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

MalaCards based summary: 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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Ventricular Septal Defect, Aliases & Descriptions:

Name: Ventricular Septal Defect 8 10
Ventricular Septal Defects 42 44
Ventricular Septal Defect, Unspecified 8
Heart Septal Defects, Ventricular 42
 
Ventricular Septal Abnormality 8
Interventricular Septal Defect 8
Ventricular Septal Defect Nos 8
Septal Def.-Ventricular 8


Classifications:



External Ids:

Disease Ontology8 DOID:1657
MeSH34 D006345
NCIt39 C84506
ICD9CM27 745.4

Related Diseases for Ventricular Septal Defect

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Diseases in the Ventricular Septal Defect family:

Ventricular Septal Defect 3 Ventricular Septal Defect 2
Ventricular Septal Defect 1 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 286)
idRelated DiseaseScoreTop Affiliating Genes
1double outlet right ventricle31.6CFC1, GDF1
2tetralogy of fallot31.3GDF1, NKX2-5, GATA4
3tetrology of fallot31.0NKX2-5
4atrioventricular block31.0GATA4, NKX2-5
5atrioventricular septal defect30.8GATA4, NKX2-5
6congenital heart disease30.5GATA4, NKX2-5
7pulmonary atresia with ventricular septal defect11.2
8transposition of the great arteries11.0
9multiple ventricular septal defects10.9
10left ventricular outflow tract obstruction10.9
11myocardial infarction10.8
12hypertension10.8
13endocarditis10.8
14aneurysm10.8
15patent ductus arteriosus10.8
16aortic valve prolapse10.8
17pulmonic stenosis10.7
18pulmonary hypertension10.7
19eisenmenger syndrome10.7
20tricuspid atresia10.7
21aortic coarctation10.7
22dextrocardia10.7
23infective endocarditis10.6
24congenitally corrected transposition of the great arteries10.6
25right bundle branch block10.6
26double outlet right ventricle with subaortic ventricular septal defect10.6
27acute myocardial infarction10.5
28subacute bacterial endocarditis10.5
29pulmonary valve stenosis10.5
30aortopulmonary window10.5
31cor triatriatum10.5
32double outlet left ventricle10.5
33ventricular septal defect 310.5
34ventricular septal defect 210.5
35ventricular septal defect 110.5
36situs inversus10.4
37pericardial effusion10.4
38subvalvular aortic stenosis10.4
39subpulmonary stenosis10.4
40omphalocele10.4
41laubry-pezzi syndrome10.4
42single ventricular septal defect10.4
43aortic arch interruption10.4
44hypertrophic cardiomyopathy10.4
45constrictive pericarditis10.4
46cerebritis10.4
47pericarditis10.4
48holt-oram syndrome10.4
49coronary arterial fistulas10.4
50criss-cross heart10.4

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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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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MalaCards organs/tissues related to Ventricular Septal Defect:

32
Heart, Lung, Brain, Colon, Liver, Pineal

Animal Models for Ventricular Septal Defect or affiliated genes

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Publications for Ventricular Septal Defect

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Articles related to Ventricular Septal Defect:

(show top 50)    (show all 897)
idTitleAuthorsYear
1
Hybrid Stage I Palliation in a 1.1 kg, 28-Week Preterm Neonate With Posterior Malalignment Ventricular Septal Defect, Left Ventricular Outflow Tract Obstruction, and Coarctation of the Aorta. (25324263)
2014
2
Post-TAVR Ventricular Septal Defect in the Presence of Subaortic Membrane. (25323427)
2014
3
Use of femoral vein homograft for unifocalizing major aortopulmonary collateral arteries in a patient with pulmonaryA atresia with ventricular septal defect. (24075568)
2014
4
Demonstration of doubly committed juxta-arterial ventricular septal defect with aortic valve prolapse by cardiac computed tomography. (24582047)
2014
5
Concomitant surgical repair of a perimembranous ventricular septal defect and mitral regurgitation in an adult. (25231419)
2014
6
Muscular ventricular septal defect in a newborn with truncus arteriosus communis: perventricular transcatheter closure under echocardiographic guidance only, a case report. (25324260)
2014
7
Unusual association of aortic valve stenosis with ventricular septal defect and pulmonary atresia: Differentiation from truncus arteriosus with truncal valve stenosis. (23626446)
2013
8
Outcome and requirement for surgical repair following prenatal diagnosis of ventricular septal defect. (24357326)
2013
9
Percutaneous treatment of a post-TAVI ventricular septal defect: a successful combined procedure for an unusual complication. (22581693)
2013
10
Hybrid procedure for pulmonary atresia with ventricular septal defect in a low birth weight neonate. (23423321)
2013
11
Transcatheter closure of a traumatic ventricular septal defect using an Amplatzera8c atrial septal occluder device. (23483660)
2013
12
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
13
Double-Patch Repair by a Bilateral Ventriculotomy for Postinfarction Ventricular Septal Defect. (24298992)
2013
14
Constrictive pericarditis developed after childhood repair of ventricular septal defect. (23910801)
2013
15
Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot. (23020118)
2012
16
Genetic analysis of the TBX20 gene promoter region in patients with ventricular septal defects. (22465533)
2012
17
Two novel HAND1 mutations in Chinese patients with ventricular septal defect. (22032825)
2012
18
Pulmonary atresia with ventricular septal defect and multifocal pulmonary blood supply: does an intensive interventional approach improve the outcome? (22171603)
2012
19
Early migration of an Amplatzer muscular ventricular septal defect occluder device causing severe tricuspid valve obstruction. (22089813)
2012
20
A novel NKX2-5 mutation in familial ventricular septal defect. (21165553)
2011
21
Double orifice mitral valve associated with Ventricular Septal Defect in an infant: Case Report. (22368568)
2011
22
Post infarct ventricular septal defect tunnelling through the septum. (21809480)
2011
23
Ventricular septal defect with aortic valve insufficiency in a New Zealand White rabbit. (21730092)
2011
24
Hepatic and renal failure after anterior myocardial infarction induced apical ventricular septal defect. (21274286)
2010
25
A large left ventricular diverticulum in a patient with a previous ventricular septal defect. (20870651)
2010
26
Right ventricular remodeling in restrictive ventricular septal defect. (20637777)
2010
27
Subcutaneous fat necrosis of the newborn associated with ventricular septal defect and patent ductus arteriosus. (19702998)
2009
28
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
29
Ventricular septal diverticule and ventricular septal defect after penetrating cardiac trauma. (19196578)
2009
30
Gerbode ventricular septal defect diagnosed at cardiac MR imaging: case report. (19561249)
2009
31
Pre-operative evaluation with magnetic resonance imaging in tetralogy of fallot and pulmonary atresia with ventricular septal defect. (18575288)
2008
32
Gasless laparoscopic surgery for ovarian cyst in a second trimester pregnant patient with a ventricular septal defect. (18097327)
2007
33
Right aortic coarctation and ventricular septal defect: an unusual cause of tracheal compression in infancy. (18377543)
2006
34
Construction of a pulmonary artery pump for unifocalization and repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. (15918448)
2005
35
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
36
Repair of transposition of the great arteries, ventricular septal defect and left ventricular outflow tract obstruction. (15082275)
2004
37
Clinical implication of plasma natriuretic peptides in children with ventricular septal defect. (12828576)
2003
38
The morphologic nature of noncommitted ventricular septal defects in specimens with double-outlet right ventricle. (12407383)
2002
39
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
40
Pulmonary atresia with ventricular septal defect and persistent airway hyperresponsiveness. (11436051)
2001
41
Classification of pulmonary atresia with ventricular septal defect. (11465219)
2001
42
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
43
Intraventricular repair of double-outlet right ventricle with noncommitted ventricular septal defect: advantages of multiple patches. (10595979)
1999
44
Aortic coarctation, multiple ventricular septal defects, and anomalous coronary artery arising from the right pulmonary artery. (9451072)
1998
45
Pulmonary atresia with ventricular septal defect: a case for central venous pressure and oxygen saturation monitoring. (9713951)
1998
46
Surgical treatment of tetralogy of Fallot and pulmonary atresia with ventricular septal defect. (8279911)
1994
47
Left ventricular outflow tract obstruction with aortic arch anomalies and ventricular septal defect. (2241361)
1990
48
Cor triatriatum, coarctation of the aorta, and ventricular septal defect: a rare, surgically correctable anomaly. (2310258)
1990
49
Double outlet right ventricle with l-malposition and uncommitted ventricular septal defect. (1183465)
1975
50
Surgical treatment of congenital pulmonary atresia with ventricular septal defect. (5540464)
1971

Variations for Ventricular Septal Defect

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Expression for genes affiliated with Ventricular Septal Defect

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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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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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet