MCID: VNT002
MIFTS: 54

Ventricular Septal Defect malady

Summaries for Ventricular Septal Defect

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 atrioventricular septal defect and patent ductus arteriosus. An important gene associated with Ventricular Septal Defect is NKX2-5 (NK2 homeobox 5), and among its related pathways are HOP Signaling and Transcriptional Regulatory Network in Embryonic Stem Cell. The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and lung, and related mouse phenotypes are limbs/digits/tail and muscle.

Aliases & Classifications for Ventricular Septal Defect

Sources:
8Disease Ontology, 10DISEASES, 43NIH Rare Diseases, 45Novoseek, 57SNOMED-CT, 61UMLS, 27ICD9CM, 35MeSH, 40NCIt
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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


External Ids:

Disease Ontology8 DOID:1657
ICD9CM27 745.4
MeSH35 D006345
NCIt40 C84506

Related Diseases for Ventricular Septal Defect

Sources:
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 273)
idRelated DiseaseScoreTop Affiliating Genes
1atrioventricular septal defect31.2CLTCL1, GATA4, NKX2-5, TBX5
2patent ductus arteriosus31.1TBX1
3dextrocardia30.9SLC35B2
4atrioventricular block30.7NKX2-5, GATA4, NPPB
5atrial heart septal defect30.7GATA4, NKX2-5, NPPB, TBX5
6situs inversus30.6GDF1, ZIC3
7ebstein anomaly30.5TBX1
8holt-oram syndrome30.5TBX1, TBX5
9tetralogy of fallot30.5GATA4, GDF1, NKX2-5, GATA6
10double outlet right ventricle30.4GDF1, CFC1
11digeorge syndrome30.4TBX5, TBX1
12ulnar-mammary syndrome30.1TBX5
13pallister-hall syndrome30.1GLI1
14multiple ventricular septal defects10.9
15left ventricular outflow tract obstruction10.8
16septal myocardial infarction10.8
17aortic valve prolapse10.7
18tricuspid atresia10.7
19pulmonic stenosis10.7
20aortic coarctation10.7
21eisenmenger syndrome10.7
22ventricular septal defect 210.7
23double outlet left ventricle10.6
24single ventricular septal defect10.6
25ventricular septal defect 110.6
26acute myocardial infarction10.5
27subpulmonary stenosis10.5
28aortic incompetence10.5
29ventricular septal defect 310.5
30hypertrophic cardiomyopathy10.5
31subvalvular aortic stenosis10.5
32aortopulmonary window10.5
33pulmonary atresia with ventricular septal defect10.5
34aorta atresia10.4
35vascular disease10.4
36omphalocele10.4
37pulmonary artery hypoplasia10.4
38subacute bacterial endocarditis10.4
39inferior myocardial infarction10.4
40n syndrome10.4
41constrictive pericarditis10.4
42aortic arch interruption10.4
43cardiac rupture10.4
44complete atrioventricular canal10.4
45gerbode defect10.4
46pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus10.4
47coronary artery disease,10.3
48marfan syndrome10.3
49goldenhar syndrome10.3
50hajdu-cheney syndrome10.3

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



Diseases related to ventricular septal defect

Clinical Features for Ventricular Septal Defect

Drugs & Therapeutics for Ventricular Septal Defect

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Ventricular Septal Defect

Search NIH Clinical Center for Ventricular Septal Defect

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Genetic Tests for Ventricular Septal Defect

Anatomical Context for Ventricular Septal Defect

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

33
Liver, Brain, Lung, Heart, Colon, B cells, Fetal brain, Atrioventricular node, Fetal liver, Fetal lung, Pineal

Animal Models for Ventricular Septal Defect or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Ventricular Septal Defect

Sources:
51PubMed
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Articles related to Ventricular Septal Defect:

(show top 50)    (show all 918)
idTitleAuthorsYear
1
Patent ductus arteriosus closure using an Amplatzer(a8c) ventricular septal defect closure device. (24294051)
2013
2
Transcatheter closure of perimembranous ventricular septal defect with the Amplatzer(Ar) membranous VSD occluder 2: Initial world experience and one-year follow-up. (23703890)
2013
3
Ventricular septal defect: the three-dimensional point of view. (24251244)
2013
4
Percutaneous closure of iatrogenic ventricular septal defect following surgical aortic valve replacement using two different approaches. (23388239)
2013
5
Traumatic ventricular septal defect and flail tricuspid valve: Successful management by an extracorporeal membrane oxygenator-supported hybrid approach. (23728953)
2013
6
Calcified subaortic stenosis following ventricular septal defect surgery. (23774562)
2013
7
Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort. (23572340)
2013
8
A rare case of ventricular septal defect associated with patent ductus arteriosus and coarctation of aorta: a multimodality approach. (23622510)
2013
9
Review of ventricular septal defect in south western Saudi Arabia. (22886128)
2012
10
Incidental finding of traumatic ventricular septal defect on transesophageal echocardiography in the intensive care unit. (22763910)
2012
11
Case Images: Acquired Gerbode type ventricular septal defect after aortic valve replacement. (23187447)
2012
12
Transcatheter closure of the perimembranous ventricular septal defect-preclinical trial of a new Amplatzer device. (22162409)
2012
13
Anatomic biventricular repair in right isomerism with noncommitted ventricular septal defect. (23804876)
2012
14
Right ventricular outpouching associated with a ventricular septal defect: case report. (21947405)
2011
15
Does the technique of interventional closure of perimembranous ventricular septal defect reduce the incidence of heart block? (21281545)
2011
16
Prenatal diagnosis of mobile flap-like tissue on the ventricular septal defect in a newborn with trisomy 18. (21933268)
2011
17
Very late presentation ventricular septal defect following myocardial infarction. (21368322)
2011
18
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
19
Delayed papillary muscle rupture following repair of post-infarction ventricular septal defect. (20139194)
2010
20
Ebstein anomaly of the tricuspid valve, atrial septal defect, and severe right ventricular dysfunction in an adult: transesophageal echocardiographic images. (20042447)
2010
21
Continuous versus interrupted technique of ventricular septal defect (VSD) closure in total correction for tetrology of Fallot pertaining to residal VSD. (20419963)
2010
22
Radical surgery for a ventricular septal defect associated with trisomy 18. (20449712)
2010
23
Tricuspid valve replacement and ventricular septal defect repair in a patient with Glanzmann thrombasthenia. (19660396)
2010
24
One-stage repair of ventricular septal defect and severe tracheomalacia by aortopexy and posterior tracheal wall stabilization. (20417817)
2010
25
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
26
Deleterious effect of unintentional pacing from the middle cardiac vein in a patient with congenitally corrected transposition of the great arteries and ventricular septal defect. The beneficial effect of cardiac resynchronization therapy after heart surgery. (18758930)
2009
27
Natural aortic valve complications of ventricular septal defect: a prospective cohort study. (19255993)
2008
28
Radiofrequency perforation of the right ventricular outflow tract as a palliative strategy for pulmonary atresia with ventricular septal defect. (17377999)
2007
29
Anomalous left coronary artery arising from the left pulmonary artery, aortic coarctation, and a large ventricular septal defect. (16580453)
2006
30
Frequency of circumferential pericardial effusion by echocardiography in adults with foramen ovale type atrial septal defect versus ventricular septal defect. (17027580)
2006
31
Intraventricular rerouting for transposition of the great arteries with posterior aorta: ventricular septal defect creation and total resection of the infundibular septum. (16077446)
2005
32
Dual-catheter balloon occlusion aortography in pulmonary atresia with ventricular septal defect and major aorto-pulmonary collaterals. (15185050)
2004
33
Evolution of ventricular septal defect with special reference to spontaneous closure rate, subaortic ridge and aortic valve prolapse. (12360383)
2003
34
Pulmonary atresia with ventricular septal defect and persistent airway hyperresponsiveness. (11436051)
2001
35
Anaesthetic management of a patient with erythropoietic protoporphyria for ventricular septal defect closure. (10411776)
1999
36
Influence of surgery on aortic valve prolapse and aortic regurgitation in doubly committed subarterial ventricular septal defect. (10606121)
1999
37
One-stage repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries by a handmade trifurcated valved conduit. (8811410)
1996
38
Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia. (8677886)
1996
39
Surgical management of pulmonary atresia with ventricular septal defect and multiple aortopulmonary collaterals. (7514160)
1994
40
Surgical indications and treatment of mitral valve disease associated with secundum atrial septal defect with special reference to left ventricular geometry and function. (7698959)
1994
41
Transatrial-transpulmonary repair of atrioventricular septal defect with right ventricular outflow tract obstruction. (8286866)
1993
42
Importance of spontaneous closure of the ventricular part in atrioventricular septal defect. (1593750)
1992
43
Surgical correction of pulmonary atresia with ventricular septal defect and no central pulmonary arteries. (2296901)
1990
44
Growth of the pulmonary artery after neonatal balloon dilatation of the right ventricular outflow tract in an infant with the tetralogy of Fallot and atrioventricular septal defect. (2474311)
1989
45
Early results for anatomic correction of transposition of the great arteries and for double-outlet right ventricle with subpulmonary ventricular septal defect. (3339890)
1988
46
The deleterious effects of surgically induced complete right bundle branch block on long-term follow-up results of closure of ventricular septal defect. (142184)
1977
47
Echo-phonocardiographic and contrast studies in conditions associated with systemic arterial trunk overriding the ventricular septum: truncus arteriosus, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect. (1253387)
1976
48
Spontaneous closure of ventricular septal defect. Tricuspid atresia following Waterston's anastomosis. (4510104)
1973
49
Tricuspid atresia and ventricular septal defect in a 31-year-old woman. (5733880)
1968
50
Dilatation of the aorta and pulmonary artery with aortic and pulmonary insufficiency in the presence of a ventricular septal defect and infundibular pulmonic stenosis. Report of a case of forme fruste of the Marfan syndrome. (5923672)
1966

Genetic Variations for Ventricular Septal Defect

Expression for genes affiliated with Ventricular Septal Defect

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ventricular Septal Defect

Search GEO for disease gene expression data for Ventricular Septal Defect.

Pathways for genes affiliated with Ventricular Septal Defect

Sources:
52QIAGEN, 4Cell Signaling Technology, 54Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Ventricular Septal Defect

Sources:
45Novoseek, 24HMDB
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Compounds related to Ventricular Septal Defect according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc45 2411.0GLI1, NKX2-5, GATA6, GATA4, NPPB, ZIC3

GO Terms for genes affiliated with Ventricular Septal Defect

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

(show top 50)    (show all 53)
idNameGO IDScoreTop Affiliating Genes
1embryonic heart tube left/right pattern formationGO:06097110.8NKX2-5, CITED2
2bundle of His developmentGO:00316610.8NKX2-5, TBX5
3ventricular cardiac muscle tissue developmentGO:00322910.7TBX5, GATA4
4intestinal epithelial cell differentiationGO:06057510.7GATA4, GATA6
5atrioventricular valve morphogenesisGO:00318110.7GATA4, TBX5
6nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetryGO:190016410.7NODAL, CITED2
7endocardial cushion developmentGO:00319710.7TBX5, GATA4, CITED2
8embryonic process involved in female pregnancyGO:06013610.7CITED2, NODAL
9atrial septum morphogenesisGO:06041310.7TBX20, GATA4, NKX2-5
10cardiac muscle cell differentiationGO:05500710.7TBX5, NKX2-5, GATA6
11cardiac right ventricle morphogenesisGO:00321510.7TBX20, GATA4
12oxalate transportGO:01953210.7SLC26A7, SLC26A8
13cardiac muscle hypertrophy in response to stressGO:01489810.7BMP10, GATA4, GATA6
14response to estrogen stimulusGO:04362710.7GATA4, GATA6, CITED2
15cardiac muscle tissue morphogenesisGO:05500810.7TBX20, NKX2-5
16BMP signaling pathwayGO:03050910.6BMP10, GATA4, NKX2-5
17ventricular cardiac muscle cell developmentGO:05501510.6BMP10, NKX2-5
18positive regulation of cardioblast differentiationGO:05189110.6GATA4, GATA6, NKX2-5, TBX5
19regulation of cardiac muscle contractionGO:05511710.6NKX2-5, BMP10
20endoderm formationGO:00170610.6TBX20, GATA4
21anion transportGO:00682010.6SLC26A7, SLC26A8
22male gonad developmentGO:00858410.6CITED2, GATA6, GATA4
23negative regulation of cell migrationGO:03033610.6BMP10, TBX5, CITED2
24cardiac muscle cell proliferationGO:06003810.6BMP10, NKX2-5
25positive regulation of cell-cell adhesionGO:02240910.6CITED2, NODAL
26pattern specification processGO:00738910.6TBX1, TBX5, UNCX
27lung developmentGO:03032410.6GLI1, ZIC3, TBX5
28liver developmentGO:00188910.6GATA6, NODAL, CITED2
29adult heart developmentGO:00751210.6NKX2-5, BMP10
30outflow tract septum morphogenesisGO:00314810.6GATA6, TBX20, TBX1, NKX2-5
31ventricular septum developmentGO:00328110.6TBX5, GATA4
32determination of left/right symmetryGO:00736810.6CFC1, CITED2, ZIC3, TBX1
33heart trabecula formationGO:06034710.6NKX2-5, BMP10
34positive regulation of angiogenesisGO:04576610.6GATA6, NODAL, GATA4
35pharyngeal system developmentGO:06003710.5NKX2-5, TBX1
36positive regulation of cardiac muscle cell proliferationGO:06004510.5BMP10, TBX20, TBX5, GATA4, GATA6
37sulfate transportGO:00827210.5SLC26A7, SLC26A8
38digestive tract morphogenesisGO:04854610.5NODAL, GLI1
39SMAD protein signal transductionGO:06039510.5GATA4, NODAL
40positive regulation vascular endothelial growth factor productionGO:01057510.5NODAL, GATA4
41heart loopingGO:00194710.4ZIC3, CITED2, NKX2-5, TBX20, NODAL, GATA4
42thyroid gland developmentGO:03087810.4NKX2-5, TBX1
43negative regulation of transcription from RNA polymerase II promoterGO:00012210.4TBX20, NKX2-5, CITED2, GATA6, NODAL
44ventricular septum morphogenesisGO:06041210.4CITED2, NKX2-5
45sarcomere organizationGO:04521410.3NKX2-5, BMP10
46embryonic cranial skeleton morphogenesisGO:04870110.3NODAL, TBX1
47positive regulation of transcription, DNA-dependentGO:04589310.3CITED2, ZIC3, GATA4, BMP10, NKX2-5, GLI1
48positive regulation of transcription from RNA polymerase II promoterGO:04594410.2GATA6, NKX2-5, GATA4, ZIC3, TBX5, NODAL
49heart developmentGO:00750710.1TBX5, TBX1, CITED2
50embryonic placenta developmentGO:00189210.0CITED2, NODAL

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:00097710.4TBX20, TBX5, GATA4
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.4NKX2-5, GLI1, GATA4, GATA6
3oxalate transmembrane transporter activityGO:01953110.4SLC26A7, SLC26A8
4RNA polymerase II transcription coactivator activityGO:00110510.3CITED2, TBX20
5anion:anion antiporter activityGO:01530110.3SLC26A8, SLC26A7
6chromatin bindingGO:00368210.2GLI1, GATA4, GATA6, NKX2-5, CITED2
7transcription regulatory region DNA bindingGO:04421210.2GATA4, GATA6, NKX2-5, GLI1
8sequence-specific DNA bindingGO:04356510.2ZIC3, GATA4, NKX2-5, TBX5, TBX1, UNCX
9sulfate transmembrane transporter activityGO:01511610.2SLC26A8, SLC26A7
10sequence-specific DNA binding transcription factor activityGO:00370010.0TBX20, TBX1, TBX5, NKX2-5, CITED2, GATA6
11transcription factor bindingGO:0081349.9GATA4, NKX2-5, TBX5, GATA6

Products for genes affiliated with Ventricular Septal Defect

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Sources for Ventricular Septal Defect

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet