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<meta name="keywords" content="C3280777, congenital abnormality, disease or syndrome, gata4, gata4 ventricular septal defect (disease), ventricular septal defect (disease) caused by mutation in gata4, ventricular septal defect 1, ventricular septal defect type 1, vsd1, 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="Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by Wang et al., 2011, 2011). Other congenital cardiac defects caused by mutation in the GATA4 gene include atrial septal defect (ASD2; 607941), tetralogy of Fallot (see TOF, 187500), and endocardial cushion defects (AVSD4; 614430). Genetic Heterogeneity of Ventricular Septal Defect VSD2 (614431) is caused by mutation in the CITED2 gene (602937) on chromosome 6q24; VSD3 (614432) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q34. Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with VSD." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=482407
|
||
ConceptID=C3280777
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ventricular septal defect 1<span class="h1sub">(VSD1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482407</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:">C3280777</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality; Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>VSD1</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GATA4 - ID: 2626 - NCBI Gene" href="/gene/2626" class="medgenPMinfo">GATA4</a> (8p23.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013746" target="_blank">MONDO:0013746</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614429" target="_blank">614429</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">Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by Wang et al., 2011, 2011). Other congenital cardiac defects caused by mutation in the GATA4 gene include atrial septal defect (ASD2; 607941), tetralogy of Fallot (see TOF, 187500), and endocardial cushion defects (AVSD4; 614430). Genetic Heterogeneity of Ventricular Septal Defect VSD2 (614431) is caused by mutation in the CITED2 gene (602937) on chromosome 6q24; VSD3 (614432) is caused by mutation in the NKX2-5 gene (600584) on chromosome 5q34. Somatic mutations in the HAND1 gene (602406) have been identified in tissue samples from patients with VSD. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_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) 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_42366"><div><strong>Ventricular septal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42366</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0018818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42366">Feature record</a> | <a href="/medgen?term=%22Ventricular%20septal%20defect%22%5BClinical%20Features%5D%20OR%2042366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21498"><div><strong>Tetralogy of Fallot</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21498</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0039685</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\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\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_235591"><div><strong>Atrioventricular canal defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235591</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1389016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A defect of the atrioventricular septum of the heart.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235591">Feature record</a> | <a href="/medgen?term=%22Atrioventricular%20canal%20defect%22%5BClinical%20Features%5D%20OR%20235591%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_408291"><div><strong>Pulmonic stenosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408291</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1956257</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/408291">Feature record</a> | <a href="/medgen?term=%22Pulmonic%20stenosis%22%5BClinical%20Features%5D%20OR%20408291%5Buid%5D">Search on this feature</a></div></div><div class="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_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_235591" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrioventricular canal defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_408291" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonic stenosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21498" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tetralogy of Fallot</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ventricular septal defect</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_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/29568912">Clinical study of prenatal ultrasonography combined with T‑box transcription factor 1 as a biomarker for the diagnosis of congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo B,
|
||
Xiao J,
|
||
Li L,
|
||
Wang S,
|
||
Wang L,
|
||
Liu S</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2018 May;17(5):7346-7350.
|
||
Epub 2018 Mar 14
|
||
doi: 10.3892/mmr.2018.8742.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29568912" target="_blank">29568912</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10440786">Prenatal sonographic diagnosis of VATER association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tongsong T,
|
||
Wanapirak C,
|
||
Piyamongkol W,
|
||
Sudasana J</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
1999 Sep;27(7):378-84.
|
||
doi: 10.1002/(sici)1097-0096(199909)27:7<378::aid-jcu4>3.0.co;2-j.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10440786" target="_blank">10440786</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8618189">Recognition and management of nonpenetrating cardiac trauma in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bromberg BI,
|
||
Mazziotti MV,
|
||
Canter CE,
|
||
Spray TL,
|
||
Strauss AW,
|
||
Foglia RP</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1996 Apr;128(4):536-41.
|
||
doi: 10.1016/s0022-3476(96)70366-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8618189" target="_blank">8618189</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ventricular%20septal%20defect%201%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/33568363">Association of first trimester prescription opioid use with congenital malformations in the offspring: population based cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bateman BT,
|
||
Hernandez-Diaz S,
|
||
Straub L,
|
||
Zhu Y,
|
||
Gray KJ,
|
||
Desai RJ,
|
||
Mogun H,
|
||
Gautam N,
|
||
Huybrechts KF</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2021 Feb 10;372:n102.
|
||
doi: 10.1136/bmj.n102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33568363" target="_blank">33568363</a><a href="/pmc/articles/PMC7873721" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26717333">Neurofibromatosis type 1 and cardiac manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">İncecik F,
|
||
Hergüner ÖM,
|
||
Alınç Erdem S,
|
||
Altunbaşak Ş</span><br />
|
||
<span class="medgenPMjournal">Turk Kardiyol Dern Ars</span>
|
||
2015 Dec;43(8):714-6.
|
||
doi: 10.5543/tkda.2015.27557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26717333" target="_blank">26717333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22675158">Coarctation of the aorta and coronary artery disease: fact or fiction?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roifman I,
|
||
Therrien J,
|
||
Ionescu-Ittu R,
|
||
Pilote L,
|
||
Guo L,
|
||
Kotowycz MA,
|
||
Martucci G,
|
||
Marelli AJ</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2012 Jul 3;126(1):16-21.
|
||
Epub 2012 Jun 6
|
||
doi: 10.1161/CIRCULATIONAHA.111.088294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22675158" target="_blank">22675158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7408369">Congenital asymmetrical crying facies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Singhi S,
|
||
Singhi P,
|
||
Lall KB</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
1980 Oct;19(10):673-5, 678.
|
||
doi: 10.1177/000992288001901005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7408369" target="_blank">7408369</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/872351">Bacterial endocarditis in patients with pulmonary stenosis, aortic stenosis, or ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gersony WM,
|
||
Hayes CJ</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
1977 Aug;56(1 Suppl):I84-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/872351" target="_blank">872351</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ventricular%20septal%20defect%201%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 (23)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27440228">The value of cardiovascular magnetic resonance in the diagnosis of fetal aortic arch anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
|
||
Li X,
|
||
Hu K,
|
||
Yin C</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2017 Jun;30(11):1366-1371.
|
||
Epub 2016 Aug 10
|
||
doi: 10.1080/14767058.2016.1214126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27440228" target="_blank">27440228</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26717333">Neurofibromatosis type 1 and cardiac manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">İncecik F,
|
||
Hergüner ÖM,
|
||
Alınç Erdem S,
|
||
Altunbaşak Ş</span><br />
|
||
<span class="medgenPMjournal">Turk Kardiyol Dern Ars</span>
|
||
2015 Dec;43(8):714-6.
|
||
doi: 10.5543/tkda.2015.27557.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26717333" target="_blank">26717333</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22675158">Coarctation of the aorta and coronary artery disease: fact or fiction?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roifman I,
|
||
Therrien J,
|
||
Ionescu-Ittu R,
|
||
Pilote L,
|
||
Guo L,
|
||
Kotowycz MA,
|
||
Martucci G,
|
||
Marelli AJ</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2012 Jul 3;126(1):16-21.
|
||
Epub 2012 Jun 6
|
||
doi: 10.1161/CIRCULATIONAHA.111.088294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22675158" target="_blank">22675158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22050985">Pulmonary artery sling: current results with cardiopulmonary bypass.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Backer CL,
|
||
Russell HM,
|
||
Kaushal S,
|
||
Rastatter JC,
|
||
Rigsby CK,
|
||
Holinger LD</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2012 Jan;143(1):144-51.
|
||
Epub 2011 Nov 3
|
||
doi: 10.1016/j.jtcvs.2011.09.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22050985" target="_blank">22050985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/872351">Bacterial endocarditis in patients with pulmonary stenosis, aortic stenosis, or ventricular septal defect.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gersony WM,
|
||
Hayes CJ</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
1977 Aug;56(1 Suppl):I84-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/872351" target="_blank">872351</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ventricular%20septal%20defect%201%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 (25)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33568363">Association of first trimester prescription opioid use with congenital malformations in the offspring: population based cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bateman BT,
|
||
Hernandez-Diaz S,
|
||
Straub L,
|
||
Zhu Y,
|
||
Gray KJ,
|
||
Desai RJ,
|
||
Mogun H,
|
||
Gautam N,
|
||
Huybrechts KF</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2021 Feb 10;372:n102.
|
||
doi: 10.1136/bmj.n102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33568363" target="_blank">33568363</a><a href="/pmc/articles/PMC7873721" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28373593">Maternal Antihypertensive Medication Use and Congenital Heart Defects: Updated Results From the National Birth Defects Prevention Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fisher SC,
|
||
Van Zutphen AR,
|
||
Werler MM,
|
||
Lin AE,
|
||
Romitti PA,
|
||
Druschel CM,
|
||
Browne ML;
|
||
National Birth Defects Prevention Study</span><br />
|
||
<span class="medgenPMjournal">Hypertension</span>
|
||
2017 May;69(5):798-805.
|
||
Epub 2017 Apr 3
|
||
doi: 10.1161/HYPERTENSIONAHA.116.08773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28373593" target="_blank">28373593</a><a href="/pmc/articles/PMC9976617" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23788297">Catheter ablation of drug resistant supraventricular tachycardia in neonates and infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akdeniz C,
|
||
Ergul Y,
|
||
Kiplapinar N,
|
||
Tuzcu V</span><br />
|
||
<span class="medgenPMjournal">Cardiol J</span>
|
||
2013;20(3):241-6.
|
||
doi: 10.5603/CJ.2013.0068.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23788297" target="_blank">23788297</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17713432">Living donor liver transplantation in children with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Concejero A,
|
||
Chen CL,
|
||
Liang CD,
|
||
Wang CC,
|
||
Wang SH,
|
||
Lin CC,
|
||
Liu YW,
|
||
Yong CC,
|
||
Yang CH,
|
||
Lin TS,
|
||
Jawan B,
|
||
Huang TL,
|
||
Cheng YF,
|
||
Eng HL</span><br />
|
||
<span class="medgenPMjournal">Transplantation</span>
|
||
2007 Aug 27;84(4):484-9.
|
||
doi: 10.1097/01.tp.0000277599.25079.94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17713432" target="_blank">17713432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14688686">Remote control of pulmonary blood flow: initial clinical experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Corno AF,
|
||
Bonnet D,
|
||
Sekarski N,
|
||
Sidi D,
|
||
Vouhé P,
|
||
von Segesser LK</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2003 Dec;126(6):1775-80.
|
||
doi: 10.1016/j.jtcvs.2003.06.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14688686" target="_blank">14688686</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ventricular%20septal%20defect%201%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27440228">The value of cardiovascular magnetic resonance in the diagnosis of fetal aortic arch anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
|
||
Li X,
|
||
Hu K,
|
||
Yin C</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2017 Jun;30(11):1366-1371.
|
||
Epub 2016 Aug 10
|
||
doi: 10.1080/14767058.2016.1214126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27440228" target="_blank">27440228</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22675158">Coarctation of the aorta and coronary artery disease: fact or fiction?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roifman I,
|
||
Therrien J,
|
||
Ionescu-Ittu R,
|
||
Pilote L,
|
||
Guo L,
|
||
Kotowycz MA,
|
||
Martucci G,
|
||
Marelli AJ</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2012 Jul 3;126(1):16-21.
|
||
Epub 2012 Jun 6
|
||
doi: 10.1161/CIRCULATIONAHA.111.088294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22675158" target="_blank">22675158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17713432">Living donor liver transplantation in children with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Concejero A,
|
||
Chen CL,
|
||
Liang CD,
|
||
Wang CC,
|
||
Wang SH,
|
||
Lin CC,
|
||
Liu YW,
|
||
Yong CC,
|
||
Yang CH,
|
||
Lin TS,
|
||
Jawan B,
|
||
Huang TL,
|
||
Cheng YF,
|
||
Eng HL</span><br />
|
||
<span class="medgenPMjournal">Transplantation</span>
|
||
2007 Aug 27;84(4):484-9.
|
||
doi: 10.1097/01.tp.0000277599.25079.94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17713432" target="_blank">17713432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11198316">Right ventricular and septal anomalies complicated by subacute bacterial endocarditis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">He QC,
|
||
Wang YQ,
|
||
Zhong BT,
|
||
Chen ZL,
|
||
Guo JG,
|
||
Ye WW</span><br />
|
||
<span class="medgenPMjournal">Tex Heart Inst J</span>
|
||
2000;27(4):401-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11198316" target="_blank">11198316</a><a href="/pmc/articles/PMC101112" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10440786">Prenatal sonographic diagnosis of VATER association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tongsong T,
|
||
Wanapirak C,
|
||
Piyamongkol W,
|
||
Sudasana J</span><br />
|
||
<span class="medgenPMjournal">J Clin Ultrasound</span>
|
||
1999 Sep;27(7):378-84.
|
||
doi: 10.1002/(sici)1097-0096(199909)27:7<378::aid-jcu4>3.0.co;2-j.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10440786" target="_blank">10440786</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ventricular%20septal%20defect%201%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33568363">Association of first trimester prescription opioid use with congenital malformations in the offspring: population based cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bateman BT,
|
||
Hernandez-Diaz S,
|
||
Straub L,
|
||
Zhu Y,
|
||
Gray KJ,
|
||
Desai RJ,
|
||
Mogun H,
|
||
Gautam N,
|
||
Huybrechts KF</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2021 Feb 10;372:n102.
|
||
doi: 10.1136/bmj.n102.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33568363" target="_blank">33568363</a><a href="/pmc/articles/PMC7873721" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28373593">Maternal Antihypertensive Medication Use and Congenital Heart Defects: Updated Results From the National Birth Defects Prevention Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fisher SC,
|
||
Van Zutphen AR,
|
||
Werler MM,
|
||
Lin AE,
|
||
Romitti PA,
|
||
Druschel CM,
|
||
Browne ML;
|
||
National Birth Defects Prevention Study</span><br />
|
||
<span class="medgenPMjournal">Hypertension</span>
|
||
2017 May;69(5):798-805.
|
||
Epub 2017 Apr 3
|
||
doi: 10.1161/HYPERTENSIONAHA.116.08773.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28373593" target="_blank">28373593</a><a href="/pmc/articles/PMC9976617" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27440228">The value of cardiovascular magnetic resonance in the diagnosis of fetal aortic arch anomalies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li X,
|
||
Li X,
|
||
Hu K,
|
||
Yin C</span><br />
|
||
<span class="medgenPMjournal">J Matern Fetal Neonatal Med</span>
|
||
2017 Jun;30(11):1366-1371.
|
||
Epub 2016 Aug 10
|
||
doi: 10.1080/14767058.2016.1214126.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27440228" target="_blank">27440228</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22675158">Coarctation of the aorta and coronary artery disease: fact or fiction?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roifman I,
|
||
Therrien J,
|
||
Ionescu-Ittu R,
|
||
Pilote L,
|
||
Guo L,
|
||
Kotowycz MA,
|
||
Martucci G,
|
||
Marelli AJ</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2012 Jul 3;126(1):16-21.
|
||
Epub 2012 Jun 6
|
||
doi: 10.1161/CIRCULATIONAHA.111.088294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22675158" target="_blank">22675158</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17713432">Living donor liver transplantation in children with congenital heart disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Concejero A,
|
||
Chen CL,
|
||
Liang CD,
|
||
Wang CC,
|
||
Wang SH,
|
||
Lin CC,
|
||
Liu YW,
|
||
Yong CC,
|
||
Yang CH,
|
||
Lin TS,
|
||
Jawan B,
|
||
Huang TL,
|
||
Cheng YF,
|
||
Eng HL</span><br />
|
||
<span class="medgenPMjournal">Transplantation</span>
|
||
2007 Aug 27;84(4):484-9.
|
||
doi: 10.1097/01.tp.0000277599.25079.94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17713432" target="_blank">17713432</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ventricular%20septal%20defect%201%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 (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3280777%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280777%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280777%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C3280777%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3280777%5bDISCUI%5d" target="_blank">See all (33)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=614429" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Ventricular%20septal%20defect%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ventricular%20septal%20defect%201%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></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=600576" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2626[geneid]" target="_blank">View GATA4 variations in ClinVar</a></li><li><a href="/nuccore/193794851" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=614429" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/VENTRICULAR+SEPTAL+DEFECT+1/9445" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/ventricular_septal_defect_1" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Ventricular%20septal%20defect%201" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Ventricular%20septal%20defect%201" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Ventricular%20septal%20defect%201%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=482407" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=482407" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3280777[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3280777[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=482407" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=482407" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=482407" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=482407" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=482407" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
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