MCID: VNT002
MIFTS: 59

Ventricular Septal Defect

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Ventricular Septal Defect

MalaCards integrated aliases for Ventricular Septal Defect:

Name: Ventricular Septal Defect 12 72 36 28 14
Heart Septal Defects, Ventricular 49 41
Ventricular Septal Defects 49 51
Interventricular Septal Defect 12
Ventricular Septal Abnormality 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1657
ICD10 32 Q21.0
ICD9CM 34 745.4
MeSH 41 D006345
NCIt 46 C84506
KEGG 36 H01926
UMLS 69 C0018818

Summaries for Ventricular Septal Defect

Disease Ontology : 12 A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.

MalaCards based summary : Ventricular Septal Defect, also known as heart septal defects, ventricular, is related to tricuspid atresia and conotruncal heart malformations. An important gene associated with Ventricular Septal Defect is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are BMP Pathway and Human Embryonic Stem Cell Pluripotency. The drugs Adrenergic Agents and Adrenergic Agonists have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 72 A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and... more...

Related Diseases for Ventricular Septal Defect

Diseases in the Ventricular Septal Defect family:

Ventricular Septal Defect 1 Ventricular Septal Defect 2
Ventricular Septal Defect 3

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

(show top 50) (show all 243)
# Related Disease Score Top Affiliating Genes
1 tricuspid atresia 32.0 GDF1 NKX2-5 NKX2-6 ZFPM2
2 conotruncal heart malformations 30.8 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
3 patent ductus arteriosus 1 30.2 GATA6 GDF1 NKX2-6 NPPB
4 atrioventricular block 30.1 GATA4 NKX2-5 NPPB TBX5
5 dextrocardia with situs inversus 30.0 CITED2 NODAL
6 atrial heart septal defect 30.0 GATA4 GDF1 NKX2-5 NKX2-6 TBX5
7 pulmonary valve stenosis 29.9 GATA4 JAG1 NKX2-6 TBX5
8 tetralogy of fallot 29.7 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
9 dextro-looped transposition of the great arteries 29.7 GDF1 NKX2-6
10 transposition of the great arteries 29.5 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 NPPB
11 atrioventricular septal defect 29.4 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX5
12 aortic valve disease 2 29.3 NKX2-6 NPPB TBX5
13 ebstein anomaly 29.3 GATA4 GDF1 NKX2-5 NKX2-6 NPPB
14 heart disease 27.2 CITED2 GATA4 GATA5 GDF1 ISL1 JAG1
15 pulmonary atresia with ventricular septal defect 12.6
16 ventricular septal defect 2 12.5
17 ventricular septal defect 3 12.5
18 ventricular septal defect 1 12.5
19 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome 12.2
20 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 12.1
21 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 12.1
22 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 12.1
23 laubry-pezzi syndrome 11.7
24 eisenmenger syndrome 11.4
25 aortic arch interruption 11.3
26 transposition of the great arteries, dextro-looped 1 11.3
27 ritscher-schinzel syndrome 1 11.1
28 heterotaxy, visceral, 1, x-linked 11.1
29 congenital heart defects and skeletal malformations syndrome 11.1
30 right pulmonary artery, anomalous origin of, familial 11.1
31 hirschsprung disease polydactyly heart disease 11.1
32 laurence prosser rocker syndrome 11.1
33 adams-oliver syndrome 1 11.0
34 ulnar-mammary syndrome 11.0
35 renal hypodysplasia/aplasia 1 11.0
36 pagod syndrome 11.0
37 takayasu arteritis 11.0
38 right atrial isomerism 11.0
39 polysyndactyly with cardiac malformation 11.0
40 heterotaxy, visceral, 5, autosomal 11.0
41 microphthalmia, syndromic 2 11.0
42 heart defects, congenital, and other congenital anomalies 11.0
43 left ventricular noncompaction 1 11.0
44 amegakaryocytic thrombocytopenia, congenital 11.0
45 goldberg-shprintzen syndrome 11.0
46 warsaw breakage syndrome 11.0
47 transposition of the great arteries, dextro-looped 3 11.0
48 hirschsprung disease, cardiac defects, and autonomic dysfunction 11.0
49 joubert syndrome 18 11.0
50 congenital heart defects, multiple types, 4 11.0

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



Diseases related to Ventricular Septal Defect

Symptoms & Phenotypes for Ventricular Septal Defect

GenomeRNAi Phenotypes related to Ventricular Septal Defect according to GeneCards Suite gene sharing:

25 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.78 GATA6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.78 NODAL TBX5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.78 CITED2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.78 GATA6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.78 TBX5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.78 NODAL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.78 NODAL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.78 GATA6 NODAL TBX5 CITED2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.78 NODAL
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.78 GATA6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.78 NODAL
12 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.78 TBX5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.78 NODAL
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 TBX5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.78 GATA6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.78 CITED2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.78 GATA6 CITED2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.78 GATA6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.78 CITED2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.78 GATA6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.78 TBX5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.78 TBX5
23 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.78 GATA6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 GATA6

MGI Mouse Phenotypes related to Ventricular Septal Defect:

43 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.47 GATA6 GATA4 GDF1 BCOR CITED2 GATA5
2 cellular MP:0005384 10.37 GATA6 GATA4 BCOR GATA5 NKX2-6 ISL1
3 embryo MP:0005380 10.37 GATA6 GATA4 GDF1 BCOR CITED2 TBX5
4 growth/size/body region MP:0005378 10.34 GATA6 GATA4 BCOR CITED2 TBX5 ISL1
5 mortality/aging MP:0010768 10.31 GATA6 GATA4 BCOR CITED2 GATA5 TBX5
6 homeostasis/metabolism MP:0005376 10.29 GATA5 CITED2 GATA6 GATA4 NKX2-6 ISL1
7 digestive/alimentary MP:0005381 10.28 GATA4 CITED2 GATA5 ISL1 NFATC1 NODAL
8 endocrine/exocrine gland MP:0005379 10.16 GATA5 CITED2 GATA4 ISL1 NKX2-5 GDF1
9 craniofacial MP:0005382 10.15 CITED2 ISL1 NFATC1 NODAL NKX2-5 GDF1
10 muscle MP:0005369 10.15 GATA6 GATA4 GATA5 TBX5 ISL1 NFATC1
11 limbs/digits/tail MP:0005371 10.06 CITED2 GATA6 GATA4 TBX5 ISL1 NFATC1
12 nervous system MP:0003631 10.02 CITED2 BCOR GATA4 JAG1 ISL1 NODAL
13 liver/biliary system MP:0005370 9.98 GATA6 GATA4 JAG1 NFATC1 NODAL GDF1
14 normal MP:0002873 9.9 GATA6 GATA4 CITED2 TBX5 ISL1 NODAL
15 no phenotypic analysis MP:0003012 9.86 GATA4 ISL1 NFATC1 NODAL NKX2-5 NR2F2
16 respiratory system MP:0005388 9.61 CITED2 GATA6 GATA4 NKX2-6 NFATC1 NODAL
17 skeleton MP:0005390 9.36 CITED2 GATA4 GATA5 TBX5 ISL1 NFATC1

Drugs & Therapeutics for Ventricular Septal Defect

Drugs for Ventricular Septal Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Adrenergic Agents Phase 4,Phase 1
2 Adrenergic Agonists Phase 4,Phase 1
3 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
4 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1
5 Adrenergic beta-2 Receptor Agonists Phase 4
6 Adrenergic beta-Agonists Phase 4
7 Albuterol Phase 4
8 Anti-Asthmatic Agents Phase 4
9 Autonomic Agents Phase 4
10 Bronchodilator Agents Phase 4
11 Respiratory System Agents Phase 4
12 Tocolytic Agents Phase 4
13
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
14
Enalaprilat Approved Phase 3 76420-72-9 6917719
15 Angiotensin-Converting Enzyme Inhibitors Phase 3
16 Antihypertensive Agents Phase 3
17 HIV Protease Inhibitors Phase 3
18
protease inhibitors Phase 3
19
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
20
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
21
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
22 Analgesics Phase 2,Phase 1
23 Anesthetics Phase 2
24 Anesthetics, Dissociative Phase 2
25 Anesthetics, General Phase 2
26 Anesthetics, Intravenous Phase 2
27 Central Nervous System Depressants Phase 2,Phase 1
28 Excitatory Amino Acid Antagonists Phase 2
29 Excitatory Amino Acids Phase 2
30 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
31 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
32 Phosphodiesterase Inhibitors Phase 1, Phase 2
33 Platelet Aggregation Inhibitors Phase 1, Phase 2
34 Protective Agents Phase 1, Phase 2
35 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
36 Vasodilator Agents Phase 1, Phase 2
37 Anticoagulants Phase 2
38 Blood Substitutes Phase 2
39 Dextrans Phase 2
40 Pharmaceutical Solutions Phase 2
41 Plasma Substitutes Phase 2
42 Citrate Nutraceutical Phase 1, Phase 2
43
Nitric Oxide Approved Phase 1 10102-43-9 145068
44
Dexmedetomidine Approved, Vet_approved Phase 1 76631-46-4, 113775-47-6 5311068 56032 68602
45 Adrenergic alpha-2 Receptor Agonists Phase 1
46 Adrenergic alpha-Agonists Phase 1
47 Analgesics, Non-Narcotic Phase 1
48 Hypnotics and Sedatives Phase 1
49 carnitine Nutraceutical Phase 1
50
Isoflurane Approved, Vet_approved 26675-46-7 3763

Interventional clinical trials:

(show all 45)

# Name Status NCT ID Phase Drugs
1 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. Not yet recruiting NCT02914652 Phase 4 Salbutamol;Norflouran (Placebo Evohaler(R) )
2 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Unknown status NCT02644330 Phase 2, Phase 3
3 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
4 Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System Suspended NCT00390702 Phase 2, Phase 3
5 Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation Terminated NCT00113698 Phase 3 Enalapril
6 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
7 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
8 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
9 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
10 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
11 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1 IV L-carnitine
12 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
13 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1 Dexmedetomidine
14 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
15 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
16 Transcatheter Closure Versus Surgery of Perimembranous Ventricular Septal Defects Completed NCT00890799
17 Longterm Outcome After Ventricular Septal Defect Closure Completed NCT02138435
18 Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect Completed NCT01480908
19 Hybrid Closure of Congenital Heart Disease Completed NCT02794584 sufentanil anesthesia
20 A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect Completed NCT02361008
21 Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With Closed Ventricular Septal Defect Completed NCT02648984
22 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832
23 Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions Completed NCT02552485
24 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
25 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
26 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Fentanyl;Fentanyl;Dexmedetomidine and Fentanyl
27 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
28 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
29 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
30 Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass Completed NCT01228305
31 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
32 Follow up of Post-repair Tetralogy of Fallot Completed NCT00266188
33 Cardiac Function After Transcatheter VSD Closure Recruiting NCT03127748
34 Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients Recruiting NCT02861963
35 Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study Recruiting NCT00647387
36 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207
37 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708
38 Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Recruiting NCT03176225
39 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100
40 French Observatory of Congenital Ventricular Septal Defect With Pulmonary Overload Not yet recruiting NCT03363932
41 The AMPLATZERâ„¢ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) The AMPLATZERâ„¢ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) Post Approval Study Not yet recruiting NCT03165526
42 Rhythm Disturbances After Ventricular Septal Defects Terminated NCT00208624
43 Optimal Timing for Repair of Left to Right Shunt Lesions Terminated NCT00229827
44 Surgical Outcomes in Pediatric Patients With Coarctation and VSD Terminated NCT00327795
45 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163

Search NIH Clinical Center for Ventricular Septal Defect

Cochrane evidence based reviews: heart septal defects, ventricular

Genetic Tests for Ventricular Septal Defect

Genetic tests related to Ventricular Septal Defect:

# Genetic test Affiliating Genes
1 Ventricular Septal Defect 28

Anatomical Context for Ventricular Septal Defect

MalaCards organs/tissues related to Ventricular Septal Defect:

38
Heart, Lung, Liver, Brain, Pineal, Colon

Publications for Ventricular Septal Defect

Articles related to Ventricular Septal Defect:

(show top 50) (show all 1124)
# Title Authors Year
1
Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. ( 29305732 )
2018
2
Acquired ventricular septal defect due to infective endocarditis. ( 29440841 )
2018
3
Unusual combination of mitral valve prolapse, bicuspid aortic valve, and ventricular septal defect restricted by the tricuspid septal leaflet. ( 29339711 )
2018
4
Transatrial repair of post-infarction ventricular septal defect. ( 29368036 )
2018
5
Tricuspid valve straddling: An uncommon cause of left ventricular outflow tract obstruction in transposition of great artery with ventricular septal defect. ( 29336395 )
2018
6
A meta-analysis of transcatheter device closure of perimembranous ventricular septal defect. ( 29273241 )
2018
7
Ventricular septal defect and left ventricular outflow tract obstruction after transcatheter aortic valve implantation. ( 29373376 )
2018
8
Restrictive perimembranous ventricular septal defect with left to right Shunt post urgent aortic balloon valvuloplasty and transcatheter aortic valve replacement. ( 29434633 )
2018
9
Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct. ( 29432197 )
2018
10
An analysis of patients requiring unifocalization revision following midline unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 29447337 )
2018
11
Utility of cardiac MRI in determining percutaneous versus surgical post-infarction ventricular septal defect repair. ( 29355029 )
2018
12
Peri-procedural antibiotic prophylaxis in ventricular septal defect: a case study to re-visit guidelines. ( 29404364 )
2018
13
Ominous comorbidities: Small ventricular septal defect and warm autoimmune hemolytic anemia. ( 29440848 )
2018
14
Concomitant repair of vascular ring with Kommerell's diverticulum and ventricular septal defect. ( 29314252 )
2018
15
Repair of Morgagni hernia and ventricular septal defect through sternotomy. ( 29378436 )
2018
16
Disappearing high velocity severe tricuspid regurgitation following Ventricular septal defect device closure. ( 28648440 )
2017
17
Interventricular septal hematoma following repair of a ventricular septal defect. ( 28493392 )
2017
18
Left Ventricular Noncompaction With Muscular Ventricular Septal Defect in Mother and Son. ( 28520539 )
2017
19
Stenting of right ventricular outflow tract in Tetralogy of Fallot with subarterial ventricular septal defect: A word of caution. ( 28928615 )
2017
20
Transcatheter closure of a membranous ventricular septal defect in a 1.8-kg infant using Amplatzer Duct Occluder II additional size device. ( 28506322 )
2017
21
Post-infarction ventricular septal defect due to an isolated septal myocardial infarct. ( 28677121 )
2017
22
TCF21 rs12190287 Polymorphisms Are Associated with Ventricular Septal Defects in a Chinese Population. ( 28346832 )
2017
23
Coronary-pulmonary arterial fistula in a neonate with pulmonary atresia-ventricular septal defect and single coronary artery. ( 28898455 )
2017
24
Postoperative interventricular septal haematoma following tetralogy of Fallot repair and perimembranous ventricular septal defect repair. ( 28364481 )
2017
25
Ventricular Septal Defect Complicating ST-Elevation Myocardial Infarctions: A Call for Action. ( 28065768 )
2017
26
Perventricular device closure of perimembranous ventricular septal defect: effectiveness of symmetric and asymmetric occluders. ( 28082474 )
2017
27
Evaluation of Ventricular Septal Defect with Special Reference to the Spontaneous Closure Rate, Subaortic Ridge, and Aortic Valve Prolapse II. ( 28401252 )
2017
28
Comparison of hemodynamic effects of sevoflurane and ketamine as basal anesthesia by a new and direct monitoring during induction in children with ventricular septal defect: A prospective, randomized research. ( 29390298 )
2017
29
Impaired ventilatory efficiency after closure of atrial or ventricular septal defect. ( 28502187 )
2017
30
Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review. ( 28624838 )
2017
31
Major Aortopulmonary Collateral Arteries With Anatomy Other Than Pulmonary Atresia/Ventricular Septal Defect. ( 28527961 )
2017
32
Single-Stage Repair of Coarctation of the Aorta and Ventricular Septal Defect: A Comparison of Surgical Strategies and Resource Utilization. ( 28901231 )
2017
33
Role of computed tomography angiography in the differentiation of feline truncus arteriosus communis from pulmonary atresia with ventricular septal defect. ( 29111286 )
2017
34
Direct closure of ventricular septal defect for left ventricular outflow tract obstruction in interrupted aortic arch. ( 28918205 )
2017
35
Traumatic Ventricular Septal Defect After Stab Wound to the Chest Missed by Transthoracic Echocardiography: A Case Report. ( 28759541 )
2017
36
Severe pulmonary arterial hypertension in a patient with small ventricular septal defect. ( 28077486 )
2017
37
Identification of a novel and functional mutation in the TBX5 gene in a patient by screening from 354 patients with isolated ventricular septal defect. ( 28434921 )
2017
38
The value of dual-source multi detector-row computed tomography in determining pulmonary blood supply in patients with pulmonary atresia with ventricular septal defect. ( 28703845 )
2017
39
Different predictivity of fluid responsiveness by pulse pressure variation in children after surgical repair of ventricular septal defect or tetralogy of Fallot. ( 28857356 )
2017
40
Extracorporeal membrane oxygenation before surgical repair of a postinfarction ventricular septal defect. ( 29338861 )
2017
41
Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series. ( 28511407 )
2017
42
Long-term Associations of an Early Corrected Ventricular Septal Defect and Stress Systems of Child and Mother at Primary School Age. ( 29379779 )
2017
43
Intelligent Phonocardiography for Screening Ventricular Septal Defect Using Time Growing Neural Network. ( 28679899 )
2017
44
Post-Myocardial Infarction Ventricular Septal Defect Six Months following Coronary Artery Bypass Grafting. ( 28846531 )
2017
45
Percutaneous Perventricular Device Closure of Ventricular Septal Defect: From Incision to Pinhole. ( 27884409 )
2017
46
Reconstruction of the pulmonary posterior wall using in situ autologous tissue for the treatment of pulmonary atresia with ventricular septal defect. ( 28231853 )
2017
47
Right-to-left shunting through the unidirectional valved patch after closure of ventricular septal defect. ( 28393787 )
2017
48
Does morphological vessel analysis address pulmonary vascular physiology in patients with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries? ( 28472241 )
2017
49
Prenatal diagnosis of pulmonary atresia with ventricular septal defect. ( 28752252 )
2017
50
Preincision Initiation of Dexmedetomidine Maximally Reduces the Risk of Junctional Ectopic Tachycardia in Children Undergoing Ventricular Septal Defect Repairs. ( 28774644 )
2017

Variations for Ventricular Septal Defect

ClinVar genetic disease variations for Ventricular Septal Defect:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh37 Chromosome 7, 140477806: 140477806

Expression for Ventricular Septal Defect

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

Pathways for Ventricular Septal Defect

GO Terms for Ventricular Septal Defect

Cellular components related to Ventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.85 CITED2 GATA4 GATA5 GATA6 ISL1 NFATC1
2 nucleus GO:0005634 9.47 BCOR CITED2 GATA4 GATA5 GATA6 HOMEZ
3 macromolecular complex GO:0032991 8.96 NKX2-5 TBX5

Biological processes related to Ventricular Septal Defect according to GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.97 GATA4 GATA5 GATA6 ZFPM2
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.96 BCOR CITED2 GATA6 HOMEZ ISL1 NKX2-5
3 in utero embryonic development GO:0001701 9.95 CITED2 GATA6 NODAL NR2F2 TWIST1 ZFPM2
4 positive regulation of angiogenesis GO:0045766 9.93 GATA4 GATA6 ISL1 NODAL TWIST1
5 male gonad development GO:0008584 9.89 CITED2 GATA4 GATA6
6 lung development GO:0030324 9.88 NODAL TBX5 ZFPM2
7 BMP signaling pathway GO:0030509 9.88 GDF1 NKX2-5 NODAL
8 liver development GO:0001889 9.88 CITED2 GATA6 NODAL
9 heart looping GO:0001947 9.87 CITED2 GATA4 NKX2-5 NODAL
10 negative regulation of cell differentiation GO:0045596 9.85 JAG1 NODAL TWIST1
11 vasculogenesis GO:0001570 9.85 CITED2 NKX2-5 ZFPM2
12 outflow tract morphogenesis GO:0003151 9.83 CITED2 ISL1 NKX2-5
13 positive regulation of cardiac muscle cell proliferation GO:0060045 9.82 GATA6 TBX5 ZFPM2
14 ventricular septum morphogenesis GO:0060412 9.8 CITED2 NKX2-5 ZFPM2
15 ventricular septum development GO:0003281 9.8 CITED2 GATA4 TBX5
16 cardiac muscle cell differentiation GO:0055007 9.8 GATA4 GATA6 NKX2-5 TBX5
17 positive regulation of vascular endothelial growth factor production GO:0010575 9.79 GATA4 ISL1 NODAL
18 cardiac muscle tissue development GO:0048738 9.77 GATA6 NKX2-5 ZFPM2
19 embryonic heart tube development GO:0035050 9.77 NKX2-5 NKX2-6 NODAL
20 pharyngeal system development GO:0060037 9.76 ISL1 NKX2-5 NKX2-6
21 outflow tract septum morphogenesis GO:0003148 9.76 GATA6 ISL1 NKX2-5 ZFPM2
22 cardiac right ventricle morphogenesis GO:0003215 9.75 GATA4 ISL1 JAG1
23 endocardial cushion development GO:0003197 9.73 CITED2 GATA4 TBX5
24 vasculature development GO:0001944 9.72 CITED2 NODAL
25 embryonic placenta development GO:0001892 9.72 CITED2 NODAL
26 negative regulation of cardiac muscle cell proliferation GO:0060044 9.72 CITED2 TBX5
27 endocardial cushion morphogenesis GO:0003203 9.71 ISL1 TWIST1
28 trophectodermal cell differentiation GO:0001829 9.71 CITED2 NODAL
29 atrial septum morphogenesis GO:0060413 9.71 GATA4 ISL1 NKX2-5 TBX5
30 positive regulation of cell-cell adhesion GO:0022409 9.7 CITED2 NODAL
31 intestinal epithelial cell differentiation GO:0060575 9.7 GATA4 GATA5 GATA6
32 maternal placenta development GO:0001893 9.69 NODAL NR2F2
33 cardiac septum morphogenesis GO:0060411 9.69 CITED2 JAG1
34 ventricular cardiac muscle cell development GO:0055015 9.69 NKX2-5 NKX2-6
35 cardiac ventricle morphogenesis GO:0003208 9.68 GATA4 NKX2-5
36 pericardium development GO:0060039 9.68 NKX2-6 TBX5
37 positive regulation of male gonad development GO:2000020 9.68 CITED2 ZFPM2
38 embryonic process involved in female pregnancy GO:0060136 9.67 CITED2 NODAL
39 pulmonary artery morphogenesis GO:0061156 9.66 CITED2 JAG1
40 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.65 JAG1 TWIST1
41 embryonic heart tube left/right pattern formation GO:0060971 9.65 CITED2 NKX2-5
42 atrial cardiac muscle cell development GO:0055014 9.64 NKX2-5 NKX2-6
43 bundle of His development GO:0003166 9.64 NKX2-5 TBX5
44 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.63 CITED2 NODAL
45 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.61 NKX2-5 ZFPM2
46 heart development GO:0007507 9.56 BCOR CITED2 ISL1 NKX2-5 NKX2-6 NODAL
47 positive regulation of cardioblast differentiation GO:0051891 9.46 GATA4 GATA6 NKX2-5 TBX5
48 positive regulation of transcription by RNA polymerase II GO:0045944 9.4 CITED2 GATA4 GATA5 GATA6 ISL1 JAG1
49 transcription, DNA-templated GO:0006351 10.25 BCOR CITED2 GATA4 GATA5 GATA6 HOMEZ
50 multicellular organism development GO:0007275 10.21 CITED2 ISL1 JAG1 NKX2-5 NKX2-6 NODAL

Molecular functions related to Ventricular Septal Defect according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.93 CITED2 GATA4 GATA5 GATA6 ISL1 NKX2-5
2 transcription regulatory region DNA binding GO:0044212 9.89 BCOR GATA4 GATA5 GATA6 NKX2-5
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.88 BCOR GATA4 GATA5 GATA6 NFATC1
4 sequence-specific DNA binding GO:0043565 9.86 GATA4 GATA5 GATA6 ISL1 NKX2-5 NKX2-6
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.85 GATA6 ISL1 NKX2-5 TBX5
6 transcription corepressor activity GO:0003714 9.83 BCOR CITED2 HOMEZ NR2F2 ZFPM2
7 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.77 GATA4 GATA5 GATA6 NKX2-5 TBX5
8 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.71 GATA5 GATA6 NFATC1 NKX2-5
9 RNA polymerase II transcription coactivator activity GO:0001105 9.7 CITED2 ISL1 ZFPM2
10 transcription factor binding GO:0008134 9.7 BCOR GATA4 GATA6 NKX2-5 TBX5 TWIST1
11 enhancer sequence-specific DNA binding GO:0001158 9.69 GATA4 GATA5 ISL1
12 bHLH transcription factor binding GO:0043425 9.54 ISL1 TWIST1
13 DNA binding transcription factor activity GO:0003700 9.36 CITED2 GATA4 GATA5 GATA6 HOMEZ NFATC1
14 RNA polymerase II transcription factor binding GO:0001085 9.35 GATA4 GATA5 GATA6 NFATC1 ZFPM2
15 DNA binding GO:0003677 10.06 GATA4 GATA5 GATA6 HOMEZ ISL1 NFATC1

Sources for Ventricular Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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