><strong>MEGF8-related Carpenter syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767161</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.">C3554247</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767161">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_900924"><div><strong>Cardiac anomalies - developmental delay - facial dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>900924</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.">C4225208</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired intellectual development and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries (summary by Adegbola et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/900924">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902629"><div><strong>Heterotaxy, visceral, 7, autosomal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902629</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.">C4225217</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visceral heterotaxy-7 (HTX7) is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902629">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_902479"><div><strong>VATER association</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>902479</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.">C4225671</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">VATER is a mnemonically useful acronym for the nonrandom association of vertebral defects (V), anal atresia (A), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R). This combination of associated defects was pointed out by Quan and Smith (1972). Nearly all cases have been sporadic. VACTERL is an acronym for an expanded definition of the association that includes cardiac malformations (C) and limb anomalies (L). The VACTERL association is a spectrum of various combinations of its 6 components, which can be a manifestation of several recognized disorders rather than a distinct anatomic or etiologic entity (Khoury et al., 1983). Also see VATER/VACTERL association with hydrocephalus (VACTERL-H; 276950) and VACTERL with or without hydrocephalus (VACTERLX; 314390).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/902479">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1633287"><div><strong>Neu-Laxova syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1633287</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.">C4551478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Serine deficiency disorders include a spectrum of disease ranging from lethal prenatal-onset Neu-Laxova syndrome to serine deficiency with infantile, juvenile, or adult onset. Neu-Laxova syndrome is characterized by severe intrauterine growth deficiency, microcephaly, congenital bilateral cataracts, characteristic dysmorphic features, limb anomalies, and collodion-like ichthyosis. Infants are typically stillborn or die in early infancy. Infantile-onset serine deficiency is characterized by seizures, microcephaly, developmental delay, intellectual disability, and spastic quadriplegia. Individuals that present with juvenile-onset serine deficiency have seizures and many develop spastic quadriplegia. Adult-onset serine deficiency is characterized by progressive axonal polyneuropathy with ataxia and possible cognitive impairment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1633287">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1644017"><div><strong>RAB23-related Carpenter syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644017</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.">C4551510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644017">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1647785"><div><strong>Ververi-Brady syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1647785</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.">C4693824</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ververi-Brady syndrome (VEBRAS) is characterized by mild developmental delay, mildly impaired intellectual development and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1647785">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778119"><div><strong>Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778119</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.">C5542952</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778119">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1794184"><div><strong>Neurodevelopmental disorder with hypotonia and dysmorphic facies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1794184</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.">C5561974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1794184">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1812470"><div><strong>Intellectual developmental disorder, autosomal dominant 66</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1812470</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.">C5677000</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal dominant intellectual developmental disorder-66 (MRD66) is characterized by global developmental delay with mildly to moderately impaired intellectual development and mild speech delay. The phenotype and severity are highly variable. Some patients have behavioral problems or autism spectrum disorder, and about 50% have variable types of seizures. Additional features may include nonspecific dysmorphic facial features, tall or short stature, and mild skeletal anomalies (Rahimi et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1812470">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841003"><div><strong>Congenital heart defects, multiple types, 9</strong><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.">C5830367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841003">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1852921"><div><strong>Ciliary dyskinesia, primary, 52</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1852921</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.">C5882714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary ciliary dyskinesia-52 (CILD52) is an autosomal recessive disorder characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects (summary by Leslie et al., 2022). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1852921">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_900924" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiac anomalies - developmental delay - facial dysmorphism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341214" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">CHIME syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_393913" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 1q21.1 deletion syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1852921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ciliary dyskinesia, primary, 52</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital heart defects, multiple types, 6</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (29)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841003" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital heart defects, multiple types, 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341803" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Conotruncal heart malformations</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genito-palato-cardiac syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336609" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 1, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_237904" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 2, autosomal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462407" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 4, autosomal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766590" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 6, autosomal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heterotaxy, visceral, 7, autosomal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1812470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual developmental disorder, autosomal dominant 66</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_373234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Meacham syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767161" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MEGF8-related Carpenter syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140820" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1633287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neu-Laxova syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1794184" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia and dysmorphic facies</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancreatic hypoplasia-diabetes-congenital heart disease syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_107540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pentalogy of Cantrell</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1644017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">RAB23-related Carpenter syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_465274" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right atrial isomerism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162917" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Simpson-Golabi-Behmel syndrome type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_332422" 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, dextro-looped</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VACTERL association, X-linked, with or without hydrocephalus</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_902479" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">VATER association</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1647785" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ververi-Brady syndrome</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37143366">Management of congenitally corrected transposition from fetal diagnosis to adulthood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kowalik E</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Cardiovasc Ther</span>
|
||
2023 Jun;21(6):389-396.
|
||
Epub 2023 May 9
|
||
doi: 10.1080/14779072.2023.2211264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37143366" target="_blank">37143366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28249633">Clinical guidelines for the management of patients with transposition of the great arteries with intact ventricular septum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Authors/Task Force Members:,
|
||
Sarris GE,
|
||
Balmer C,
|
||
Bonou P,
|
||
Comas JV,
|
||
da Cruz E,
|
||
Di Chiara L,
|
||
Di Donato RM,
|
||
Fragata J,
|
||
Jokinen TE,
|
||
Kirvassilis G,
|
||
Lytrivi I,
|
||
Milojevic M,
|
||
Sharland G,
|
||
Siepe M,
|
||
Stein J,
|
||
Büchel EV,
|
||
Vouhé PR</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2017 Apr;27(3):530-569.
|
||
Epub 2017 Mar 2
|
||
doi: 10.1017/S1047951117000014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28249633" target="_blank">28249633</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28077506">Clinical guidelines for the management of patients with transposition of the great arteries with intact ventricular septum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sarris GE Chairperson Greece,
|
||
Balmer C Switzerland,
|
||
Bonou P Greece,
|
||
Comas JV Spain,
|
||
da Cruz E Usa,
|
||
Chiara LD Italy,
|
||
Di Donato RM United Arab Emirates,
|
||
Fragata J Portugal,
|
||
Jokinen TE Finland,
|
||
Kirvassilis G Usa,
|
||
Lytrivi I Usa,
|
||
Milojevic M Netherlands,
|
||
Sharland G Uk,
|
||
Siepe M Germany,
|
||
Stein J Austria,
|
||
Büchel EV Switzerland,
|
||
Vouhé PR France</span><br />
|
||
<span class="medgenPMjournal">Eur J Cardiothorac Surg</span>
|
||
2017 Jan;51(1):e1-e32.
|
||
doi: 10.1093/ejcts/ezw360.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28077506" target="_blank">28077506</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22transposition%20of%20the%20great%20arteries%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (121)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/CCHD-ACT-Sheet.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hypoxemia, Critical Congenital Heart Disease, 2013</a></h3>
|
||
</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/37939977">Growth of the Neo-Aortic Root and Prognosis of Transposition of the Great Arteries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sengupta A,
|
||
Carreon CK,
|
||
Gauvreau K,
|
||
Lee JM,
|
||
Sanders SP,
|
||
Colan SD,
|
||
Del Nido PJ,
|
||
Mayer JE Jr,
|
||
Nathan M</span><br />
|
||
<span class="medgenPMjournal">J Am Coll Cardiol</span>
|
||
2024 Jan 30;83(4):516-527.
|
||
Epub 2023 Nov 6
|
||
doi: 10.1016/j.jacc.2023.10.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37939977" target="_blank">37939977</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34980460">CT of transposition of the great arteries in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Panayiotou A,
|
||
Thorne S,
|
||
Hudsmith LE,
|
||
Holloway B</span><br />
|
||
<span class="medgenPMjournal">Clin Radiol</span>
|
||
2022 Apr;77(4):e261-e268.
|
||
Epub 2021 Dec 31
|
||
doi: 10.1016/j.crad.2021.12.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34980460" target="_blank">34980460</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10983025">Transposition of the great arteries. Evaluation of the results and current management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atik E</span><br />
|
||
<span class="medgenPMjournal">Arq Bras Cardiol</span>
|
||
2000 Aug;75(2):91-6.
|
||
doi: 10.1590/s0066-782x2000000800001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10983025" target="_blank">10983025</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1274780">Operation results for transposition of the great arteries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stark J</span><br />
|
||
<span class="medgenPMjournal">Adv Cardiol</span>
|
||
1976;17:20-31.
|
||
doi: 10.1159/000398824.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1274780" target="_blank">1274780</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5673596">Transposition of the great arteries. Results of palliation by balloon atrioseptostomy in thirty-one infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rashkind WJ,
|
||
Miller WW</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
1968 Sep;38(3):453-62.
|
||
doi: 10.1161/01.cir.38.3.453.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5673596" target="_blank">5673596</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Transposition%20of%20the%20great%20arteries%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 (2223)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23331587">Cardiac magnetic resonance of the common arterial trunk and transposition of the great arteries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fogel MA,
|
||
Crawford M</span><br />
|
||
<span class="medgenPMjournal">Cardiol Young</span>
|
||
2012 Dec;22(6):677-86.
|
||
doi: 10.1017/S1047951112001710.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23331587" target="_blank">23331587</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20155782">Prenatal diagnosis of double aortic arch and D-transposition of the great arteries: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yao WM,
|
||
Wang JM,
|
||
Huang HF,
|
||
Ye YH</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2010 Apr;30(4):382-3.
|
||
doi: 10.1002/pd.2472.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20155782" target="_blank">20155782</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18703701">Transposition of the great arteries: from fetus to adult.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Skinner J,
|
||
Hornung T,
|
||
Rumball E</span><br />
|
||
<span class="medgenPMjournal">Heart</span>
|
||
2008 Sep;94(9):1227-35.
|
||
doi: 10.1136/hrt.2006.104737.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18703701" target="_blank">18703701</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2712565">Transposition of the great arteries. The Jatene procedure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blonshine SK</span><br />
|
||
<span class="medgenPMjournal">AORN J</span>
|
||
1989 Apr;49(4):973-6, 978-81, 984-7.
|
||
doi: 10.1016/s0001-2092(07)66805-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2712565" target="_blank">2712565</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3847328">Transposition of the great arteries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malinowski P,
|
||
Elixson EM</span><br />
|
||
<span class="medgenPMjournal">Crit Care Nurse</span>
|
||
1985 May-Jun;5(3):35-48.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3847328" target="_blank">3847328</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Transposition%20of%20the%20great%20arteries%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 (1628)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38445853">Angiotensin receptor-neprilysin inhibitor vs. placebo in congenital systemic right ventricular heart failure: the PARACYS-RV trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaix MA,
|
||
Dore A,
|
||
Mondésert B,
|
||
Mongeon FP,
|
||
Roy V,
|
||
Desrosiers-Gagnon C,
|
||
Guertin MC,
|
||
White M,
|
||
Ibrahim R,
|
||
O'Meara E,
|
||
Rouleau JL,
|
||
Khairy P</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2024 Apr 21;45(16):1481-1483.
|
||
doi: 10.1093/eurheartj/ehad890.
|
||
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<div class="nl"><a target="_blank" href="/pubmed/36528500">D-Transposition of the Great Arteries, the Rastelli Procedure, and its Complications: Management of a Complex Reoperation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mehta AR,
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<div class="nl"><a target="_blank" href="/pubmed/27647199">Surgical Treatment of Complete Transposition of the Great Arteries in Newborn.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wu QY,
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<div class="nl"><a target="_blank" href="/pubmed/27490621">L-Transposition of the Great Arteries.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37939977">Growth of the Neo-Aortic Root and Prognosis of Transposition of the Great Arteries.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/37939977" target="_blank">37939977</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/2979920">Arterial switch operation for transposition of the great arteries with intact ventricular septum.</a></div>
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Fontes VF,
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<div class="nl"><a target="_blank" href="/pubmed/38884744">Human Genetics of Defects of Situs.</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/37939977">Growth of the Neo-Aortic Root and Prognosis of Transposition of the Great Arteries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sengupta A,
|
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Carreon CK,
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Gauvreau K,
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Lee JM,
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Sanders SP,
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Colan SD,
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Del Nido PJ,
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Mayer JE Jr,
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Nathan M</span><br />
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<span class="medgenPMjournal">J Am Coll Cardiol</span>
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2024 Jan 30;83(4):516-527.
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Epub 2023 Nov 6
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doi: 10.1016/j.jacc.2023.10.023.
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<span class="bold">PMID: </span><a href="/pubmed/37939977" target="_blank">37939977</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31875326">Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Minnella GP,
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Crupano FM,
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Syngelaki A,
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Zidere V,
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Akolekar R,
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Nicolaides KH</span><br />
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<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
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2020 May;55(5):637-644.
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<span class="bold">PMID: </span><a href="/pubmed/31875326" target="_blank">31875326</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30160304">Transposition of the great arteries: When echocardiography does not match the clinical picture.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dhillon GS,
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Fernandes CJ,
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Khan A,
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Heinle JS,
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4170882">Transposition of the great arteries: clinical and physiological observations on 74 patients treated by palliative surgery.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Plauth WH Jr,
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Nadas AS,
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Bernhard WF,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Transposition%20of%20the%20great%20arteries%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 (958)</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/37965690">Neurodevelopment outcomes in the first 5 years of the life of children with transposition of the great arteries surgically corrected in the neonatal period: systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Soares C,
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Vieira RJ,
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Costa S,
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Moita R,
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Andrade M,
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Guimarães H</span><br />
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<span class="medgenPMjournal">Cardiol Young</span>
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2023 Dec;33(12):2471-2480.
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||
Epub 2023 Nov 15
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||
doi: 10.1017/S104795112300375X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37965690" target="_blank">37965690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37433408">Long-term outcome of patients with transposition of the great arteries and a systemic right ventricle: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ansari Ramandi MM,
|
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Yarmohammadi H,
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Gareb B,
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Voors AA,
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van Melle JP</span><br />
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<span class="medgenPMjournal">Int J Cardiol</span>
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2023 Oct 15;389:131159.
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Epub 2023 Jul 9
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doi: 10.1016/j.ijcard.2023.131159.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37433408" target="_blank">37433408</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36847766">Outcomes After Anatomic Versus Physiologic Repair of Congenitally Corrected Transposition of the Great Arteries: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anzai I,
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Zhao Y,
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Dimagli A,
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Pearsall C,
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LaForest M,
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Bacha E,
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Kalfa D</span><br />
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<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
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2023 Jan;14(1):70-76.
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||
doi: 10.1177/21501351221127894.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36847766" target="_blank">36847766</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32041458">Prenatal risk factors for urgent atrial septostomy at birth in fetuses with transposition of the great arteries: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buca D,
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Winberg P,
|
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Rizzo G,
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Khalil A,
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Liberati M,
|
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Makatsariya A,
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Greco F,
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Nappi L,
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Acharya G,
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D'Antonio F</span><br />
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<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
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2022 Feb;35(3):598-606.
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Epub 2020 Feb 10
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doi: 10.1080/14767058.2020.1725883.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32041458" target="_blank">32041458</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31642369">Predictors of Late Mortality in D-Transposition of the Great Arteries After Atrial Switch Repair: Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venkatesh P,
|
||
Evans AT,
|
||
Maw AM,
|
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Pashun RA,
|
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Patel A,
|
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Kim L,
|
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Feldman D,
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Minutello R,
|
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Wong SC,
|
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Stribling JC,
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LaPar D,
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Ginns J,
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<span class="bold">PMID: </span><a href="/pubmed/31642369" target="_blank">31642369</a><a href="/pmc/articles/PMC6898856" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Transposition%20of%20the%20great%20arteries%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 (24)</a></div></div>
|
||
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|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0040761%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
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<li><a href="/gtr/tests?term=C0040761%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0040761%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=216675" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Transposition%20of%20the%20great%20arteries" 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=(%22transposition%20of%20the%20great%20arteries%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Transposition%20of%20the%20great%20arteries%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/CCHD-ACT-Sheet.pdf">ACMG ACT, 2013</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Hypoxemia, Critical Congenital Heart Disease, 2013</div></li></ul></div>
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