MCID: VNT002
MIFTS: 60

Ventricular Septal Defect

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ventricular Septal Defect

MalaCards integrated aliases for Ventricular Septal Defect:

Name: Ventricular Septal Defect 12 76 37 29 6 15
Heart Septal Defects, Ventricular 53 44
Ventricular Septal Defects 53 55
Interventricular Septal Defect 12
Ventricular Septal Abnormality 12
Septal, Ventricular Defect 40

Classifications:



External Ids:

Disease Ontology 12 DOID:1657
ICD10 33 Q21.0
ICD9CM 35 745.4
MeSH 44 D006345
NCIt 50 C84506
SNOMED-CT 68 30288003
KEGG 37 H01926
UMLS 73 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 eisenmenger syndrome and tricuspid atresia. An important gene associated with Ventricular Septal Defect is TBX5 (T-Box 5), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Human Embryonic Stem Cell Pluripotency. The drugs Anti-Asthmatic Agents and Adrenergic beta-Agonists have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 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 273)
# Related Disease Score Top Affiliating Genes
1 eisenmenger syndrome 32.8 CITED2 GATA4 NKX2-5
2 tricuspid atresia 32.6 GDF1 NKX2-6 ZFPM2
3 double outlet right ventricle 32.3 GATA4 GATA6 GDF1 ISL1 NKX2-5 NKX2-6
4 tetralogy of fallot 32.3 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
5 conotruncal heart malformations 32.2 GATA6 GDF1 NKX2-5 NKX2-6 ZFPM2
6 transposition of the great arteries 31.5 GDF1 NKX2-5
7 patent ductus arteriosus 1 30.8 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 NPPB
8 pulmonic stenosis 30.8 BRAF GATA4 GATA5 JAG1 NR2F2
9 atrioventricular block 30.8 GATA4 NKX2-5 NPPB TBX5
10 pulmonary valve stenosis 30.6 GATA4 JAG1 NKX2-6
11 aortic valve disease 1 30.5 GATA5 NKX2-5 NKX2-6 NPPB
12 atrial heart septal defect 30.5 BCOR GATA4 GATA6 GDF1 NKX2-5 NKX2-6
13 dextrocardia with situs inversus 30.4 CITED2 NODAL
14 atrioventricular septal defect 30.3 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX5
15 holt-oram syndrome 30.3 MYH7 NKX2-5 TBX5
16 aortic valve disease 2 30.0 MYH7 NKX2-6 NPPB TBX5
17 ebstein anomaly 29.9 GATA4 GDF1 MYH7 NKX2-5 NKX2-6 NPPB
18 hypoplastic left heart syndrome 29.9 NKX2-5 NKX2-6 NPPB
19 visceral heterotaxy 29.9 GDF1 NKX2-6 NODAL
20 total anomalous pulmonary venous return 1 29.7 GDF1 NKX2-6
21 patent foramen ovale 29.7 CITED2 GATA4 GATA6 NKX2-5 NKX2-6 TBX5
22 heart disease 29.6 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
23 pulmonary atresia with ventricular septal defect 12.7
24 ventricular septal defect 2 12.6
25 ventricular septal defect 3 12.6
26 ventricular septal defect 1 12.6
27 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 12.3
28 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 12.3
29 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 12.3
30 laubry-pezzi syndrome 11.8
31 aortic arch interruption 11.5
32 transposition of the great arteries, dextro-looped 1 11.4
33 methimazole antenatal exposure 11.4
34 ritscher-schinzel syndrome 1 11.3
35 heterotaxy, visceral, 1, x-linked 11.3
36 congenital heart defects, multiple types, 6 11.3
37 congenital heart defects and skeletal malformations syndrome 11.3
38 right pulmonary artery, anomalous origin of, familial 11.3
39 hirschsprung disease polydactyly heart disease 11.3
40 laurence prosser rocker syndrome 11.3
41 pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome 11.3
42 adams-oliver syndrome 1 11.1
43 renal hypodysplasia/aplasia 1 11.1
44 pagod syndrome 11.1
45 takayasu arteritis 11.1
46 right atrial isomerism 11.1
47 polysyndactyly with cardiac malformation 11.1
48 heterotaxy, visceral, 5, autosomal 11.1
49 microphthalmia, syndromic 2 11.1
50 heart defects, congenital, and other congenital anomalies 11.1

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:

26 (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 CITED2 GATA6 NODAL TBX5
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 CITED2 GATA6
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:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.48 BCOR BRAF CITED2 GATA4 GATA5 GATA6
2 cellular MP:0005384 10.35 BCOR BRAF GATA4 GATA5 GATA6 GDF1
3 embryo MP:0005380 10.35 BCOR BRAF CITED2 GATA4 GATA6 GDF1
4 growth/size/body region MP:0005378 10.32 BCOR BRAF CITED2 GATA4 GATA6 GDF1
5 homeostasis/metabolism MP:0005376 10.31 BRAF CITED2 GATA4 GATA5 GATA6 ISL1
6 mortality/aging MP:0010768 10.31 BCOR BRAF CITED2 GATA4 GATA5 GATA6
7 digestive/alimentary MP:0005381 10.25 BRAF CITED2 GATA4 GATA5 GDF1 ISL1
8 endocrine/exocrine gland MP:0005379 10.22 BRAF CITED2 GATA4 GATA5 GDF1 ISL1
9 muscle MP:0005369 10.18 BRAF GATA4 GATA5 GATA6 ISL1 JAG1
10 craniofacial MP:0005382 10.1 BRAF CITED2 GDF1 ISL1 JAG1 NKX2-5
11 nervous system MP:0003631 10.07 BCOR BRAF CITED2 GATA4 GDF1 ISL1
12 normal MP:0002873 10.03 BRAF CITED2 GATA4 GATA6 GDF1 ISL1
13 limbs/digits/tail MP:0005371 10.02 BRAF CITED2 GATA4 GATA6 HOMEZ ISL1
14 liver/biliary system MP:0005370 10 BRAF GATA4 GATA6 GDF1 JAG1 NODAL
15 no phenotypic analysis MP:0003012 9.92 GATA4 ISL1 JAG1 MYH7 NKX2-5 NODAL
16 reproductive system MP:0005389 9.76 BRAF GATA4 GATA5 GATA6 ISL1 NODAL
17 respiratory system MP:0005388 9.61 BRAF CITED2 GATA4 GATA6 GDF1 NKX2-5
18 skeleton MP:0005390 9.32 BRAF CITED2 GATA4 GATA5 GDF1 HOMEZ

Drugs & Therapeutics for Ventricular Septal Defect

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

(show top 50) (show all 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Asthmatic Agents Phase 4
2 Adrenergic beta-Agonists Phase 4
3 Adrenergic Agents Phase 4,Phase 2,Phase 1
4 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
5 Respiratory System Agents Phase 4
6 Adrenergic Agonists Phase 4,Phase 2,Phase 1
7 Adrenergic beta-2 Receptor Agonists Phase 4
8 Bronchodilator Agents Phase 4
9 Tocolytic Agents Phase 4
10 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
11 Autonomic Agents Phase 4
12 Albuterol Phase 4
13
Reteplase Approved, Investigational Phase 3 133652-38-7 65820
14
Abciximab Approved Phase 3 143653-53-6
15
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
16
Enalaprilat Approved Phase 3 76420-72-9 6917719
17 Platelet Aggregation Inhibitors Phase 3,Phase 1,Phase 2
18 Antibodies, Monoclonal Phase 3
19 Immunoglobulin Fab Fragments Phase 3
20 Anticoagulants Phase 3,Phase 2
21 Plasminogen Phase 3
22 Antibodies Phase 3
23 Tissue Plasminogen Activator Phase 3
24 Immunologic Factors Phase 3
25 Immunoglobulins Phase 3
26 Fibrinolytic Agents Phase 3
27 HIV Protease Inhibitors Phase 3
28 Antihypertensive Agents Phase 3
29
protease inhibitors Phase 3
30 Angiotensin-Converting Enzyme Inhibitors Phase 3
31
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
32
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
33
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
34
Dexmedetomidine Approved, Vet_approved Phase 2,Phase 1 113775-47-6 68602 5311068
35
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2,Phase 2 77-92-9 311
36 Excitatory Amino Acid Antagonists Phase 2
37 Anesthetics, Dissociative Phase 2
38 Anesthetics, Intravenous Phase 2,Not Applicable
39 Anesthetics Phase 2,Not Applicable
40 Central Nervous System Depressants Phase 2,Phase 1,Not Applicable
41 Excitatory Amino Acids Phase 2
42 Analgesics Phase 2,Phase 1,Not Applicable
43 Anesthetics, General Phase 2,Not Applicable
44 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
45 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
46 Phosphodiesterase Inhibitors Phase 1, Phase 2
47 Vasodilator Agents Phase 1, Phase 2
48 Citrate Phase 1, Phase 2,Phase 2
49 Cardiotonic Agents Phase 1, Phase 2
50 Protective Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. Completed 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 A Study of Abciximab and Reteplase When Administered Prior to Catherization After a Myocardial Infarction (Finesse) Completed NCT00046228 Phase 3 abciximab placebo; reteplase placebo, abciximab, abciximab;Abciximab; reteplase; abciximab placebo; abciximab;abciximab; reteplase placebo; abciximab placebo; abciximab;abciximab placebo; reteplase placebo, abciximab, abciximab;abciximab; reteplase placebo; abciximab placebo; abciximab;Abciximab; reteplase; abciximab placebo; abciximab
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 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
10 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
11 Evaluation of Myocardial Effects of Bendavia for Reducing Reperfusion Injury in Patients With Acute Coronary Events Completed NCT01572909 Phase 2 Bendavia (MTP-131);Placebo
12 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
13 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
14 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
15 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Active, not recruiting NCT01825369 Phase 1 IV L-carnitine
16 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
17 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
18 Transcatheter Closure Versus Surgery of Perimembranous Ventricular Septal Defects Completed NCT00890799 Not Applicable
19 Longterm Outcome After Ventricular Septal Defect Closure Completed NCT02138435
20 Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect Completed NCT01480908 Not Applicable
21 Hybrid Closure of Congenital Heart Disease Completed NCT02794584 Not Applicable sufentanil anesthesia
22 A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect Completed NCT02361008 Not Applicable
23 Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With Closed Ventricular Septal Defect Completed NCT02648984 Not Applicable
24 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832 Not Applicable
25 Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System Completed NCT00390702 Not Applicable
26 Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions Completed NCT02552485
27 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
28 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
29 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
30 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
31 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
32 Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass Completed NCT01228305 Not Applicable
33 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
34 Follow up of Post-repair Tetralogy of Fallot Completed NCT00266188
35 Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect Recruiting NCT03684161
36 Cardiac Function After Transcatheter VSD Closure Recruiting NCT03127748
37 French Observatory of Congenital Ventricular Septal Defect With Pulmonary Overload Recruiting NCT03363932
38 Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients Recruiting NCT02861963 Not Applicable
39 Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study Recruiting NCT00647387 Not Applicable
40 The AMPLATZER™ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) The AMPLATZER™ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) Post Approval Study Recruiting NCT03165526
41 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207 Not Applicable
42 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
43 Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Recruiting NCT03176225 Not Applicable
44 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100 Not Applicable
45 Rhythm Disturbances After Ventricular Septal Defects Terminated NCT00208624
46 Optimal Timing for Repair of Left to Right Shunt Lesions Terminated NCT00229827
47 Surgical Outcomes in Pediatric Patients With Coarctation and VSD Terminated NCT00327795
48 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 29

Anatomical Context for Ventricular Septal Defect

MalaCards organs/tissues related to Ventricular Septal Defect:

41
Heart, Lung, Testes, Liver, Brain, Eye, Bone

Publications for Ventricular Septal Defect

Articles related to Ventricular Septal Defect:

(show top 50) (show all 1693)
# Title Authors Year
1
Heart rate variability is impaired in adults after closure of ventricular septal defect in childhood: A novel finding associated with right bundle branch block. ( 30454724 )
2019
2
Ventricular Septal Defect Closure Devices, Techniques, and Outcomes. ( 30449417 )
2019
3
Surgical closure of a ventricular septal defect in early childhood leads to altered pulmonary function in adulthood: A long-term follow-up. ( 30001944 )
2019
4
Transatrial repair of post-infarction ventricular septal defect. ( 29368036 )
2018
5
Unusual combination of mitral valve prolapse, bicuspid aortic valve, and ventricular septal defect restricted by the tricuspid septal leaflet. ( 29339711 )
2018
6
Correction to: Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. ( 29744640 )
2018
7
Repair of Morgagni hernia and ventricular septal defect through sternotomy. ( 29378436 )
2018
8
Minimally invasive perventricular versus open surgical ventricular septal defect closure in infants and children: a randomised clinical trial. ( 29941505 )
2018
9
Bidirectional Shunt Trajectory in Ventricular Septal Defect With Eisenmenger's Syndrome. ( 29806624 )
2018
10
Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct. ( 29432197 )
2018
11
Ventricular Septal Defect Closure: How I Teach It. ( 29908192 )
2018
12
Double outlet right ventricle with subpulmonary ventricular septal defect (Taussig-Bing anomaly) and other complex congenital cardiac malformations in an American Quarter Horse foal. ( 29174590 )
2018
13
The Fate of the Tricuspid Valve Following the Transatrial Closure of the Ventricular Septal Defect. ( 29778818 )
2018
14
Acquired ventricular septal defect due to infective endocarditis. ( 29440841 )
2018
15
Impact of Phrenic Nerve Palsy and Need for Diaphragm Plication Following Surgery for Pulmonary Atresia With Ventricular Septal Defect and Major Aortopulmonary Collaterals. ( 29545034 )
2018
16
Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: collateral vessel disease burden and unifocalisation strategies. ( 29978776 )
2018
17
Utility of cardiac MRI in determining percutaneous versus surgical post-infarction ventricular septal defect repair. ( 29355029 )
2018
18
Peri-procedural antibiotic prophylaxis in ventricular septal defect: a case study to re-visit guidelines. ( 29404364 )
2018
19
A meta-analysis of transcatheter device closure of perimembranous ventricular septal defect. ( 29273241 )
2018
20
An analysis of patients requiring unifocalization revision following midline unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 29447337 )
2018
21
Ominous comorbidities: Small ventricular septal defect and warm autoimmune hemolytic anemia. ( 29440848 )
2018
22
Evaluation of Different Minimally Invasive Techniques in Surgical Treatment for Ventricular Septal Defect. ( 29153964 )
2018
23
Salivary interleukin-6 levels in children with early childhood caries and ventricular septal defect. ( 29970629 )
2018
24
Surgical algorithm and results for repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 29789151 )
2018
25
Restrictive perimembranous ventricular septal defect with left to right Shunt post urgent aortic balloon valvuloplasty and transcatheter aortic valve replacement. ( 29434633 )
2018
26
Importance of transcatheter closure test for giant ventricular septal defect associated with pulmonary hypertension: a case with successful surgical repair of the defect. ( 29923473 )
2018
27
Safe Administration of Electroconvulsive Therapy in Patient with Ventricular Septal Defect Patch: A Rare Case Report. ( 29962576 )
2018
28
Tricuspid valve straddling: An uncommon cause of left ventricular outflow tract obstruction in transposition of great artery with ventricular septal defect. ( 29336395 )
2018
29
Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. ( 29305732 )
2018
30
Single-stage repair of double outlet right ventricle with subpulmonic ventricular septal defect (Taussig-Bing anomaly). ( 29485771 )
2018
31
Surgical strategies for pulmonary atresia with ventricular septal defect associated with major aortopulmonary collateral arteries. ( 29802565 )
2018
32
Displacement of occluder as a rare complication of transcatheter closure of ventricular septal defect: A case report. ( 29979405 )
2018
33
Ablation of symptomatic ventricular tachycardia after surgical correction of ventricular septal defect in childhood: using high-density mapping, how precise is EnSite Precision? ( 29756200 )
2018
34
Catheter, MRI and CT Imaging in Newborns with Pulmonary Atresia with Ventricular Septal Defect and Aortopulmonary Collaterals: Quantifying the Risks of Radiation Dose and Anaesthetic Time. ( 29744658 )
2018
35
Intracardiac bronchogenic cyst associated with ventricular septal defect: an extremely rare feature in children. ( 29897508 )
2018
36
Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect. ( 29923154 )
2018
37
Aortopulmonary window with pumonary atresia with ventricular septal defect with D-transposition of great arteries: extremely rare anomaly. ( 29898907 )
2018
38
Differential Expression of CircRNAs in Embryonic Heart Tissue Associated with Ventricular Septal Defect. ( 29910675 )
2018
39
Concomitant repair of vascular ring with Kommerell's diverticulum and ventricular septal defect. ( 29314252 )
2018
40
Ventricular septal defect and left ventricular outflow tract obstruction after transcatheter aortic valve implantation. ( 29373376 )
2018
41
Transcatheter closure of ventricular septal defect in aortic valve prolapse and aortic regurgitation. ( 30170648 )
2018
42
Type I Second Degree Atrioventricular Block in a Woman With Remote Repair of a Ventricular Septal Defect. ( 30057230 )
2018
43
Late complete atrioventricular block after hybrid perimembranous ventricular septal defect closure in a neonate. ( 30338840 )
2018
44
Alterations in cerebral blood flow in children with congestive heart failure due to ventricular septal defect. ( 30280507 )
2018
45
Right-sided infective endocarditis in patients with uncorrected ventricular septal defect and patent ductus arteriosus: Two case reports. ( 30455914 )
2018
46
Increased incidence of infective endocarditis in patients with ventricular septal defect. ( 30259666 )
2018
47
Nature's balancing act: Infective endocarditis of pulmonary valve with ventricular septal defect in fifth decade; a rare and unusual presentation. ( 30279860 )
2018
48
A Case of Gerbode Ventricular Septal Defect Endocarditis. ( 30370384 )
2018
49
Post-myocardial infarction ventricular septal defect: A comprehensive review. ( 30527592 )
2018
50
Post-Myocardial Infarction Ventricular Septal Defect: Still a Deadly Complication 30 Years after the First Transcatheter Closure. ( 30430807 )
2018

Variations for Ventricular Septal Defect

ClinVar genetic disease variations for Ventricular Septal Defect:

6 (show all 20)
# 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
2 BRAF NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh38 Chromosome 7, 140778006: 140778006
3 covers 61 genes, none of which curated to show dosage sensitivity GRCh37/hg19 14q24.2-q24.3(chr14: 73152115..77698582) deletion Likely pathogenic GRCh37 Chromosome 14, 73152115: 77698582
4 FOXP4 NM_001012426.1(FOXP4): c.815delT (p.Leu272Profs) deletion Likely pathogenic rs1114167294 GRCh37 Chromosome 6, 41555193: 41555193
5 FOXP4 NM_001012426.1(FOXP4): c.815delT (p.Leu272Profs) deletion Likely pathogenic rs1114167294 GRCh38 Chromosome 6, 41587455: 41587455
6 AAR2 NM_015511.4(AAR2): c.520G> A (p.Val174Met) single nucleotide variant Likely pathogenic rs746800707 GRCh38 Chromosome 20, 36240388: 36240388
7 AAR2 NM_015511.4(AAR2): c.520G> A (p.Val174Met) single nucleotide variant Likely pathogenic rs746800707 GRCh37 Chromosome 20, 34828310: 34828310
8 FOXF1 NM_001451.2(FOXF1): c.280A> T (p.Asn94Tyr) single nucleotide variant Likely pathogenic rs1057518868 GRCh37 Chromosome 16, 86544455: 86544455
9 FOXF1 NM_001451.2(FOXF1): c.280A> T (p.Asn94Tyr) single nucleotide variant Likely pathogenic rs1057518868 GRCh38 Chromosome 16, 86510849: 86510849
10 SMARCA4 NM_001128849.1(SMARCA4): c.1358C> T (p.Thr453Ile) single nucleotide variant Likely benign rs1057518862 GRCh38 Chromosome 19, 10991262: 10991262
11 SMARCA4 NM_001128849.1(SMARCA4): c.1358C> T (p.Thr453Ile) single nucleotide variant Likely benign rs1057518862 GRCh37 Chromosome 19, 11101938: 11101938
12 RPS6KA3 NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 GRCh37 Chromosome X, 20211665: 20211665
13 RPS6KA3 NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 GRCh38 Chromosome X, 20193547: 20193547
14 TBX5 NM_000192.3(TBX5): c.1221C> G (p.Tyr407Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 114355868: 114355868
15 TBX5 NM_000192.3(TBX5): c.1221C> G (p.Tyr407Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 114793673: 114793673
16 MYCN NM_005378.5(MYCN): c.1226C> T (p.Pro409Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 16086050: 16086050
17 MYCN NM_005378.5(MYCN): c.1226C> T (p.Pro409Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 15945928: 15945928
18 HUWE1 NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 53596615: 53596615
19 HUWE1 NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 53569655: 53569655
20 FLVCR2 GRCh37/hg19 14q24.3(chr14: 76105695-76107636) copy number loss Uncertain significance GRCh37 Chromosome 14, 76105695: 76107636

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

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

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.98 CITED2 GATA6 NODAL NR2F2 ZFPM2
2 blood coagulation GO:0007596 9.97 GATA4 GATA5 GATA6 ZFPM2
3 positive regulation of angiogenesis GO:0045766 9.96 GATA4 GATA6 ISL1 NODAL
4 animal organ morphogenesis GO:0009887 9.91 BRAF GATA4 GATA5 GATA6 JAG1
5 negative regulation of cell migration GO:0030336 9.9 CITED2 JAG1 TBX5
6 male gonad development GO:0008584 9.9 CITED2 GATA4 GATA6
7 positive regulation of transcription by RNA polymerase II GO:0045944 9.9 CITED2 GATA4 GATA5 GATA6 ISL1 JAG1
8 lung development GO:0030324 9.88 NODAL TBX5 ZFPM2
9 BMP signaling pathway GO:0030509 9.88 GDF1 NKX2-5 NODAL
10 liver development GO:0001889 9.87 CITED2 GATA6 NODAL
11 vasculogenesis GO:0001570 9.85 CITED2 NKX2-5 ZFPM2
12 outflow tract morphogenesis GO:0003151 9.84 CITED2 ISL1 NKX2-5
13 heart looping GO:0001947 9.84 CITED2 GATA4 NKX2-5 NODAL
14 ventricular septum morphogenesis GO:0060412 9.83 CITED2 NKX2-5 ZFPM2
15 positive regulation of cardiac muscle cell proliferation GO:0060045 9.82 GATA6 TBX5 ZFPM2
16 ventricular septum development GO:0003281 9.8 CITED2 GATA4 TBX5
17 positive regulation of vascular endothelial growth factor production GO:0010575 9.79 GATA4 ISL1 NODAL
18 tissue development GO:0009888 9.78 GATA4 GATA5 GATA6
19 aortic valve morphogenesis GO:0003180 9.77 GATA4 GATA5 JAG1
20 embryonic heart tube development GO:0035050 9.77 NKX2-5 NKX2-6 NODAL
21 outflow tract septum morphogenesis GO:0003148 9.76 GATA6 ISL1 NKX2-5 ZFPM2
22 cardiac muscle tissue development GO:0048738 9.75 GATA6 NKX2-5 ZFPM2
23 pharyngeal system development GO:0060037 9.74 ISL1 NKX2-5 NKX2-6
24 cardiac right ventricle morphogenesis GO:0003215 9.73 GATA4 ISL1 JAG1
25 cardiac muscle cell differentiation GO:0055007 9.73 GATA4 GATA6 NKX2-5 TBX5
26 negative regulation of cardiac muscle cell proliferation GO:0060044 9.72 CITED2 TBX5
27 endocardial cushion development GO:0003197 9.72 CITED2 GATA4 TBX5
28 cell development GO:0048468 9.72 GATA4 GATA5 GATA6 GDF1 NODAL
29 adult heart development GO:0007512 9.71 MYH7 NKX2-5
30 cardiac muscle hypertrophy in response to stress GO:0014898 9.71 GATA6 MYH7
31 trophectodermal cell differentiation GO:0001829 9.71 CITED2 NODAL
32 cardiac septum morphogenesis GO:0060411 9.71 CITED2 JAG1
33 positive regulation of cell-cell adhesion GO:0022409 9.7 CITED2 NODAL
34 maternal placenta development GO:0001893 9.7 NODAL NR2F2
35 cardiac ventricle morphogenesis GO:0003208 9.69 GATA4 NKX2-5
36 ventricular cardiac muscle cell development GO:0055015 9.69 NKX2-5 NKX2-6
37 pericardium development GO:0060039 9.69 NKX2-6 TBX5
38 positive regulation of male gonad development GO:2000020 9.68 CITED2 ZFPM2
39 embryonic process involved in female pregnancy GO:0060136 9.68 CITED2 NODAL
40 pulmonary artery morphogenesis GO:0061156 9.67 CITED2 JAG1
41 intestinal epithelial cell differentiation GO:0060575 9.67 GATA4 GATA5 GATA6
42 anatomical structure formation involved in morphogenesis GO:0048646 9.67 GATA4 GATA5 GATA6 NODAL
43 embryonic heart tube left/right pattern formation GO:0060971 9.65 CITED2 NKX2-5
44 atrial cardiac muscle cell development GO:0055014 9.64 NKX2-5 NKX2-6
45 bundle of His development GO:0003166 9.63 NKX2-5 TBX5
46 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.63 CITED2 NODAL
47 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.61 NKX2-5 ZFPM2
48 atrial septum morphogenesis GO:0060413 9.56 GATA4 ISL1 NKX2-5 TBX5
49 heart development GO:0007507 9.36 BCOR CITED2 GATA4 GATA5 GATA6 ISL1
50 positive regulation of cardioblast differentiation GO:0051891 9.26 GATA4 GATA6 NKX2-5 TBX5

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.96 GATA4 GATA5 GATA6 HOMEZ ISL1 NKX2-5
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.91 GATA4 GATA5 GATA6 ISL1 NKX2-5 TBX5
3 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.88 GATA4 GATA5 GATA6 ISL1 NKX2-5
4 transcription coactivator activity GO:0003713 9.83 CITED2 GATA4 ISL1 ZFPM2
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 GATA4 NKX2-5 NKX2-6 TBX5
6 transcription regulatory region DNA binding GO:0044212 9.8 BCOR GATA4 GATA5 GATA6 NKX2-5
7 transcription factor binding GO:0008134 9.8 BCOR GATA4 GATA6 NKX2-5 TBX5 ZFPM2
8 transcription corepressor activity GO:0003714 9.77 BCOR CITED2 HOMEZ NR2F2 ZFPM2
9 sequence-specific DNA binding GO:0043565 9.76 GATA4 GATA5 GATA6 ISL1 NKX2-5 NKX2-6
10 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.69 GATA5 GATA6 NKX2-5
11 DNA-binding transcription factor activity GO:0003700 9.61 CITED2 GATA4 GATA5 GATA6 HOMEZ NKX2-5
12 enhancer sequence-specific DNA binding GO:0001158 8.92 GATA4 GATA5 GATA6 ISL1
13 DNA binding GO:0003677 10.16 GATA4 GATA5 GATA6 HOMEZ ISL1 NKX2-5

Sources for Ventricular Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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