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<meta name="keywords" content="C3554194, chtd3, congenital heart defects, multiple types, 3, congenital heart defects, multiple types, with cardiac rhythm and conduction disturbances, disease or syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Multiple types of congenital heart defects-3 (CHTD3) is an autosomal dominant condition characterized by various types of congenital heart defects and low atrial rhythm (van de Meerakker et al., 2011).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Congenital heart defects, multiple types, 3 (Concept Id: C3554194)
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<!--
UID=767108
ConceptID=C3554194
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Congenital heart defects, multiple types, 3<span class="h1sub">(CHTD3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767108</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)&#10;Click for more information."><span class="highlight" style="background-color:">C3554194</span></a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>CHTD3; CONGENITAL HEART DEFECTS, MULTIPLE TYPES, WITH CARDIAC RHYTHM AND CONDUCTION DISTURBANCES</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0013988" target="_blank">MONDO:0013988</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/614954" target="_blank">614954</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">Multiple types of congenital heart defects-3 (CHTD3) is an autosomal dominant condition characterized by various types of congenital heart defects and low atrial rhythm (van de Meerakker et al., 2011).&#13; For a general phenotypic description and a discussion of genetic heterogeneity of multiple types of congenital heart defects, see 306955. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_102">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
<div class="divPopper rprt" id="clin_445"><div><strong>Atrial fibrillation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>445</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)&#10;Click for more information.">C0004238</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/445">Feature record</a> | <a href="/medgen?term=%22Atrial%20fibrillation%22%5BClinical%20Features%5D%20OR%20445%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_13956"><div><strong>Atrioventricular block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13956</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)&#10;Click for more information.">C0004245</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/13956">Feature record</a> | <a href="/medgen?term=%22Atrioventricular%20block%22%5BClinical%20Features%5D%20OR%2013956%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2496"><div><strong>Atrioventricular dissociation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2496</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)&#10;Click for more information.">C0004331</a></dd><dt><span class="dotprefix"></span></dt><dd>Pathologic Function</dd></dl></div></div></div>
<div class="spaceAbove">Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2496">Feature record</a> | <a href="/medgen?term=%22Atrioventricular%20dissociation%22%5BClinical%20Features%5D%20OR%202496%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6748"><div><strong>Abnormal heart morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6748</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)&#10;Click for more information.">C0018798</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Any structural anomaly of the heart.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6748">Feature record</a> | <a href="/medgen?term=%22Abnormal%20heart%20morphology%22%5BClinical%20Features%5D%20OR%206748%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_6753"><div><strong>Atrial septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6753</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)&#10;Click for more information.">C0018817</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/6753">Feature record</a> | <a href="/medgen?term=%22Atrial%20septal%20defect%22%5BClinical%20Features%5D%20OR%206753%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21453"><div><strong>Tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21453</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)&#10;Click for more information.">C0039231</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">A rapid heartrate that exceeds the range of the normal resting heartrate for age.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21453">Feature record</a> | <a href="/medgen?term=%22Tachycardia%22%5BClinical%20Features%5D%20OR%2021453%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_21498"><div><strong>Tetralogy of Fallot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21498</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0039685</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Each of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/21498">Feature record</a> | <a href="/medgen?term=%22Tetralogy%20of%20Fallot%22%5BClinical%20Features%5D%20OR%2021498%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_88445"><div><strong>Right bundle branch block</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88445</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)&#10;Click for more information.">C0085615</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/88445">Feature record</a> | <a href="/medgen?term=%22Right%20bundle%20branch%20block%22%5BClinical%20Features%5D%20OR%2088445%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_75586"><div><strong>Persistent left superior vena cava</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75586</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)&#10;Click for more information.">C0265931</a></dd><dt><span class="dotprefix"></span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/75586">Feature record</a> | <a href="/medgen?term=%22Persistent%20left%20superior%20vena%20cava%22%5BClinical%20Features%5D%20OR%2075586%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6748" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal heart morphology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial fibrillation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6753" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrial septal defect</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13956" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular block</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2496" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular dissociation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_75586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent left superior vena cava</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_88445" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Right bundle branch block</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tachycardia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetralogy of Fallot</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/30079851">Improving maternal-infant bonding after prenatal diagnosis of CHD.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barker PCA,
Tatum GH,
Campbell MJ,
Camitta MGW,
Milazzo AS,
Hornik CP,
French A,
Miller SG</span><br />
<span class="medgenPMjournal">Cardiol Young</span>
2018 Nov;28(11):1306-1315.
Epub 2018 Aug 6
doi: 10.1017/S104795111800121X.
<span class="bold">PMID: </span><a href="/pubmed/30079851" target="_blank">30079851</a><a href="/pmc/articles/PMC6197928" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29945508">Single Ventricle and Total Anomalous Pulmonary Venous Connection: Implications of Prenatal Diagnosis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hancock HS,
Romano JC,
Armstrong A,
Yu S,
Lowery R,
Gelehrter S</span><br />
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
2018 Jul;9(4):434-439.
doi: 10.1177/2150135118771344.
<span class="bold">PMID: </span><a href="/pubmed/29945508" target="_blank">29945508</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25821090">Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Colombi M,
Dordoni C,
Chiarelli N,
Ritelli M</span><br />
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
2015 Mar;169C(1):6-22.
doi: 10.1002/ajmg.c.31429.
<span class="bold">PMID: </span><a href="/pubmed/25821090" target="_blank">25821090</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(congenital%20heart%20defects%2C%20multiple%20types%2C%203)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (12)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/37811720">Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tambi R,
Zehra B,
Nandkishore S,
Sharafat S,
Kader F,
Nassir N,
Mohamed N,
Ahmed A,
Abdel Hameid R,
Alasrawi S,
Brueckner M,
Kuebler WM,
Chung WK,
Alsheikh-Ali A,
Di Donato RM,
Uddin M,
Berdiev BK</span><br />
<span class="medgenPMjournal">Physiol Genomics</span>
2023 Dec 1;55(12):634-646.
Epub 2023 Oct 9
doi: 10.1152/physiolgenomics.00070.2023.
<span class="bold">PMID: </span><a href="/pubmed/37811720" target="_blank">37811720</a><a href="/pmc/articles/PMC11550899" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31291209">Drug-Drug Interactions (DDIs) in Psychiatric Practice, Part 6: Pharmacodynamic Considerations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Preskorn SH</span><br />
<span class="medgenPMjournal">J Psychiatr Pract</span>
2019 Jul;25(4):290-297.
doi: 10.1097/PRA.0000000000000399.
<span class="bold">PMID: </span><a href="/pubmed/31291209" target="_blank">31291209</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30066535">Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baldacci S,
Gorini F,
Santoro M,
Pierini A,
Minichilli F,
Bianchi F</span><br />
<span class="medgenPMjournal">Epidemiol Prev</span>
2018 May-Aug;42(3-4 Suppl 1):1-34.
doi: 10.19191/EP18.3-4.S1.P001.057.
<span class="bold">PMID: </span><a href="/pubmed/30066535" target="_blank">30066535</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23558868">Congenital heart defects in Kabuki syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM</span><br />
<span class="medgenPMjournal">Cardiol J</span>
2013;20(2):121-4.
doi: 10.5603/CJ.2013.0023.
<span class="bold">PMID: </span><a href="/pubmed/23558868" target="_blank">23558868</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19415067">Congenital heart defects in twin gestations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Campbell KH,
Copel JA,
Ozan Bahtiyar M</span><br />
<span class="medgenPMjournal">Minerva Ginecol</span>
2009 Jun;61(3):239-44.
<span class="bold">PMID: </span><a href="/pubmed/19415067" target="_blank">19415067</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%203%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 (115)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35179301">Co-occurring anomalies in congenital oral clefts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Stoll C,
Alembik Y,
Roth MP</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2022 Jun;188(6):1700-1715.
Epub 2022 Feb 18
doi: 10.1002/ajmg.a.62689.
<span class="bold">PMID: </span><a href="/pubmed/35179301" target="_blank">35179301</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34971082">Congenital heart defects in molecularly confirmed KBG syndrome patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
Calcagni G,
Gnazzo M,
Versacci P,
Dentici ML,
Capolino R,
Sinibaldi L,
Baban A,
Putotto C,
Alfieri P,
Unolt M,
Lepri FR,
Alesi V,
Genovese S,
Novelli A,
Marino B,
Dallapiccola B</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2022 Apr;188(4):1149-1159.
Epub 2021 Dec 31
doi: 10.1002/ajmg.a.62632.
<span class="bold">PMID: </span><a href="/pubmed/34971082" target="_blank">34971082</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30066535">Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baldacci S,
Gorini F,
Santoro M,
Pierini A,
Minichilli F,
Bianchi F</span><br />
<span class="medgenPMjournal">Epidemiol Prev</span>
2018 May-Aug;42(3-4 Suppl 1):1-34.
doi: 10.19191/EP18.3-4.S1.P001.057.
<span class="bold">PMID: </span><a href="/pubmed/30066535" target="_blank">30066535</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25821090">Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Colombi M,
Dordoni C,
Chiarelli N,
Ritelli M</span><br />
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
2015 Mar;169C(1):6-22.
doi: 10.1002/ajmg.c.31429.
<span class="bold">PMID: </span><a href="/pubmed/25821090" target="_blank">25821090</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23558868">Congenital heart defects in Kabuki syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM</span><br />
<span class="medgenPMjournal">Cardiol J</span>
2013;20(2):121-4.
doi: 10.5603/CJ.2013.0023.
<span class="bold">PMID: </span><a href="/pubmed/23558868" target="_blank">23558868</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%203%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 (89)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/34935425">Procedural Risk in Congenital Cardiac Catheterization (PREDIC(3)T).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Quinn BP,
Yeh M,
Gauvreau K,
Ali F,
Balzer D,
Barry O,
Batlivala S,
Berman D,
Foerster S,
Goldstein B,
Hainstock M,
Holzer R,
Janssen D,
O'Byrne ML,
Shirley L,
Trucco S,
Whiteside W,
Bergersen L</span><br />
<span class="medgenPMjournal">J Am Heart Assoc</span>
2022 Jan 4;11(1):e022832.
Epub 2021 Dec 22
doi: 10.1161/JAHA.121.022832.
<span class="bold">PMID: </span><a href="/pubmed/34935425" target="_blank">34935425</a><a href="/pmc/articles/PMC9075192" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34857025">RASopathies and hemostatic abnormalities: key role of platelet dysfunction.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Di Candia F,
Marchetti V,
Cirillo F,
Di Minno A,
Rosano C,
Pagano S,
Siano MA,
Falco M,
Assunto A,
Boccia G,
Magliacane G,
Pinna V,
De Luca A,
Tartaglia M,
Di Minno G,
Strisciuglio P,
Melis D</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2021 Dec 2;16(1):499.
doi: 10.1186/s13023-021-02122-7.
<span class="bold">PMID: </span><a href="/pubmed/34857025" target="_blank">34857025</a><a href="/pmc/articles/PMC8638204" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31291209">Drug-Drug Interactions (DDIs) in Psychiatric Practice, Part 6: Pharmacodynamic Considerations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Preskorn SH</span><br />
<span class="medgenPMjournal">J Psychiatr Pract</span>
2019 Jul;25(4):290-297.
doi: 10.1097/PRA.0000000000000399.
<span class="bold">PMID: </span><a href="/pubmed/31291209" target="_blank">31291209</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30066535">Environmental and individual exposure and the risk of congenital anomalies: a review of recent epidemiological evidence.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Baldacci S,
Gorini F,
Santoro M,
Pierini A,
Minichilli F,
Bianchi F</span><br />
<span class="medgenPMjournal">Epidemiol Prev</span>
2018 May-Aug;42(3-4 Suppl 1):1-34.
doi: 10.19191/EP18.3-4.S1.P001.057.
<span class="bold">PMID: </span><a href="/pubmed/30066535" target="_blank">30066535</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19415067">Congenital heart defects in twin gestations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Campbell KH,
Copel JA,
Ozan Bahtiyar M</span><br />
<span class="medgenPMjournal">Minerva Ginecol</span>
2009 Jun;61(3):239-44.
<span class="bold">PMID: </span><a href="/pubmed/19415067" target="_blank">19415067</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%203%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/37811720">Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tambi R,
Zehra B,
Nandkishore S,
Sharafat S,
Kader F,
Nassir N,
Mohamed N,
Ahmed A,
Abdel Hameid R,
Alasrawi S,
Brueckner M,
Kuebler WM,
Chung WK,
Alsheikh-Ali A,
Di Donato RM,
Uddin M,
Berdiev BK</span><br />
<span class="medgenPMjournal">Physiol Genomics</span>
2023 Dec 1;55(12):634-646.
Epub 2023 Oct 9
doi: 10.1152/physiolgenomics.00070.2023.
<span class="bold">PMID: </span><a href="/pubmed/37811720" target="_blank">37811720</a><a href="/pmc/articles/PMC11550899" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31291209">Drug-Drug Interactions (DDIs) in Psychiatric Practice, Part 6: Pharmacodynamic Considerations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Preskorn SH</span><br />
<span class="medgenPMjournal">J Psychiatr Pract</span>
2019 Jul;25(4):290-297.
doi: 10.1097/PRA.0000000000000399.
<span class="bold">PMID: </span><a href="/pubmed/31291209" target="_blank">31291209</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28033081">Clinical Databases and Registries in Congenital and Pediatric Cardiac Surgery, Cardiology, Critical Care, and Anesthesiology Worldwide.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vener DF,
Gaies M,
Jacobs JP,
Pasquali SK</span><br />
<span class="medgenPMjournal">World J Pediatr Congenit Heart Surg</span>
2017 Jan;8(1):77-87.
doi: 10.1177/2150135116681730.
<span class="bold">PMID: </span><a href="/pubmed/28033081" target="_blank">28033081</a></div>
<div class="nl"><a target="_blank" href="/pubmed/23558868">Congenital heart defects in Kabuki syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yuan SM</span><br />
<span class="medgenPMjournal">Cardiol J</span>
2013;20(2):121-4.
doi: 10.5603/CJ.2013.0023.
<span class="bold">PMID: </span><a href="/pubmed/23558868" target="_blank">23558868</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19415067">Congenital heart defects in twin gestations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Campbell KH,
Copel JA,
Ozan Bahtiyar M</span><br />
<span class="medgenPMjournal">Minerva Ginecol</span>
2009 Jun;61(3):239-44.
<span class="bold">PMID: </span><a href="/pubmed/19415067" target="_blank">19415067</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%203%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (59)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/37811720">Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tambi R,
Zehra B,
Nandkishore S,
Sharafat S,
Kader F,
Nassir N,
Mohamed N,
Ahmed A,
Abdel Hameid R,
Alasrawi S,
Brueckner M,
Kuebler WM,
Chung WK,
Alsheikh-Ali A,
Di Donato RM,
Uddin M,
Berdiev BK</span><br />
<span class="medgenPMjournal">Physiol Genomics</span>
2023 Dec 1;55(12):634-646.
Epub 2023 Oct 9
doi: 10.1152/physiolgenomics.00070.2023.
<span class="bold">PMID: </span><a href="/pubmed/37811720" target="_blank">37811720</a><a href="/pmc/articles/PMC11550899" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31291209">Drug-Drug Interactions (DDIs) in Psychiatric Practice, Part 6: Pharmacodynamic Considerations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Preskorn SH</span><br />
<span class="medgenPMjournal">J Psychiatr Pract</span>
2019 Jul;25(4):290-297.
doi: 10.1097/PRA.0000000000000399.
<span class="bold">PMID: </span><a href="/pubmed/31291209" target="_blank">31291209</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29106500">Familial co-occurrence of congenital heart defects follows distinct patterns.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ellesøe SG,
Workman CT,
Bouvagnet P,
Loffredo CA,
McBride KL,
Hinton RB,
van Engelen K,
Gertsen EC,
Mulder BJM,
Postma AV,
Anderson RH,
Hjortdal VE,
Brunak S,
Larsen LA</span><br />
<span class="medgenPMjournal">Eur Heart J</span>
2018 Mar 21;39(12):1015-1022.
doi: 10.1093/eurheartj/ehx314.
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<div class="nl"><a target="_blank" href="/pubmed/28884922">Congenital heart defects in molecularly proven Kabuki syndrome patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Digilio MC,
Gnazzo M,
Lepri F,
Dentici ML,
Pisaneschi E,
Baban A,
Passarelli C,
Capolino R,
Angioni A,
Novelli A,
Marino B,
Dallapiccola B</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2017 Nov;173(11):2912-2922.
Epub 2017 Sep 8
doi: 10.1002/ajmg.a.38417.
<span class="bold">PMID: </span><a href="/pubmed/28884922" target="_blank">28884922</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19415067">Congenital heart defects in twin gestations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Campbell KH,
Copel JA,
Ozan Bahtiyar M</span><br />
<span class="medgenPMjournal">Minerva Ginecol</span>
2009 Jun;61(3):239-44.
<span class="bold">PMID: </span><a href="/pubmed/19415067" target="_blank">19415067</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%203%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 (48)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/36006061">Partial Anomalous Left Pulmonary Artery Anterior Versus Posterior Types: A Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Restrepo CS,
Gonzalez TV,
Baxi AJ,
Saboo SS</span><br />
<span class="medgenPMjournal">Tomography</span>
2022 Jul 27;8(4):1947-1958.
doi: 10.3390/tomography8040163.
<span class="bold">PMID: </span><a href="/pubmed/36006061" target="_blank">36006061</a><a href="/pmc/articles/PMC9416361" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24773223">A systematic review on the efficacy and safety of transcatheter device closure of ventricular septal defects (VSD).</a></div>
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Tai BC,
Khin LW,
Quek SC</span><br />
<span class="medgenPMjournal">J Interv Cardiol</span>
2014 Jun;27(3):260-72.
Epub 2014 Apr 29
doi: 10.1111/joic.12121.
<span class="bold">PMID: </span><a href="/pubmed/24773223" target="_blank">24773223</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Congenital%20heart%20defects%2C%20multiple%20types%2C%203%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3554194%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
<li><a href="/gtr/tests?term=C3554194%5bDISCUI%5d&amp;filter=method%3A2%5F29" target="_blank">Detection of homozygosity (1)</a></li>
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