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<meta name="keywords" content="C1853238, congenital abnormality, conotruncal defect, conotruncal defects, conotruncal heart defects, finding, 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="A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=342828
|
||
ConceptID=C1853238
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Conotruncal defect</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342828</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.">C1853238</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Conotruncal defects; Conotruncal heart defects</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:0001710">HP:0001710</a></td></tr>
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</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">A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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||
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<div class="portlet mgSection" id="ID_118">
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<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="TLline">Conotruncal defect</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><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/927608" ref="tree=MeSH" title="MedGen record for Abnormal vascular morphology">Abnormal vascular morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1778737" ref="tree=MeSH" title="MedGen record for Abnormal blood vessel morphology">Abnormal blood vessel morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1375454" ref="tree=MeSH" title="MedGen record for Abnormal morphology of the great vessels">Abnormal morphology of the great vessels</a></span><ul><li><span class="TLline"><a href="/medgen/852566" ref="tree=MeSH" title="MedGen record for Congenital malformation of the great arteries">Congenital malformation of the great arteries</a></span><ul><li><span class="matched_ds">Conotruncal defect</span><ul><li><span class="TLline"><a href="/medgen/21498" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot">Tetralogy of Fallot</a></span><ul><li><span class="TLline"><a href="/medgen/768726" ref="tree=MeSH" title="MedGen record for Complete atrioventricular canal-tetralogy of fallot syndrome">Complete atrioventricular canal-tetralogy of fallot syndrome</a></span></li><li><span class="TLline"><a href="/medgen/868826" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot with absent subarterial conus">Tetralogy of Fallot with absent subarterial conus</a></span></li><li><span class="TLline"><a href="/medgen/868825" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot with atrioventricular canal defect">Tetralogy of Fallot with atrioventricular canal defect</a></span></li><li><span class="TLline"><a href="/medgen/576595" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot with pulmonary atresia">Tetralogy of Fallot with pulmonary atresia</a></span><ul><li><span class="TLline"><a href="/medgen/868824" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries">Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/488870" ref="tree=MeSH" title="MedGen record for Tetralogy of Fallot with pulmonary stenosis">Tetralogy of Fallot with pulmonary stenosis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_96600"><div><strong>Isotretinoin-like syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96600</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.">C0432364</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. It has been described in six male patients, three of them being siblings born to nonconsanguineous parents. It has characteristics of the same anomalies as those described after maternal treatment with the drug isotretinoin: malformations of the face (small, malformed, or missing ears, micrognathia, cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies (hydrocephalus and posterior fossa abnormalities). As the syndrome has only been reported in males, X-linked recessive inheritance is possible but autosomal recessive inheritance cannot be ruled out.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96600">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208639"><div><strong>Kleefstra syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208639</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0795833</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Kleefstra syndrome is characterized by intellectual disability, autistic-like features, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate-to-severe spectrum of intellectual disability although a few individuals have mild delay and total IQ within low-normal range. While most have severe expressive speech delay with little speech development, general language development is usually at a higher level, making nonverbal communication possible. A complex pattern of other findings can also be observed; these include heart defects, renal/urologic defects, genital defects in males, severe respiratory infections, epilepsy / febrile seizures, psychiatric disorders, and extreme apathy or catatonic-like features after puberty.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208639">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isotretinoin-like syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208639" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Kleefstra syndrome 1</a></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/36976169">Prenatal diagnosis of fetal conotruncal defects by using 2D ultrasound and HD live flow combined with spatiotemporal image correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li TG,
|
||
Su XR,
|
||
Wu WR,
|
||
Zhang WD,
|
||
Ma B</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2023 Sep;51(7):1166-1171.
|
||
Epub 2023 Mar 28
|
||
doi: 10.1002/jcu.23454.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36976169" target="_blank">36976169</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33142350">Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qiao F,
|
||
Wang Y,
|
||
Zhang C,
|
||
Zhou R,
|
||
Wu Y,
|
||
Wang C,
|
||
Meng L,
|
||
Mao P,
|
||
Cheng Q,
|
||
Luo C,
|
||
Hu P,
|
||
Xu Z</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2021 Sep;58(3):377-387.
|
||
doi: 10.1002/uog.23532.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33142350" target="_blank">33142350</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25240492">Prenatal diagnosis and outcome of right aortic arch without significant intracardiac anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Razon Y,
|
||
Berant M,
|
||
Fogelman R,
|
||
Amir G,
|
||
Birk E</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Echocardiogr</span>
|
||
2014 Dec;27(12):1352-8.
|
||
Epub 2014 Sep 17
|
||
doi: 10.1016/j.echo.2014.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25240492" target="_blank">25240492</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22conotruncal%20defect%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 (4)</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/37874971">Outcomes of transcatheter pulmonary SAPIEN 3 valve implantation: an international registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hascoët S,
|
||
Bentham JR,
|
||
Giugno L,
|
||
Betrián-Blasco P,
|
||
Kempny A,
|
||
Houeijeh A,
|
||
Baho H,
|
||
Sharma SR,
|
||
Jones MI,
|
||
Biernacka EK,
|
||
Combes N,
|
||
Georgiev S,
|
||
Bouvaist H,
|
||
Martins JD,
|
||
Kantzis M,
|
||
Turner M,
|
||
Schubert S,
|
||
Jalal Z,
|
||
Butera G,
|
||
Malekzadeh-Milani S,
|
||
Valdeolmillos E,
|
||
Karsenty C,
|
||
Ödemiş E,
|
||
Aldebert P,
|
||
Haas NA,
|
||
Khatib I,
|
||
Wåhlander H,
|
||
Gaio G,
|
||
Mendoza A,
|
||
Arif S,
|
||
Castaldi B,
|
||
Dohlen G,
|
||
Carere RG,
|
||
Del Cerro-Marin MJ,
|
||
Kitzmüller E,
|
||
Hermuzi A,
|
||
Carminati M,
|
||
Guérin P,
|
||
Tengler A,
|
||
Fraisse A;
|
||
EUROPULMS3 investigators</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2024 Jan 14;45(3):198-210.
|
||
doi: 10.1093/eurheartj/ehad663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37874971" target="_blank">37874971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35014860">Association of Alcohol Use Diagnostic Codes in Pregnancy and Offspring Conotruncal and Endocardial Cushion Heart Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvey DC,
|
||
Baer RJ,
|
||
Bandoli G,
|
||
Chambers CD,
|
||
Jelliffe-Pawlowski LL,
|
||
Kumar SR</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2022 Jan 18;11(2):e022175.
|
||
Epub 2022 Jan 11
|
||
doi: 10.1161/JAHA.121.022175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35014860" target="_blank">35014860</a><a href="/pmc/articles/PMC9238516" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32410215">Prenatal exome sequencing in fetuses with congenital heart defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li R,
|
||
Fu F,
|
||
Yu Q,
|
||
Wang D,
|
||
Jing X,
|
||
Zhang Y,
|
||
Li F,
|
||
Li F,
|
||
Han J,
|
||
Pan M,
|
||
Zhen L,
|
||
Li D,
|
||
Liao C</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Sep;98(3):215-230.
|
||
Epub 2020 Jun 9
|
||
doi: 10.1111/cge.13774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32410215" target="_blank">32410215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29287135">Pulmonary hypoplasia in fetuses with congenital conotruncal defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
|
||
Zhao Y,
|
||
Han L,
|
||
Zhang Y,
|
||
Ge S,
|
||
He Y</span><br />
|
||
<span class="medgenPMjournal">Echocardiography</span>
|
||
2017 Dec;34(12):1842-1851.
|
||
doi: 10.1111/echo.13701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29287135" target="_blank">29287135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25240492">Prenatal diagnosis and outcome of right aortic arch without significant intracardiac anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Razon Y,
|
||
Berant M,
|
||
Fogelman R,
|
||
Amir G,
|
||
Birk E</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Echocardiogr</span>
|
||
2014 Dec;27(12):1352-8.
|
||
Epub 2014 Sep 17
|
||
doi: 10.1016/j.echo.2014.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25240492" target="_blank">25240492</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Conotruncal%20defect%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 (26)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37874971">Outcomes of transcatheter pulmonary SAPIEN 3 valve implantation: an international registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hascoët S,
|
||
Bentham JR,
|
||
Giugno L,
|
||
Betrián-Blasco P,
|
||
Kempny A,
|
||
Houeijeh A,
|
||
Baho H,
|
||
Sharma SR,
|
||
Jones MI,
|
||
Biernacka EK,
|
||
Combes N,
|
||
Georgiev S,
|
||
Bouvaist H,
|
||
Martins JD,
|
||
Kantzis M,
|
||
Turner M,
|
||
Schubert S,
|
||
Jalal Z,
|
||
Butera G,
|
||
Malekzadeh-Milani S,
|
||
Valdeolmillos E,
|
||
Karsenty C,
|
||
Ödemiş E,
|
||
Aldebert P,
|
||
Haas NA,
|
||
Khatib I,
|
||
Wåhlander H,
|
||
Gaio G,
|
||
Mendoza A,
|
||
Arif S,
|
||
Castaldi B,
|
||
Dohlen G,
|
||
Carere RG,
|
||
Del Cerro-Marin MJ,
|
||
Kitzmüller E,
|
||
Hermuzi A,
|
||
Carminati M,
|
||
Guérin P,
|
||
Tengler A,
|
||
Fraisse A;
|
||
EUROPULMS3 investigators</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2024 Jan 14;45(3):198-210.
|
||
doi: 10.1093/eurheartj/ehad663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37874971" target="_blank">37874971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36976169">Prenatal diagnosis of fetal conotruncal defects by using 2D ultrasound and HD live flow combined with spatiotemporal image correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li TG,
|
||
Su XR,
|
||
Wu WR,
|
||
Zhang WD,
|
||
Ma B</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2023 Sep;51(7):1166-1171.
|
||
Epub 2023 Mar 28
|
||
doi: 10.1002/jcu.23454.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36976169" target="_blank">36976169</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35014860">Association of Alcohol Use Diagnostic Codes in Pregnancy and Offspring Conotruncal and Endocardial Cushion Heart Defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Harvey DC,
|
||
Baer RJ,
|
||
Bandoli G,
|
||
Chambers CD,
|
||
Jelliffe-Pawlowski LL,
|
||
Kumar SR</span><br />
|
||
<span class="medgenPMjournal">J Am Heart Assoc</span>
|
||
2022 Jan 18;11(2):e022175.
|
||
Epub 2022 Jan 11
|
||
doi: 10.1161/JAHA.121.022175.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35014860" target="_blank">35014860</a><a href="/pmc/articles/PMC9238516" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32410215">Prenatal exome sequencing in fetuses with congenital heart defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li R,
|
||
Fu F,
|
||
Yu Q,
|
||
Wang D,
|
||
Jing X,
|
||
Zhang Y,
|
||
Li F,
|
||
Li F,
|
||
Han J,
|
||
Pan M,
|
||
Zhen L,
|
||
Li D,
|
||
Liao C</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Sep;98(3):215-230.
|
||
Epub 2020 Jun 9
|
||
doi: 10.1111/cge.13774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32410215" target="_blank">32410215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25240492">Prenatal diagnosis and outcome of right aortic arch without significant intracardiac anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Razon Y,
|
||
Berant M,
|
||
Fogelman R,
|
||
Amir G,
|
||
Birk E</span><br />
|
||
<span class="medgenPMjournal">J Am Soc Echocardiogr</span>
|
||
2014 Dec;27(12):1352-8.
|
||
Epub 2014 Sep 17
|
||
doi: 10.1016/j.echo.2014.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25240492" target="_blank">25240492</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Conotruncal%20defect%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 (17)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37874971">Outcomes of transcatheter pulmonary SAPIEN 3 valve implantation: an international registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hascoët S,
|
||
Bentham JR,
|
||
Giugno L,
|
||
Betrián-Blasco P,
|
||
Kempny A,
|
||
Houeijeh A,
|
||
Baho H,
|
||
Sharma SR,
|
||
Jones MI,
|
||
Biernacka EK,
|
||
Combes N,
|
||
Georgiev S,
|
||
Bouvaist H,
|
||
Martins JD,
|
||
Kantzis M,
|
||
Turner M,
|
||
Schubert S,
|
||
Jalal Z,
|
||
Butera G,
|
||
Malekzadeh-Milani S,
|
||
Valdeolmillos E,
|
||
Karsenty C,
|
||
Ödemiş E,
|
||
Aldebert P,
|
||
Haas NA,
|
||
Khatib I,
|
||
Wåhlander H,
|
||
Gaio G,
|
||
Mendoza A,
|
||
Arif S,
|
||
Castaldi B,
|
||
Dohlen G,
|
||
Carere RG,
|
||
Del Cerro-Marin MJ,
|
||
Kitzmüller E,
|
||
Hermuzi A,
|
||
Carminati M,
|
||
Guérin P,
|
||
Tengler A,
|
||
Fraisse A;
|
||
EUROPULMS3 investigators</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2024 Jan 14;45(3):198-210.
|
||
doi: 10.1093/eurheartj/ehad663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37874971" target="_blank">37874971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32491276">Post-Left Atrium Space Index in Fetuses With Total Anomalous Pulmonary Venous Connection and Other Congenital Heart Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han J,
|
||
Li T,
|
||
Wu W,
|
||
Zhang Y,
|
||
Liu X,
|
||
Gu X,
|
||
Sun L,
|
||
Gao S,
|
||
He Y</span><br />
|
||
<span class="medgenPMjournal">J Ultrasound Med</span>
|
||
2020 Dec;39(12):2405-2412.
|
||
Epub 2020 Jun 3
|
||
doi: 10.1002/jum.15362.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32491276" target="_blank">32491276</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16100725">Risks of human conotruncal heart defects associated with 32 single nucleotide polymorphisms of selected cardiovascular disease-related genes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaw GM,
|
||
Iovannisci DM,
|
||
Yang W,
|
||
Finnell RH,
|
||
Carmichael SL,
|
||
Cheng S,
|
||
Lammer EJ</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2005 Sep 15;138(1):21-6.
|
||
doi: 10.1002/ajmg.a.30924.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16100725" target="_blank">16100725</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12631536">Maternal occupational chemical exposures and biotransformation genotypes as risk factors for selected congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaw GM,
|
||
Nelson V,
|
||
Iovannisci DM,
|
||
Finnell RH,
|
||
Lammer EJ</span><br />
|
||
<span class="medgenPMjournal">Am J Epidemiol</span>
|
||
2003 Mar 15;157(6):475-84.
|
||
doi: 10.1093/aje/kwg013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12631536" target="_blank">12631536</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9888281">Maternal pesticide exposure from multiple sources and selected congenital anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shaw GM,
|
||
Wasserman CR,
|
||
O'Malley CD,
|
||
Nelson V,
|
||
Jackson RJ</span><br />
|
||
<span class="medgenPMjournal">Epidemiology</span>
|
||
1999 Jan;10(1):60-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9888281" target="_blank">9888281</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Conotruncal%20defect%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36976169">Prenatal diagnosis of fetal conotruncal defects by using 2D ultrasound and HD live flow combined with spatiotemporal image correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li TG,
|
||
Su XR,
|
||
Wu WR,
|
||
Zhang WD,
|
||
Ma B</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
2023 Sep;51(7):1166-1171.
|
||
Epub 2023 Mar 28
|
||
doi: 10.1002/jcu.23454.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36976169" target="_blank">36976169</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34129069">Feasibility and accuracy of printed models of complex cardiac defects in small infants from cardiac computed tomography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hadeed K,
|
||
Guitarte A,
|
||
Briot J,
|
||
Dulac Y,
|
||
Alacoque X,
|
||
Acar P,
|
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Karsenty C</span><br />
|
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<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2021 Oct;51(11):1983-1990.
|
||
Epub 2021 Jun 15
|
||
doi: 10.1007/s00247-021-05110-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34129069" target="_blank">34129069</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30900319">Surgical outcome in aortopulmonary window beyond the neonatal period.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar V,
|
||
Singh RS,
|
||
Thingnam SKS,
|
||
Mishra AK,
|
||
Jaswal V</span><br />
|
||
<span class="medgenPMjournal">J Card Surg</span>
|
||
2019 May;34(5):300-304.
|
||
Epub 2019 Mar 21
|
||
doi: 10.1111/jocs.14023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30900319" target="_blank">30900319</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25240492">Prenatal diagnosis and outcome of right aortic arch without significant intracardiac anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Razon Y,
|
||
Berant M,
|
||
Fogelman R,
|
||
Amir G,
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Birk E</span><br />
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<span class="medgenPMjournal">J Am Soc Echocardiogr</span>
|
||
2014 Dec;27(12):1352-8.
|
||
Epub 2014 Sep 17
|
||
doi: 10.1016/j.echo.2014.08.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25240492" target="_blank">25240492</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11107205">Evaluation of ventricular septal defect repair using intraoperative transesophageal echocardiography: frequency and significance of residual defects in infants and children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang SG,
|
||
Novello R,
|
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Nicolson S,
|
||
Steven J,
|
||
Gaynor JW,
|
||
Spray TL,
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Rychik J</span><br />
|
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<span class="medgenPMjournal">Echocardiography</span>
|
||
2000 Oct;17(7):681-4.
|
||
doi: 10.1046/j.1540-8175.2000.00681.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11107205" target="_blank">11107205</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Conotruncal%20defect%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 (10)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37874971">Outcomes of transcatheter pulmonary SAPIEN 3 valve implantation: an international registry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hascoët S,
|
||
Bentham JR,
|
||
Giugno L,
|
||
Betrián-Blasco P,
|
||
Kempny A,
|
||
Houeijeh A,
|
||
Baho H,
|
||
Sharma SR,
|
||
Jones MI,
|
||
Biernacka EK,
|
||
Combes N,
|
||
Georgiev S,
|
||
Bouvaist H,
|
||
Martins JD,
|
||
Kantzis M,
|
||
Turner M,
|
||
Schubert S,
|
||
Jalal Z,
|
||
Butera G,
|
||
Malekzadeh-Milani S,
|
||
Valdeolmillos E,
|
||
Karsenty C,
|
||
Ödemiş E,
|
||
Aldebert P,
|
||
Haas NA,
|
||
Khatib I,
|
||
Wåhlander H,
|
||
Gaio G,
|
||
Mendoza A,
|
||
Arif S,
|
||
Castaldi B,
|
||
Dohlen G,
|
||
Carere RG,
|
||
Del Cerro-Marin MJ,
|
||
Kitzmüller E,
|
||
Hermuzi A,
|
||
Carminati M,
|
||
Guérin P,
|
||
Tengler A,
|
||
Fraisse A;
|
||
EUROPULMS3 investigators</span><br />
|
||
<span class="medgenPMjournal">Eur Heart J</span>
|
||
2024 Jan 14;45(3):198-210.
|
||
doi: 10.1093/eurheartj/ehad663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37874971" target="_blank">37874971</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37107705">Contribution of LRP1 in Human Congenital Heart Disease Correlates with Its Roles in the Outflow Tract and Atrioventricular Cushion Development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arrigo AB,
|
||
Zhu W,
|
||
Williams KA,
|
||
Guzman-Moreno C,
|
||
Lo C,
|
||
Lin JI</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Apr 21;14(4)
|
||
doi: 10.3390/genes14040947.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37107705" target="_blank">37107705</a><a href="/pmc/articles/PMC10137934" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32410215">Prenatal exome sequencing in fetuses with congenital heart defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li R,
|
||
Fu F,
|
||
Yu Q,
|
||
Wang D,
|
||
Jing X,
|
||
Zhang Y,
|
||
Li F,
|
||
Li F,
|
||
Han J,
|
||
Pan M,
|
||
Zhen L,
|
||
Li D,
|
||
Liao C</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2020 Sep;98(3):215-230.
|
||
Epub 2020 Jun 9
|
||
doi: 10.1111/cge.13774.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32410215" target="_blank">32410215</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29287135">Pulmonary hypoplasia in fetuses with congenital conotruncal defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
|
||
Zhao Y,
|
||
Han L,
|
||
Zhang Y,
|
||
Ge S,
|
||
He Y</span><br />
|
||
<span class="medgenPMjournal">Echocardiography</span>
|
||
2017 Dec;34(12):1842-1851.
|
||
doi: 10.1111/echo.13701.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29287135" target="_blank">29287135</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25952753">A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang X,
|
||
Xu Y,
|
||
Liu D,
|
||
Geng J,
|
||
Chen S,
|
||
Jiang Z,
|
||
Fu Q,
|
||
Sun K</span><br />
|
||
<span class="medgenPMjournal">BMC Genomics</span>
|
||
2015 May 8;16(1):364.
|
||
doi: 10.1186/s12864-015-1590-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25952753" target="_blank">25952753</a><a href="/pmc/articles/PMC4424574" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Conotruncal%20defect%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 (12)</a></div></div>
|
||
</div>
|
||
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d487f667c23b31e06bc5d6">Conotruncal defect</a>
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