MCID: VNT002
MIFTS: 54

Ventricular Septal Defect malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories
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Summaries for Ventricular Septal Defect

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65Wikipedia, 33MalaCards
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Wikipedia:65 A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and... more...

MalaCards: Ventricular Septal Defect, also known as ventricular septal defects, is related to double outlet right ventricle and tetralogy of fallot. An important gene associated with Ventricular Septal Defect is CITED2 (Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2), and among its related pathways are Cardiac Progenitor Differentiation and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include heart, lung and brain, and related mouse phenotypes are normal and skeleton.

Aliases & Classifications for Ventricular Septal Defect

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 58SNOMED-CT, 27ICD9CM, 40NCIt, 35MeSH, 62UMLS
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Classifications:



Aliases & Descriptions:

ventricular septal defect 8 10
ventricular septal defects 43 45
ventricular septal defect, unspecified 8
heart septal defects, ventricular 43
interventricular septal defect 8
ventricular septal abnormality 8
ventricular septal defect nos 8
septal def.-ventricular 8


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Disease Ontology8 DOID:1657
ICD9CM27 745.4
NCIt40 C84506
MeSH35 D006345

Related Diseases for Ventricular Septal Defect

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17GeneCards, 18GeneDecks
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Diseases in the Ventricular Septal Defect 1 family:

ventricular septal defect Ventricular Septal Defect 3
Ventricular Septal Defect 2 Multiple Ventricular Septal Defects

Diseases related to Ventricular Septal Defect via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 283)
idRelated DiseaseScoreTop Affiliating Genes
1double outlet right ventricle31.5GDF1, CFC1
2tetralogy of fallot31.3NKX2-5, GATA4, GDF1
3atrioventricular block30.8NKX2-5, GATA4
4atrioventricular septal defect30.7NKX2-5, GATA4
5tetrology of fallot30.6NKX2-5
6congenital heart disease30.5NKX2-5, GATA4
7pulmonary atresia with ventricular septal defect11.1
8transposition of the great arteries11.0
9multiple ventricular septal defects10.9
10left ventricular outflow tract obstruction10.8
11myocardial infarction10.8
12hypertension10.8
13aneurysm10.8
14patent ductus arteriosus10.8
15endocarditis10.8
16aortic valve prolapse10.7
17pulmonic stenosis10.7
18tricuspid atresia10.7
19aortic coarctation10.7
20eisenmenger syndrome10.7
21dextrocardia10.7
22infective endocarditis10.6
23congenitally corrected transposition of the great arteries10.6
24right bundle branch block10.5
25acute myocardial infarction10.5
26ventricular septal defect 110.5
27double outlet right ventricle with subaortic ventricular septal defect10.5
28pulmonary valve stenosis10.5
29aortopulmonary window10.5
30cor triatriatum10.5
31double outlet left ventricle10.5
32situs inversus10.4
33subvalvular aortic stenosis10.4
34subpulmonary stenosis10.4
35ventricular septal defect 310.4
36ventricular septal defect 210.4
37omphalocele10.4
38laubry-pezzi syndrome10.4
39single ventricular septal defect10.4
40hypertrophic cardiomyopathy10.4
41subacute bacterial endocarditis10.4
42constrictive pericarditis10.4
43cerebritis10.4
44pericardial effusion10.4
45pericarditis10.4
46holt-oram syndrome10.4
47aortic arch interruption10.4
48coronary arterial fistulas10.4
49criss-cross heart10.4
50pulmonary artery hypoplasia10.4

Graphical network of the top 20 diseases related to Ventricular Septal Defect:



Diseases related to ventricular septal defect

Symptoms for Ventricular Septal Defect

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Drugs & Therapeutics for Ventricular Septal Defect

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Ventricular Septal Defect

Genetic Tests for Ventricular Septal Defect

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Anatomical Context for Ventricular Septal Defect

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33MalaCards
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MalaCards organs/tissues related to Ventricular Septal Defect:

33
Heart, Lung, Brain, Colon, Liver, Pineal

Animal Models for Ventricular Septal Defect or affiliated genes

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37MGI
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Publications for Ventricular Septal Defect

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52PubMed
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Articles related to Ventricular Septal Defect:

(show top 50)    (show all 857)
idTitleAuthorsYear
1
Use of femoral vein homograft for unifocalizing major aortopulmonary collateral arteries in a patient with pulmonaryA atresia with ventricular septal defect. (24075568)
2014
2
Unusual association of aortic valve stenosis with ventricular septal defect and pulmonary atresia: Differentiation from truncus arteriosus with truncal valve stenosis. (23626446)
2013
3
Outcome and requirement for surgical repair following prenatal diagnosis of ventricular septal defect. (24357326)
2013
4
Percutaneous treatment of a post-TAVI ventricular septal defect: a successful combined procedure for an unusual complication. (22581693)
2013
5
Hybrid procedure for pulmonary atresia with ventricular septal defect in a low birth weight neonate. (23423321)
2013
6
Transcatheter closure of a traumatic ventricular septal defect using an Amplatzera8c atrial septal occluder device. (23483660)
2013
7
Percutaneous transluminal pulmonary valvuloplasty in a child with tricuspid atresia, ventricular septal defect, and severe pulmonary valve stenosis: Usefulness of the Femoral Artery Approach. (24030841)
2013
8
Double-Patch Repair by a Bilateral Ventriculotomy for Postinfarction Ventricular Septal Defect. (24298992)
2013
9
Constrictive pericarditis developed after childhood repair of ventricular septal defect. (23910801)
2013
10
Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot. (23020118)
2012
11
Genetic analysis of the TBX20 gene promoter region in patients with ventricular septal defects. (22465533)
2012
12
Two novel HAND1 mutations in Chinese patients with ventricular septal defect. (22032825)
2012
13
Pulmonary atresia with ventricular septal defect and multifocal pulmonary blood supply: does an intensive interventional approach improve the outcome? (22171603)
2012
14
Early migration of an Amplatzer muscular ventricular septal defect occluder device causing severe tricuspid valve obstruction. (22089813)
2012
15
A novel NKX2-5 mutation in familial ventricular septal defect. (21165553)
2011
16
Double orifice mitral valve associated with Ventricular Septal Defect in an infant: Case Report. (22368568)
2011
17
Post infarct ventricular septal defect tunnelling through the septum. (21809480)
2011
18
Ventricular septal defect with aortic valve insufficiency in a New Zealand White rabbit. (21730092)
2011
19
Hepatic and renal failure after anterior myocardial infarction induced apical ventricular septal defect. (21274286)
2010
20
A large left ventricular diverticulum in a patient with a previous ventricular septal defect. (20870651)
2010
21
Right ventricular remodeling in restrictive ventricular septal defect. (20637777)
2010
22
Double-root translocation for double-outlet right ventricle with noncommitted ventricular septal defect or double-outlet right ventricle with subpulmonary ventricular septal defect associated with pulmonary stenosis: an optimized solution. (20417745)
2010
23
Subcutaneous fat necrosis of the newborn associated with ventricular septal defect and patent ductus arteriosus. (19702998)
2009
24
Unifocalization of major aortopulmonary collateral arteries in pulmonary atresia with ventricular septal defect is essential to achieve excellent outcomes irrespective of native pulmonary artery morphology. (19846121)
2009
25
Gerbode ventricular septal defect diagnosed at cardiac MR imaging: case report. (19561249)
2009
26
Pre-operative evaluation with magnetic resonance imaging in tetralogy of fallot and pulmonary atresia with ventricular septal defect. (18575288)
2008
27
Gasless laparoscopic surgery for ovarian cyst in a second trimester pregnant patient with a ventricular septal defect. (18097327)
2007
28
Right aortic coarctation and ventricular septal defect: an unusual cause of tracheal compression in infancy. (18377543)
2006
29
Identification of differentially expressed genes in human heart with ventricular septal defect using suppression subtractive hybridization. (16472770)
2006
30
Construction of a pulmonary artery pump for unifocalization and repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. (15918448)
2005
31
Arterial switch operation for transposition of the great arteries combined with closure of paramembranous ventricular septal defect using the Amplatzer membranous ventricular septal occluder. (16098318)
2005
32
Repair of transposition of the great arteries, ventricular septal defect and left ventricular outflow tract obstruction. (15082275)
2004
33
Clinical implication of plasma natriuretic peptides in children with ventricular septal defect. (12828576)
2003
34
Apico-pulmonary artery conduit repair of congenitally corrected transposition of the great arteries with ventricular septal defect and pulmonary outflow tract obstruction: a 10-year follow-up. (14602256)
2003
35
The morphologic nature of noncommitted ventricular septal defects in specimens with double-outlet right ventricle. (12407383)
2002
36
A case with dextrocardia, ventricular septal defect, persistent left superior vena cava and drainage of the great cardiac vein into the left internal thoracic vein. (11490934)
2001
37
Pulmonary atresia with ventricular septal defect and persistent airway hyperresponsiveness. (11436051)
2001
38
Classification of pulmonary atresia with ventricular septal defect. (11465219)
2001
39
Ruptured aneurysm of sinus of valsalva with ventricular septal defect: the role of transesophageal echocardiography in diagnosis. (10912442)
2000
40
Branch pulmonary artery growth after blalock-taussig shunts in tetralogy of fallot and pulmonary atresia with ventricular septal defect: a retrospective, echocardiographic study. (10441692)
1999
41
Intraventricular repair of double-outlet right ventricle with noncommitted ventricular septal defect: advantages of multiple patches. (10595979)
1999
42
Aortic coarctation, multiple ventricular septal defects, and anomalous coronary artery arising from the right pulmonary artery. (9451072)
1998
43
Pulmonary atresia with ventricular septal defect: a case for central venous pressure and oxygen saturation monitoring. (9713951)
1998
44
Images in cardiovascular medicine. Huge dilatation of pulmonary arteries due To ventricular septal defect with the Eisenmenger syndrome. (8941151)
1996
45
Surgical treatment of tetralogy of Fallot and pulmonary atresia with ventricular septal defect. (8279911)
1994
46
Left ventricular outflow tract obstruction with aortic arch anomalies and ventricular septal defect. (2241361)
1990
47
Cor triatriatum, coarctation of the aorta, and ventricular septal defect: a rare, surgically correctable anomaly. (2310258)
1990
48
Double outlet right ventricle with l-malposition and uncommitted ventricular septal defect. (1183465)
1975
49
Multiple ventricular septal defects. (5009303)
1972
50
CONGENITAL HEART BLOCK WITH ATRIAL AND VENTRICULAR SEPTAL DEFECT. (18609914)
1943

Variations for Ventricular Septal Defect

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Expression for genes affiliated with Ventricular Septal Defect

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ventricular Septal Defect

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Pathways for genes affiliated with Ventricular Septal Defect

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50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 55Reactome
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Compounds for genes affiliated with Ventricular Septal Defect

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GO Terms for genes affiliated with Ventricular Septal Defect

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16Gene Ontology
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Biological processes related to Ventricular Septal Defect according to GeneCards/GeneDecks:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1embryonic heart tube left/right pattern formationGO:06097110.1NKX2-5, CITED2
2endocardial cushion developmentGO:00319710.0CITED2, GATA4
3ventricular septum morphogenesisGO:06041210.0NKX2-5, CITED2
4positive regulation of cardioblast differentiationGO:05189110.0NKX2-5, GATA4
5spleen developmentGO:04853610.0NKX2-5, CITED2
6atrial septum morphogenesisGO:0604139.9GATA4, NKX2-5
7trophectodermal cell differentiationGO:0018299.9CITED2, HAND1
8response to mechanical stimulusGO:0096129.8GATA4, CITED2
9embryonic heart tube developmentGO:0350509.8HAND1, NKX2-5
10vasculogenesisGO:0015709.8NKX2-5, CITED2
11response to estrogenGO:0436279.8GATA4, CITED2
12determination of left/right symmetryGO:0073689.7CITED2, CFC1
13BMP signaling pathwayGO:0305099.7GATA4, NKX2-5
14nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetryGO:19001649.6FOXH1, CITED2
15canonical Wnt signaling pathwayGO:0600709.6NKX2-5, GATA4
16ventricular trabecula myocardium morphogenesisGO:0032229.6FOXH1, NKX2-5
17heart developmentGO:0075079.6CITED2, HAND1
18embryonic heart tube anterior/posterior pattern specificationGO:0350549.6GATA4, FOXH1
19male gonad developmentGO:0085849.5GATA4, CITED2
20outflow tract morphogenesisGO:0031519.5CITED2, FOXH1
21cardiac right ventricle morphogenesisGO:0032159.5GATA4, FOXH1
22negative regulation of transcription, DNA-templatedGO:0458929.3HAND1, CITED2, NKX2-5
23transforming growth factor beta receptor signaling pathwayGO:0071799.0FOXH1, CITED2
24transcription from RNA polymerase II promoterGO:0063668.9GATA4, FOXH1, HAND1
25positive regulation of transcription, DNA-templatedGO:0458938.8GATA4, NKX2-5, FOXH1, CITED2
26negative regulation of transcription from RNA polymerase II promoterGO:0001228.7HAND1, CITED2, FOXH1, NKX2-5
27heart loopingGO:0019478.3GATA4, NKX2-5, FOXH1, CITED2, HAND1
28positive regulation of transcription from RNA polymerase II promoterGO:0459448.3HAND1, CITED2, FOXH1, NKX2-5, GATA4

Molecular functions related to Ventricular Septal Defect according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcriptionGO:0011909.3NKX2-5, FOXH1
2co-SMAD bindingGO:0704109.3FOXH1, GATA4
3chromatin bindingGO:0036829.2GATA4, NKX2-5, CITED2
4transcription coactivator activityGO:0037139.1GATA4, CITED2, HAND1
5RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.0FOXH1, NKX2-5, GATA4
6RNA polymerase II transcription cofactor activityGO:0011048.9NKX2-5, FOXH1
7transcription regulatory region DNA bindingGO:0442128.5GATA4, NKX2-5, FOXH1, HAND1
8transcription factor bindingGO:0081348.5GATA4, NKX2-5, FOXH1, HAND1
9sequence-specific DNA bindingGO:0435658.4GATA4, NKX2-5, FOXH1, HAND1
10sequence-specific DNA binding transcription factor activityGO:0037008.3CITED2, FOXH1, NKX2-5, GATA4

Products for genes affiliated with Ventricular Septal Defect

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Sources for Ventricular Septal Defect

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet