MCID: VNT002
MIFTS: 58

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 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
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 transposition of the great arteries and tricuspid atresia. An important gene associated with Ventricular Septal Defect is TBX5 (T-Box 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 brain, 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 235)
# Related Disease Score Top Affiliating Genes
1 transposition of the great arteries 31.7 GDF1 NKX2-5 ZFPM2
2 tricuspid atresia 31.6 GDF1 NKX2-5 NKX2-6 ZFPM2
3 conotruncal heart malformations 30.9 GATA6 GDF1 NKX2-5 NKX2-6 ZFPM2
4 pulmonic stenosis 30.7 BRAF JAG1 NR2F2
5 dextrocardia with situs inversus 30.5 CITED2 NODAL
6 dextrocardia 30.4 MYH7 NODAL
7 holt-oram syndrome 30.2 MYH7 NKX2-5 TBX5
8 double outlet right ventricle 30.2 GATA4 GATA6 GDF1 ISL1 NKX2-5 NKX2-6
9 atrioventricular block 30.1 GATA4 NKX2-5 NPPB TBX5
10 patent ductus arteriosus 1 29.4 GATA4 GATA6 GDF1 NKX2-6 NPPB
11 pulmonary valve stenosis 29.4 GATA4 JAG1 NKX2-6 TBX5
12 total anomalous pulmonary venous return 1 29.0 GDF1 NKX2-6
13 atrioventricular septal defect 28.7 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX5
14 aortic valve disease 2 28.6 MYH7 NKX2-6 NPPB TBX5
15 ebstein anomaly 28.2 GATA4 GDF1 MYH7 NKX2-5 NKX2-6 NPPB
16 tetralogy of fallot 28.0 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
17 atrial heart septal defect 28.0 BCOR GATA4 GATA6 GDF1 NKX2-5 NKX2-6
18 heart disease 24.8 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
19 pulmonary atresia with ventricular septal defect 12.6
20 ventricular septal defect 2 12.5
21 ventricular septal defect 3 12.5
22 ventricular septal defect 1 12.5
23 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 12.1
24 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 12.1
25 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 12.1
26 laubry-pezzi syndrome 11.7
27 eisenmenger syndrome 11.5
28 aortic arch interruption 11.3
29 transposition of the great arteries, dextro-looped 1 11.3
30 ritscher-schinzel syndrome 1 11.1
31 heterotaxy, visceral, 1, x-linked 11.1
32 congenital heart defects and skeletal malformations syndrome 11.1
33 right pulmonary artery, anomalous origin of, familial 11.1
34 hirschsprung disease polydactyly heart disease 11.1
35 laurence prosser rocker syndrome 11.1
36 pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome 11.1
37 adams-oliver syndrome 1 11.0
38 renal hypodysplasia/aplasia 1 11.0
39 pagod syndrome 11.0
40 takayasu arteritis 11.0
41 right atrial isomerism 11.0
42 polysyndactyly with cardiac malformation 11.0
43 heterotaxy, visceral, 5, autosomal 11.0
44 microphthalmia, syndromic 2 11.0
45 heart defects, congenital, and other congenital anomalies 11.0
46 amegakaryocytic thrombocytopenia, congenital 11.0
47 goldberg-shprintzen syndrome 11.0
48 warsaw breakage syndrome 11.0
49 congenital heart defects, multiple types, 6 11.0
50 hirschsprung disease, cardiac defects, and autonomic dysfunction 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:

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 NODAL TBX5 CITED2 GATA6
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 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.47 NKX2-6 TBX5 NODAL MYH7 NKX2-5 NR2F2
2 cellular MP:0005384 10.34 NKX2-6 NODAL NKX2-5 ZFPM2 GATA5 BCOR
3 embryo MP:0005380 10.34 NKX2-6 TBX5 NODAL NKX2-5 NR2F2 CITED2
4 growth/size/body region MP:0005378 10.31 NR2F2 NKX2-6 NODAL NKX2-5 TBX5 CITED2
5 mortality/aging MP:0010768 10.31 NR2F2 NKX2-6 NODAL NKX2-5 TBX5 ZFPM2
6 homeostasis/metabolism MP:0005376 10.29 NR2F2 NKX2-6 NODAL NKX2-5 TBX5 ZFPM2
7 digestive/alimentary MP:0005381 10.24 NODAL NKX2-5 NR2F2 GATA5 CITED2 GATA4
8 endocrine/exocrine gland MP:0005379 10.21 NR2F2 NKX2-5 ZFPM2 GATA5 CITED2 GATA4
9 muscle MP:0005369 10.18 TBX5 NODAL MYH7 NKX2-5 NR2F2 ZFPM2
10 craniofacial MP:0005382 10.09 NODAL NKX2-5 BRAF CITED2 GDF1 JAG1
11 nervous system MP:0003631 10.07 NKX2-5 NR2F2 JAG1 NODAL GATA4 BRAF
12 normal MP:0002873 10.03 NKX2-6 NODAL NKX2-5 TBX5 ZFPM2 CITED2
13 liver/biliary system MP:0005370 10 NODAL ZFPM2 GATA4 BRAF GDF1 JAG1
14 no phenotypic analysis MP:0003012 9.92 NR2F2 MYH7 NODAL NKX2-5 ZFPM2 GATA4
15 reproductive system MP:0005389 9.76 NR2F2 NODAL ZFPM2 GATA4 BRAF GATA5
16 respiratory system MP:0005388 9.61 NKX2-6 NODAL NKX2-5 ZFPM2 CITED2 GATA4
17 skeleton MP:0005390 9.28 NODAL TBX5 BRAF GATA4 CITED2 GDF1

Drugs & Therapeutics for Ventricular Septal Defect

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

(show top 50) (show all 80)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Adrenergic Agents Phase 4,Phase 1,Not Applicable
2 Adrenergic Agonists Phase 4,Phase 1,Not Applicable
3 Adrenergic beta-2 Receptor Agonists Phase 4
4 Adrenergic beta-Agonists Phase 4
5 Albuterol Phase 4
6 Anti-Asthmatic Agents Phase 4
7 Autonomic Agents Phase 4
8 Bronchodilator Agents Phase 4
9 Neurotransmitter Agents Phase 4,Phase 2,Phase 1,Not Applicable
10 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
11 Respiratory System Agents Phase 4
12 Tocolytic Agents Phase 4
13
Abciximab Approved Phase 3 143653-53-6
14
Reteplase Approved, Investigational Phase 3 133652-38-7 65820
15
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
16
Enalaprilat Approved Phase 3 76420-72-9 6917719
17 Antibodies Phase 3
18 Antibodies, Monoclonal Phase 3
19 Anticoagulants Phase 3,Phase 2
20 Fibrinolytic Agents Phase 3
21 Immunoglobulin Fab Fragments Phase 3
22 Immunoglobulins Phase 3
23 Plasminogen Phase 3
24 Platelet Aggregation Inhibitors Phase 3,Phase 1,Phase 2
25 Tissue Plasminogen Activator Phase 3
26 Angiotensin-Converting Enzyme Inhibitors Phase 3
27 Antihypertensive Agents Phase 3
28 HIV Protease Inhibitors Phase 3
29
protease inhibitors Phase 3
30
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
31
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
32
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
33 Analgesics Phase 2,Phase 1,Not Applicable
34 Anesthetics Phase 2,Not Applicable
35 Anesthetics, Dissociative Phase 2
36 Anesthetics, General Phase 2,Not Applicable
37 Anesthetics, Intravenous Phase 2,Not Applicable
38 Central Nervous System Depressants Phase 2,Phase 1,Not Applicable
39 Excitatory Amino Acid Antagonists Phase 2
40 Excitatory Amino Acids Phase 2
41 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
42 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
43 Phosphodiesterase Inhibitors Phase 1, Phase 2
44 Protective Agents Phase 1, Phase 2
45 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
46 Vasodilator Agents Phase 1, Phase 2
47 Blood Substitutes Phase 2
48 Dextrans Phase 2
49 Pharmaceutical Solutions Phase 2
50 Plasma Substitutes Phase 2

Interventional clinical trials:

(show all 47)
# 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 Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System Suspended NCT00390702 Phase 2, Phase 3
6 Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation Terminated NCT00113698 Phase 3 Enalapril
7 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
8 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
9 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
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 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1 IV L-carnitine
14 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
15 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
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 Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions Completed NCT02552485
26 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
27 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
28 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Not Applicable Fentanyl;Fentanyl;Dexmedetomidine and Fentanyl
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 Cardiac Function After Transcatheter VSD Closure Recruiting NCT03127748
36 French Observatory of Congenital Ventricular Septal Defect With Pulmonary Overload Recruiting NCT03363932
37 Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients Recruiting NCT02861963 Not Applicable
38 Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study Recruiting NCT00647387 Not Applicable
39 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 Recruiting NCT03165526
40 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207 Not Applicable
41 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
42 Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Recruiting NCT03176225 Not Applicable
43 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
44 Rhythm Disturbances After Ventricular Septal Defects Terminated NCT00208624
45 Optimal Timing for Repair of Left to Right Shunt Lesions Terminated NCT00229827
46 Surgical Outcomes in Pediatric Patients With Coarctation and VSD Terminated NCT00327795
47 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, Brain, Liver, Pineal, Testes, Colon

Publications for Ventricular Septal Defect

Articles related to Ventricular Septal Defect:

(show top 50) (show all 1337)
# Title Authors Year
1
Transatrial repair of post-infarction ventricular septal defect. ( 29368036 )
2018
2
Unusual combination of mitral valve prolapse, bicuspid aortic valve, and ventricular septal defect restricted by the tricuspid septal leaflet. ( 29339711 )
2018
3
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
4
Repair of Morgagni hernia and ventricular septal defect through sternotomy. ( 29378436 )
2018
5
Minimally invasive perventricular versus open surgical ventricular septal defect closure in infants and children: a randomised clinical trial. ( 29941505 )
2018
6
Bidirectional Shunt Trajectory in Ventricular Septal Defect With Eisenmenger's Syndrome. ( 29806624 )
2018
7
Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct. ( 29432197 )
2018
8
Ventricular Septal Defect Closure: How I Teach It. ( 29908192 )
2018
9
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
10
The Fate of the Tricuspid Valve Following the Transatrial Closure of the Ventricular Septal Defect. ( 29778818 )
2018
11
Acquired ventricular septal defect due to infective endocarditis. ( 29440841 )
2018
12
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
13
Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: collateral vessel disease burden and unifocalisation strategies. ( 29978776 )
2018
14
Utility of cardiac MRI in determining percutaneous versus surgical post-infarction ventricular septal defect repair. ( 29355029 )
2018
15
Peri-procedural antibiotic prophylaxis in ventricular septal defect: a case study to re-visit guidelines. ( 29404364 )
2018
16
A meta-analysis of transcatheter device closure of perimembranous ventricular septal defect. ( 29273241 )
2018
17
An analysis of patients requiring unifocalization revision following midline unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 29447337 )
2018
18
Ominous comorbidities: Small ventricular septal defect and warm autoimmune hemolytic anemia. ( 29440848 )
2018
19
Evaluation of Different Minimally Invasive Techniques in Surgical Treatment for Ventricular Septal Defect. ( 29153964 )
2018
20
Salivary interleukin-6 levels in children with early childhood caries and ventricular septal defect. ( 29970629 )
2018
21
Surgical algorithm and results for repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 29789151 )
2018
22
Restrictive perimembranous ventricular septal defect with left to right Shunt post urgent aortic balloon valvuloplasty and transcatheter aortic valve replacement. ( 29434633 )
2018
23
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
24
Safe Administration of Electroconvulsive Therapy in Patient with Ventricular Septal Defect Patch: A Rare Case Report. ( 29962576 )
2018
25
Tricuspid valve straddling: An uncommon cause of left ventricular outflow tract obstruction in transposition of great artery with ventricular septal defect. ( 29336395 )
2018
26
Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. ( 29305732 )
2018
27
Single-stage repair of double outlet right ventricle with subpulmonic ventricular septal defect (Taussig-Bing anomaly). ( 29485771 )
2018
28
Surgical strategies for pulmonary atresia with ventricular septal defect associated with major aortopulmonary collateral arteries. ( 29802565 )
2018
29
Displacement of occluder as a rare complication of transcatheter closure of ventricular septal defect: A case report. ( 29979405 )
2018
30
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
31
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
32
Intracardiac bronchogenic cyst associated with ventricular septal defect: an extremely rare feature in children. ( 29897508 )
2018
33
Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect. ( 29923154 )
2018
34
Aortopulmonary window with pumonary atresia with ventricular septal defect with D-transposition of great arteries: extremely rare anomaly. ( 29898907 )
2018
35
Differential Expression of CircRNAs in Embryonic Heart Tissue Associated with Ventricular Septal Defect. ( 29910675 )
2018
36
Concomitant repair of vascular ring with Kommerell's diverticulum and ventricular septal defect. ( 29314252 )
2018
37
Ventricular septal defect and left ventricular outflow tract obstruction after transcatheter aortic valve implantation. ( 29373376 )
2018
38
A case of ventricular septal defect detected after myomectomy by intra-operative transesophageal echocardiography in patient with situs inversus and double-chambered right ventricle. ( 29740751 )
2018
39
Collateral benefit in pulmonary atresia with ventricular septal defect? ( 29753507 )
2018
40
Septic Shock, Meningoencephalitis and Multiple Pulmonary Emboli: Case Report of an Uncommon Clinical Presentation of Ventricular Septal Defect Acute Infective Endocarditis. ( 29762935 )
2017
41
Simultaneous transcatheter therapy for perimembranous ventricular septal defect combined with patent ductus arteriosus. ( 28497553 )
2017
42
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
43
Impaired ventilatory efficiency after closure of atrial or ventricular septal defect. ( 28502187 )
2017
44
Intelligent Phonocardiography for Screening Ventricular Septal Defect Using Time Growing Neural Network. ( 28679899 )
2017
45
Disappearing high velocity severe tricuspid regurgitation following Ventricular septal defect device closure. ( 28648440 )
2017
46
Percutaneous closure of multiple ventricular septal defects: simultaneous use of muscular ventricular septal defect device and Multi-Fenestrated Septal Occluder - "Cribriform" to close residual ventricular septal defects after complex cardiac surgery in a child. ( 28281413 )
2017
47
Transcatheter closure of a membranous ventricular septal defect in a 1.8-kg infant using Amplatzer Duct Occluder II additional size device. ( 28506322 )
2017
48
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
49
Transverse Sternal Split: a Safe Mini-invasive Approach for Perventricular Device Closure of Ventricular Septal Defect. ( 28832796 )
2017
50
Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review. ( 28624838 )
2017

Variations for Ventricular Septal Defect

ClinVar genetic disease variations for Ventricular Septal Defect:

6
(show all 27)
# 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 46;XY;t(16;20)(q11.2;q13.2)dn Translocation Uncertain significance
9 complex Uncertain significance
10 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
11 46;XY;t(2;13)(p25.2;q31.3)dn Translocation Uncertain significance
12 46;XY;t(6;20)(p12;q13.1)dn Translocation Uncertain significance
13 46;XY;inv(9)(p24q12) inversion Uncertain significance
14 46;XY;t(5;7)(q35;q33)dn Translocation Pathogenic
15 FOXF1 NM_001451.2(FOXF1): c.280A> T (p.Asn94Tyr) single nucleotide variant Likely pathogenic rs1057518868 GRCh37 Chromosome 16, 86544455: 86544455
16 FOXF1 NM_001451.2(FOXF1): c.280A> T (p.Asn94Tyr) single nucleotide variant Likely pathogenic rs1057518868 GRCh38 Chromosome 16, 86510849: 86510849
17 SMARCA4 NM_001128849.1(SMARCA4): c.1358C> T (p.Thr453Ile) single nucleotide variant Likely benign rs1057518862 GRCh38 Chromosome 19, 10991262: 10991262
18 SMARCA4 NM_001128849.1(SMARCA4): c.1358C> T (p.Thr453Ile) single nucleotide variant Likely benign rs1057518862 GRCh37 Chromosome 19, 11101938: 11101938
19 RPS6KA3 NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 GRCh37 Chromosome X, 20211665: 20211665
20 RPS6KA3 NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 GRCh38 Chromosome X, 20193547: 20193547
21 TBX5 NM_000192.3(TBX5): c.1221C> G (p.Tyr407Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 114793673: 114793673
22 TBX5 NM_000192.3(TBX5): c.1221C> G (p.Tyr407Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 114355868: 114355868
23 MYCN NM_005378.5(MYCN): c.1226C> T (p.Pro409Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 16086050: 16086050
24 MYCN NM_005378.5(MYCN): c.1226C> T (p.Pro409Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 15945928: 15945928
25 HUWE1 NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 53596615: 53596615
26 HUWE1 NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 53569655: 53569655
27 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 61)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.98 GATA4 GATA5 GATA6 ZFPM2
2 in utero embryonic development GO:0001701 9.98 CITED2 GATA6 NODAL NR2F2 ZFPM2
3 positive regulation of angiogenesis GO:0045766 9.97 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 BMP signaling pathway GO:0030509 9.89 GDF1 NKX2-5 NODAL
8 lung development GO:0030324 9.89 NODAL TBX5 ZFPM2
9 liver development GO:0001889 9.88 CITED2 GATA6 NODAL
10 cell fate commitment GO:0045165 9.87 GATA4 GATA5 GATA6 NODAL
11 vasculogenesis GO:0001570 9.86 CITED2 NKX2-5 ZFPM2
12 outflow tract morphogenesis GO:0003151 9.85 CITED2 ISL1 NKX2-5
13 heart looping GO:0001947 9.85 CITED2 GATA4 NKX2-5 NODAL
14 positive regulation of cardiac muscle cell proliferation GO:0060045 9.84 GATA6 TBX5 ZFPM2
15 ventricular septum morphogenesis GO:0060412 9.82 CITED2 NKX2-5 ZFPM2
16 ventricular septum development GO:0003281 9.81 CITED2 GATA4 TBX5
17 tissue development GO:0009888 9.8 GATA4 GATA5 GATA6
18 positive regulation of vascular endothelial growth factor production GO:0010575 9.8 GATA4 ISL1 NODAL
19 digestive tract development GO:0048565 9.8 GATA4 GATA5 GATA6 NKX2-6
20 cardiac muscle tissue development GO:0048738 9.79 GATA6 NKX2-5 ZFPM2
21 embryonic heart tube development GO:0035050 9.78 NKX2-5 NKX2-6 NODAL
22 pharyngeal system development GO:0060037 9.77 ISL1 NKX2-5 NKX2-6
23 embryonic placenta development GO:0001892 9.73 CITED2 NODAL
24 negative regulation of cardiac muscle cell proliferation GO:0060044 9.73 CITED2 TBX5
25 cardiac right ventricle morphogenesis GO:0003215 9.73 GATA4 ISL1 JAG1
26 cardiac muscle cell differentiation GO:0055007 9.73 GATA4 GATA6 NKX2-5 TBX5
27 trophectodermal cell differentiation GO:0001829 9.72 CITED2 NODAL
28 adult heart development GO:0007512 9.72 MYH7 NKX2-5
29 cardiac muscle hypertrophy in response to stress GO:0014898 9.71 GATA6 MYH7
30 positive regulation of cell-cell adhesion GO:0022409 9.71 CITED2 NODAL
31 endocardial cushion development GO:0003197 9.71 CITED2 GATA4 TBX5
32 outflow tract septum morphogenesis GO:0003148 9.71 GATA6 ISL1 NKX2-5 ZFPM2
33 ventricular cardiac muscle cell development GO:0055015 9.7 NKX2-5 NKX2-6
34 cardiac septum morphogenesis GO:0060411 9.7 CITED2 JAG1
35 maternal placenta development GO:0001893 9.7 NODAL NR2F2
36 cardiac ventricle morphogenesis GO:0003208 9.7 GATA4 NKX2-5
37 pericardium development GO:0060039 9.69 NKX2-6 TBX5
38 positive regulation of male gonad development GO:2000020 9.69 CITED2 ZFPM2
39 embryonic process involved in female pregnancy GO:0060136 9.68 CITED2 NODAL
40 pulmonary artery morphogenesis GO:0061156 9.68 CITED2 JAG1
41 embryonic heart tube left/right pattern formation GO:0060971 9.67 CITED2 NKX2-5
42 anatomical structure formation involved in morphogenesis GO:0048646 9.67 GATA4 GATA5 GATA6 NODAL
43 atrial cardiac muscle cell development GO:0055014 9.65 NKX2-5 NKX2-6
44 bundle of His development GO:0003166 9.65 NKX2-5 TBX5
45 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.65 CITED2 NODAL
46 intestinal epithelial cell differentiation GO:0060575 9.65 GATA4 GATA5 GATA6
47 cell development GO:0048468 9.65 GATA4 GATA5 GATA6 GDF1 NODAL
48 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.62 NKX2-5 ZFPM2
49 atrial septum morphogenesis GO:0060413 9.46 GATA4 ISL1 NKX2-5 TBX5
50 heart development GO:0007507 9.36 BCOR CITED2 GATA4 GATA5 GATA6 ISL1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 9.85 BCOR GATA4 GATA5 GATA6 NKX2-5
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.83 BCOR GATA4 GATA5 GATA6
3 transcription corepressor activity GO:0003714 9.8 BCOR CITED2 NR2F2 ZFPM2
4 chromatin binding GO:0003682 9.8 CITED2 GATA4 GATA5 GATA6 ISL1 NKX2-5
5 transcription factor binding GO:0008134 9.73 BCOR GATA4 GATA6 NKX2-5 TBX5 ZFPM2
6 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.69 GATA5 GATA6 NKX2-5
7 enhancer sequence-specific DNA binding GO:0001158 9.58 GATA4 GATA5 ISL1
8 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.55 GATA4 GATA5 GATA6 NKX2-5 TBX5
9 RNA polymerase II transcription factor binding GO:0001085 9.26 GATA4 GATA5 GATA6 ZFPM2
10 sequence-specific DNA binding GO:0043565 9.23 GATA4 GATA5 GATA6 ISL1 NKX2-5 NKX2-6
11 DNA binding GO:0003677 10.13 GATA4 GATA5 GATA6 ISL1 NKX2-5 NKX2-6
12 DNA binding transcription factor activity GO:0003700 10.03 CITED2 GATA4 GATA5 GATA6 NKX2-5 NKX2-6
13 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 10.02 GATA4 GATA5 GATA6 ISL1 NKX2-5 NKX2-6

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
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37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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