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 74 36 29 6 15 32
Ventricular Septal Defects 52 54 15
Heart Septal Defects, Ventricular 52 43
Interventricular Septal Defect 12
Ventricular Septal Abnormality 12
Septal, Ventricular Defect 39

Classifications:



External Ids:

Disease Ontology 12 DOID:1657
KEGG 36 H01926
ICD9CM 34 745.4
MeSH 43 D006345
NCIt 49 C84506
SNOMED-CT 67 30288003
ICD10 32 Q21.0
UMLS 71 C0018818

Summaries for Ventricular Septal Defect

KEGG : 36 Ventricular septal defect (VSD) is the most common type of cardiovascular developmental anomaly and is an important risk factor for the substantially increased morbidity and mortality in newborns. Congenital heart disease (CHD) is divided into more than 30 subtypes based on the cardiac or vascular abnormalities, of which VSD, atrial septal defect (ASD) [DS:H00546], tetralogy of Fallot (TOF) [DS:H00549], and Holt-Oram syndrome (HOS) [DS:H00433] are clinically the most common. VSDs can exist in isolation, can be complicated by additional intracardiac lesions, or can be part of more complex combinations, such as TOF, double outlet right ventricle [DS:H00918], or functionally univentricular hearts [DS:H01787]. Congenital VSDs arise from perturbations of cardiac development during embryogenesis and both environmental and genetic risk factors have been implicated in VSDs. Growing evidence highlights the key role of several transcription factors, including GATA4, in septogenesis.

MalaCards based summary : Ventricular Septal Defect, also known as ventricular septal defects, is related to conotruncal heart malformations and eisenmenger syndrome. An important gene associated with Ventricular Septal Defect is TBX5 (T-Box Transcription Factor 5), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Human Embryonic Stem Cell Pluripotency. The drugs Respiratory System Agents and Albuterol have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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

Wikipedia : 74 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 502)
# Related Disease Score Top Affiliating Genes
1 conotruncal heart malformations 33.6 ZFPM2 NKX2-5 GDF1 GATA6
2 eisenmenger syndrome 33.4 NKX2-5 GATA4 CITED2
3 tricuspid atresia 33.4 ZIC3 ZFPM2 TBX5 NKX2-5 HAND2 GATA6
4 holt-oram syndrome 33.4 TBX5 NKX2-5 MYH7 HAND2 GATA6 GATA4
5 tetralogy of fallot 33.4 ZIC3 ZFPM2 TBX5 NR2F2 NPPB NOTCH1
6 congenitally corrected transposition of the great arteries 33.3 NPPB NODAL
7 right atrial isomerism 33.2 ZIC3 TBX5 NODAL NKX2-5 GDF1 CITED2
8 double outlet right ventricle 33.1 ZIC3 ZFPM2 TBX5 NOTCH1 NODAL NKX2-5
9 heart septal defect 32.7 ZIC3 ZFPM2 TBX5 NOTCH1 NODAL NKX2-5
10 aortic valve insufficiency 32.5 ZIC3 NPPB GATA5
11 dextro-looped transposition of the great arteries 32.3 ZIC3 TBX5 NPPB NODAL NKX2-5 GDF1
12 atrioventricular block 32.3 TBX5 NPPB NKX2-5 MYH7 GATA4
13 mitral valve insufficiency 32.0 ZIC3 TBX5 NPPB
14 patent ductus arteriosus 1 31.9 ZIC3 TBX5 NPPB NOTCH1 NKX2-5 JAG1
15 pulmonary valve stenosis 31.8 TBX5 NKX2-5 JAG1 GATA4
16 pulmonic stenosis 31.8 ZIC3 NR2F2 JAG1 GATA5 GATA4 BRAF
17 dextrocardia 31.8 ZIC3 NODAL MYH7
18 aortic valve disease 1 31.4 TBX5 NOTCH1 NKX2-5 JAG1 ISL1 GATA6
19 atrial standstill 1 31.4 NPPB MYH7 GATA4
20 patent foramen ovale 31.4 ZIC3 TBX5 NPPB NKX2-5 HAND2 GATA6
21 atrial heart septal defect 31.3 ZIC3 ZFPM2 TBX5 NPPB NOTCH1 NODAL
22 aortic valve disease 2 31.2 TBX5 NPPB NOTCH1 NKX2-5 MYH7 GATA4
23 atrioventricular septal defect 31.1 ZIC3 ZFPM2 TBX5 NR2F2 NODAL NKX2-5
24 total anomalous pulmonary venous return 1 31.1 ZIC3 TBX5 NODAL NKX2-5 GATA4
25 hypertrophic cardiomyopathy 31.1 NPPB NKX2-5 MYH7 GATA4 BRAF
26 dextrocardia with situs inversus 31.0 NODAL CITED2
27 digeorge syndrome 31.0 TBX5 NOTCH1 NKX2-5 ISL1 HAND2 GATA4
28 left ventricular noncompaction 30.9 ZIC3 TBX5 NOTCH1 NKX2-5 MYH7 JAG1
29 wolff-parkinson-white syndrome 30.9 TBX5 NPPB NKX2-5 MYH7 JAG1
30 ebstein anomaly 30.9 ZIC3 ZFPM2 TBX5 NPPB NODAL NKX2-5
31 complete atrioventricular septal defect with ventricular hypoplasia 30.8 NR2F2 GATA6 GATA4
32 jacobsen syndrome 30.7 TBX5 NKX2-5 GATA4
33 diaphragmatic hernia, congenital 30.7 ZFPM2 TBX5 NR2F2 GATA6 GATA4
34 constrictive pericarditis 30.7 ZIC3 NPPB
35 dilated cardiomyopathy 30.6 TBX5 NPPB NKX2-5 MYH7 ISL1 HAND2
36 heart disease 30.5 ZIC3 TBX5 NPPB NOTCH1 NODAL NKX2-5
37 restrictive cardiomyopathy 30.5 ZIC3 NPPB MYH7
38 hypoplastic left heart syndrome 30.2 ZIC3 ZFPM2 TBX5 NPPB NOTCH1 NODAL
39 pulmonary atresia with ventricular septal defect 12.9
40 ventricular septal defect 2 12.9
41 ventricular septal defect 3 12.9
42 ventricular septal defect 1 12.9
43 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 12.5
44 double outlet right ventricle with subaortic or doubly committed ventricular septal defect 12.4
45 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 12.4
46 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 12.4
47 laubry-pezzi syndrome 12.0
48 ritscher-schinzel syndrome 1 11.8
49 aortic arch interruption 11.7
50 subvalvular aortic stenosis 11.7

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 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 9.7 NODAL
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.7 CITED2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-114 9.7 GATA6
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.7 TBX5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.7 NOTCH1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.7 TBX5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.7 GATA6
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-189 9.7 NODAL
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-199 9.7 TBX5
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.7 CITED2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-202 9.7 NODAL
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-205 9.7 NOTCH1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.7 TBX5
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.7 NOTCH1 TBX5
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.7 GATA6
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.7 GATA6
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.7 GATA6
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.7 CITED2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.7 NOTCH1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.7 NOTCH1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.7 GATA6
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.7 NOTCH1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.7 TBX5

MGI Mouse Phenotypes related to Ventricular Septal Defect:

45 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.54 BRAF CITED2 GATA4 GATA5 GATA6 GDF1
2 embryo MP:0005380 10.43 BRAF CITED2 GATA4 GATA6 GDF1 HAND2
3 cellular MP:0005384 10.42 BRAF GATA4 GATA5 GATA6 GDF1 HAND2
4 growth/size/body region MP:0005378 10.41 BRAF CITED2 GATA4 GATA6 GDF1 HAND2
5 homeostasis/metabolism MP:0005376 10.41 BRAF CITED2 GATA4 GATA5 GATA6 HAND2
6 mortality/aging MP:0010768 10.41 BRAF CITED2 GATA4 GATA5 GATA6 GDF1
7 digestive/alimentary MP:0005381 10.4 BRAF CITED2 GATA4 GATA5 GDF1 HAND2
8 endocrine/exocrine gland MP:0005379 10.35 BRAF CITED2 GATA4 GATA5 GDF1 HAND2
9 craniofacial MP:0005382 10.3 BRAF CITED2 GDF1 HAND2 ISL1 JAG1
10 muscle MP:0005369 10.3 BRAF GATA4 GATA5 GATA6 HAND2 ISL1
11 hematopoietic system MP:0005397 10.29 BRAF CITED2 GATA4 GATA6 GDF1 HAND2
12 immune system MP:0005387 10.26 BRAF CITED2 GATA5 GDF1 HAND2 ISL1
13 normal MP:0002873 10.24 BRAF CITED2 GATA4 GATA6 GDF1 HAND2
14 nervous system MP:0003631 10.21 BRAF CITED2 GATA4 GDF1 HAND2 ISL1
15 liver/biliary system MP:0005370 10.19 BRAF GATA4 GATA6 GDF1 HAND2 JAG1
16 limbs/digits/tail MP:0005371 10.11 BRAF CITED2 GATA4 GATA6 HAND2 ISL1
17 no phenotypic analysis MP:0003012 10.06 GATA4 HAND2 ISL1 JAG1 MYH7 NKX2-5
18 hearing/vestibular/ear MP:0005377 10.03 BRAF HAND2 ISL1 JAG1 NOTCH1 ZIC3
19 reproductive system MP:0005389 9.91 BRAF GATA4 GATA5 GATA6 ISL1 NODAL
20 renal/urinary system MP:0005367 9.87 BRAF CITED2 GATA5 GDF1 ISL1 JAG1
21 respiratory system MP:0005388 9.85 BRAF CITED2 GATA4 GATA6 GDF1 NKX2-5
22 skeleton MP:0005390 9.73 BRAF CITED2 GATA4 GATA5 GDF1 HAND2
23 vision/eye MP:0005391 9.23 BRAF CITED2 ISL1 JAG1 NODAL NOTCH1

Drugs & Therapeutics for Ventricular Septal Defect

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

(show top 50) (show all 88)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Respiratory System Agents Phase 4
2 Albuterol Phase 4
3 Anti-Asthmatic Agents Phase 4
4 Bronchodilator Agents Phase 4
5 Tocolytic Agents Phase 4
6
tannic acid Approved Phase 3 1401-55-4
7
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
8
Streptokinase Approved, Investigational Phase 3 9002-01-1
9
Titanium dioxide Approved Phase 3 13463-67-7
10
Povidone Approved Phase 3 9003-39-8
11
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
12
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
13
Enalaprilat Approved Phase 3 76420-72-9 6917719
14
Dobutamine Approved Phase 3 34368-04-2 36811
15 Pharmaceutical Solutions Phase 3
16 Analgesics Phase 3
17 Analgesics, Non-Narcotic Phase 3
18 Platelet Aggregation Inhibitors Phase 3
19 Fibrinolytic Agents Phase 3
20 Antipyretics Phase 3
21 Cyclooxygenase Inhibitors Phase 3
22 Anti-Inflammatory Agents Phase 3
23
Triacetin Phase 3 102-76-1 5541
24
Ethyl cellulose Phase 3 9004-57-3 24832091
25 Antirheumatic Agents Phase 3
26 Anti-Inflammatory Agents, Non-Steroidal Phase 3
27 Neurotransmitter Agents Phase 3
28 Adrenergic Agents Phase 3
29 Adrenergic Agonists Phase 3
30 Adrenergic beta-Agonists Phase 3
31 Antihypertensive Agents Phase 3
32
protease inhibitors Phase 3
33 Angiotensin-Converting Enzyme Inhibitors Phase 3
34 HIV Protease Inhibitors Phase 3
35 Cardiotonic Agents Phase 3
36 Protective Agents Phase 3
37 Sympathomimetics Phase 3
38
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
39
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 5311068 68602
40
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
41
Sodium citrate Approved, Investigational Phase 2 68-04-2
42
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
43
Tadalafil Approved, Investigational Phase 2 171596-29-5 110635
44
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
45 Narcotics Phase 2
46 Anesthetics, General Phase 2
47 Anesthetics Phase 2
48 Analgesics, Opioid Phase 2
49 Anesthetics, Intravenous Phase 2
50 Excitatory Amino Acid Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 81)
# Name Status NCT ID Phase Drugs
1 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Ventrucular Septal Defect Patients With Persistant or Surgically Corrected Conditions - The VENTI Trial Completed NCT02914652 Phase 4 Salbutamol;Norflouran (Placebo Evohaler(R) )
2 A Randomized Controlled Trial of Minimally Invasive Transthoracic Device Closure in the Treatment of Patients With 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 Phase III Single-Blind, Randomized, Placebo Controlled, Clinical Trial to Determine the Safety and Efficacy of Intravenous L-Citrulline Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT00335244 Phase 3 L-citrulline;Placebo of intravenous L-citrulline
5 A Phase III Double-Blind, Randomized, Placebo Controlled, Multi-Center Clinical Study to Evaluate the Efficacy and Safety of Intravenous L-citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Subjects Undergoing Surgery for Congenital Heart Defects Completed NCT02891837 Phase 3 L-citrulline
6 A Prospective Phase III Parallel, Randomised Controlled Trial Using Double-bolus Recombinant Staphylokinase (THR-100) vs Streptokinase in Patients With Acute Myocardial Infarction Completed NCT01305226 Phase 3 THR-100;Streptokinase
7 Investigating the Role of Early Low-dose Aspirin in Diabetes: A Phase III Multicentre Double-blinded Placebo-controlled Randomised Trial of Low-dose Aspirin Initiated in the First Trimester of Diabetes Pregnancy Not yet recruiting NCT03574909 Phase 3 Aspirin;Placebos
8 Trial of ACE Inhibition in Children With Mitral Regurgitation After Repair of AVSD Terminated NCT00113698 Phase 3 Enalapril
9 Cardiac Imaging Under Exercise Stress Test for Early Assessment of Right Ventricular Function in Patients With Tetralogy of Fallot and Pulmonary Regurgitation Terminated NCT00564993 Phase 3 Dobutamin
10 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
11 Phase IB Double Blind, Randomized, Placebo Controlled Clinical Trial to Determine the Pharmacokinetics and Safety of a Revised Protocol of Intravenous L-Citrulline (Citrupress®) Versus Placebo in Children Undergoing Cardiopulmonary Bypass Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
12 The Use of Hypertonic Saline Dextran in Cardiac Surgery Utilizing Cardio Pulmonary Bypass in Children Less Than 17 Weeks Old. Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
13 Stress Response in Children Undergoing Cardiac Surgery: a Prospective Randomized Comparison Between Low Dose Fentanyl (LDF), Low Dose Fentanyl Plus Dexmedetomidine (LDF + Dex) and High Dose Fentanyl (HDF). Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
14 Effects of Adding Oral Sildenafil to Intravenous Milrinone on Postoperative Pulmonary Hypertension in Pediatric Undergoing Repair of Ventricular Septal Defect Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
15 Phase I/II Clinical Trial to Determine the Pharmacokinetics and Safety Profile of Citrulline in Children Undergoing Cardiopulmonary Bypass Completed NCT00201214 Phase 1, Phase 2 Citrulline
16 Clinical Efficacy of Phosphodiesterase-5 Inhibitor Tadalafil in Eisenmenger Syndrome - A Randomised, Placebo Controlled, Double Blind, Crossover Study Completed NCT01200732 Phase 2 Tadalafil, placebo
17 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Recruiting NCT04017975 Phase 2 Fluorescite
18 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
19 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
20 Prevention of Myopia of Prematurity by Calcium Supplementation in a Randomized Controlled Pilot Trial Completed NCT00892476 Phase 1
21 Phase 1 Study of the Safety and Pharmacokinetics of Perioperative IV L-carnitine Administration in Patients With Congenital Heart Disease With Increased Pulmonary Blood Flow Withdrawn NCT01825369 Phase 1 IV L-carnitine
22 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
23 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
24 Changes in Ventricular Remodeling and Exercise Cardiopulmonary Function After Transcatheter Closure of Ventricular Septal Defect Unknown status NCT03127748
25 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG) Unknown status NCT02503267
26 Multicenter Registry Study of Surgery and Transcatheter Intervention for Structural Heart Diseases Unknown status NCT02917980
27 Molecular Basis of Congenital Heart Defects Unknown status NCT00579358
28 Clinical Evaluation of Transcatheter Closure and Surgery of Perimembranous Ventricular Septal Defects Completed NCT00890799
29 Precision Assessment of Perioperative Effectiveness and Safety of Transthoracic Minimally Invasive Hybrid Closure for Pediatric Ventricular Septal Defects Completed NCT02794584 sufentanil anesthesia
30 TEE-guided Perventricular Device Closure Through Minithoracotomy vs Traditional Surgery Repair Via CBP in Treatment of Infundibular Ventricular Septal Defect:A Two-center Clinical Randomized Controlled Trial Completed NCT02361008
31 Closure of Muscular Ventricular Septal Defects With The AMPLATZER™ Muscular VSD Occluder Completed NCT00583791
32 International Multicentre Clinical Device Investigation on Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System for VSD Occlusion Developed by Pfm AG, Cologne Completed NCT00390702
33 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832
34 Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect Completed NCT02861963
35 Cardiac Output During Exercise in Young Adults Operated for Ventricular Septal Defect as Children Completed NCT02138435
36 Postoperative Right Bundle Branch Block - Long-term Effect on the Right Ventricle in Children Operated for Ventricular Septal Defect Completed NCT01480908
37 Ad Hoc Analysis for the Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With a Closed Ventricular Septal Defect Completed NCT02648984
38 Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up. Completed NCT02552485
39 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
40 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
41 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
42 Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect Completed NCT03684161
43 Cardiac Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patient With Shunt or Patients With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT02449083
44 Family Study of Congenital Cardiovascular Malformations Completed NCT00005258
45 Non-invasive Imaging and Exercise Tolerance Tests in Post-repair Tetralogy of Fallot - Intervention and Course in Patients Over 8 Years Old Completed NCT00266188
46 Oxygen Saturation and Perfusion Index Screening ın Neonates at High Altitude Completed NCT04290481
47 Evaluation of the Usefulness of Imaging Methods and 3D Reconstruction in Percutaneous Closure Procedures of Paravalvular Leak (Clinical Trial). Completed NCT03371472
48 SPY Imaging System: Its Role in Pediatric Cardiac Surgery Completed NCT00446927
49 Follow up of Adults With Congenitally Malformed Hearts With Focus on Computer-Based Education and Psychosocial Support Completed NCT01234753
50 Bupropion and Cardiac Birth Defects (Slone Epidemiology Center) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester

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:

40
Heart, Lung, Testes, Brain, Liver, Skin, Endothelial

Publications for Ventricular Septal Defect

Articles related to Ventricular Septal Defect:

(show top 50) (show all 12854)
# Title Authors PMID Year
1
Familial transposition of the great arteries caused by multiple mutations in laterality genes. 61 54
19933292 2010
2
GATA4 mutations in Chinese patients with congenital cardiac septal defects. 54 61
19915893 2010
3
B-type natriuretic peptide and heart failure in patients with ventricular septal defect: a pilot study. 61 54
19636481 2009
4
[Novel NKX2-5 mutations identified in patients with congenital ventricular septal defects]. 61 54
20137692 2009
5
GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease. 61 54
19302747 2009
6
Association of TBX5 gene polymorphism with ventricular septal defect in the Chinese Han population. 54 61
19187613 2009
7
Noninvasive estimation of left ventricular end-diastolic pressure using tissue Doppler imaging combined with pulsed-wave Doppler echocardiography in patients with ventricular septal defects: a comparison with the plasma levels of the B-type natriuretic Peptide. 54 61
18307440 2008
8
Paradoxical relationship between B-type natriuretic peptide and pulmonary vascular resistance in patients with ventricular septal defect and concomitant severe pulmonary hypertension. 54 61
17786380 2008
9
Brain natriuretic peptide levels before and after ventricular septal defect repair. 54 61
18036937 2007
10
Plasma brain natriuretic peptide and systemic ventricular function in asymptomatic patients late after the Fontan procedure. 61 54
18043998 2007
11
Correlation of plasma B-type natriuretic peptide with shunt severity in patients with atrial or ventricular septal defect. 54 61
17530321 2007
12
Relationship between pericardial fluid B-type natriuretic peptide and ventricular structure and function. 54 61
17350484 2007
13
Clinical signs of heart failure are associated with increased levels of natriuretic peptide types B and A in children with congenital heart defects or cardiomyopathy. 54 61
15124836 2004
14
Clinical implication of plasma natriuretic peptides in children with ventricular septal defect. 54 61
12828576 2003
15
Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice. 61 54
12372254 2002
16
The Pediatric Heart Network Residual Lesion Score Study: Design and objectives. 61
31870553 2020
17
Repair of Chronic Ventricular Septal Defect. 61
31926155 2020
18
Is a Fetal Echocardiography Necessary in IVF-ICSI Pregnancies After Anatomic Survey? 61
32343439 2020
19
First Successful Open-Heart Surgery Utilizing Cross-Circulation in 1954. 61
31958424 2020
20
Twenty-Three-Year Experience With the Arterial Switch Operation: Expectations and Long-Term Outcomes. 61
31958553 2020
21
Twenty Years of Repair of Ventricular Septal Defects in Ghana. 61
32476123 2020
22
Use of Lifetech™ Konar-MF, a device for both perimembranous and muscular ventricular septal defects: A multicentre study. 61
32122701 2020
23
More than 3 decades quest for the ideal device to close ventricular septal defects. 61
32331907 2020
24
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype. 61
32323311 2020
25
Adult Congenital Heart Disease Outpatient Clinic. Descriptive Analysis of A 12-Year Experience in Brazil. 61
32549096 2020
26
SHROOM3 is downstream of the planar cell polarity pathway and loss-of-function results in congenital heart defects. 61
32511952 2020
27
Right ventricular outflow tract obstruction caused by a right coronary cusp prolapse: An unusual finding. 61
32574403 2020
28
His Bundle and Left Bundle Pacing in Pediatrics and Congenital Heart Disease: A Single Center Experience. 61
32567011 2020
29
Distinguishing Septal Heart Defects from the Valvular Regurgitation Using Intelligent Phonocardiography. 61
32570370 2020
30
Epicardial blebs and septal hematoma after ventricular septal defect closure. 61
32539424 2020
31
Pulmonary Function in Older Patients With Ventricular Septal Defect. 61
32291090 2020
32
Dextrocardia, situs solitus, inlet ventricular septal defect (VSD), and iatrogenic tricuspid regurgitation (TR)-A surgical perspective. 61
32349171 2020
33
Commentary: Another technique for biventricular repair of double-outlet right ventricle with noncommitted ventricular septal defect. 61
31590951 2020
34
Patch aneurysm following closure of ventricular septal defect: a rare differential of left ventricular outflow obstruction. 61
30950762 2020
35
Percutaneous Puncture Closure of Postoperative Residual Ventricular Septal Defects Without Radiation. 61
32035048 2020
36
Device closure of a traumatic VSD in a young man with a history of a stab wound to the chest. 61
32547656 2020
37
Post-Left Atrium Space Index in Fetuses With Total Anomalous Pulmonary Venous Connection and Other Congenital Heart Diseases. 61
32491276 2020
38
The Natural and Unnatural History of Ventricular Septal Defects Presenting in Infancy: An Echocardiography-Based Review. 61
32249125 2020
39
Late Period Rastelli Take-Down and Arterial Switch Operation After Rastelli Operation: An Adult Case. 61
32504598 2020
40
Acquired ventricular septal defect following surgery for aortic valve endocarditis. 61
32554449 2020
41
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Variations for Ventricular Septal Defect

ClinVar genetic disease variations for Ventricular Septal Defect:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBX5 NM_000192.3(TBX5):c.1221C>G (p.Tyr407Ter)SNV Pathogenic 495227 rs1555223259 12:114793673-114793673 12:114355868-114355868
2 subset of 34 genes: MAGEL2 , SNURF , UBE3A complex Pathogenic 638670 15:22676913-30137106
3 BCR , GGTLC2 , GNAZ , IGLC1 , IGLL5 , RAB36 , RSPH14 GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138)copy number loss Pathogenic 638672 22:22971867-23643138
4 46;XY;t(5;7)(q35;q33)dnTranslocation Pathogenic 268041
5 BRAF NM_001374258.1(BRAF):c.1622A>G (p.Glu541Gly)SNV Pathogenic/Likely pathogenic 13978 rs180177039 7:140477806-140477806 7:140778006-140778006
6 FOXF1 NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)SNV Likely pathogenic 374061 rs1057518868 16:86544455-86544455 16:86510849-86510849
7 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)SNV Likely pathogenic 374121 rs1057518914 X:20211665-20211665 X:20193547-20193547
8 covers 61 genes, none of which curated to show dosage sensitivity GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)deletion Likely pathogenic 208506 14:73152115-77698582
9 FOXP4 NM_138457.3(FOXP4):c.812del (p.Leu271fs)deletion Likely pathogenic 242887 rs1114167294 6:41555193-41555193 6:41587455-41587455
10 AAR2 NM_001271874.2(AAR2):c.520G>A (p.Val174Met)SNV Likely pathogenic 242897 rs746800707 20:34828310-34828310 20:36240388-36240388
11 46;XY;t(16;20)(q11.2;q13.2)dnTranslocation Uncertain significance 267820
12 46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dncomplex Uncertain significance 267835
13 46;XY;t(1;3)(p22;q21)dnTranslocation Uncertain significance 267862
14 46;XY;t(2;13)(p25.2;q31.3)dnTranslocation Uncertain significance 267864
15 46;XY;t(6;20)(p12;q13.1)dnTranslocation Uncertain significance 267920
16 46;XY;inv(9)(p24q12)inversion Uncertain significance 267988
17 MYCN NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu)SNV Uncertain significance 523483 rs1553371013 2:16086050-16086050 2:15945928-15945928
18 HUWE1 NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro)SNV Uncertain significance 523539 rs1556948950 X:53596615-53596615 X:53569655-53569655
19 FLVCR2 GRCh37/hg19 14q24.3(chr14:76105695-76107636)copy number loss Uncertain significance 523310 14:76105695-76107636
20 OBSL1 NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)SNV Uncertain significance 598982 rs560246798 2:220423067-220423067 2:219558345-219558345
21 OBSL1 NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)SNV Uncertain significance 598981 rs749541061 2:220424193-220424193 2:219559471-219559471
22 GATA4 NM_002052.5(GATA4):c.94G>C (p.Ala32Pro)SNV Uncertain significance 599008 rs773545065 8:11565915-11565915 8:11708406-11708406
23 ERF NM_006494.4(ERF):c.1636C>T (p.Arg546Ter)SNV Uncertain significance 599007 rs764412749 19:42752628-42752628 19:42248476-42248476
24 FLNA NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)SNV Uncertain significance 617640 rs781928289 X:153588145-153588145 X:154359777-154359777
25 RYR1 NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)SNV Uncertain significance 133221 rs193922829 19:38995701-38995701 19:38505061-38505061
26 LRP1 NM_002332.3(LRP1):c.1576C>G (p.Leu526Val)SNV Uncertain significance 816915 12:57552199-57552199 12:57158416-57158416
27 LRP1 NM_002332.3(LRP1):c.13559C>G (p.Ser4520Cys)SNV Uncertain significance 816916 12:57606262-57606262 12:57212479-57212479
28 ALDH1A3 , ASB7 , CERS3 , LINS1 , LRRK1 GRCh37/hg19 15q26.3(chr15:100923767-101626187)copy number loss Uncertain significance 638671 15:100923767-101626187
29 SMARCA4 NM_001128849.2(SMARCA4):c.1358C>T (p.Thr453Ile)SNV Likely benign 374051 rs1057518862 19:11101938-11101938 19:10991262-10991262

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 nucleus GO:0005634 9.8 ZIC3 ZFPM2 TBX5 NR2F2 NPPB NOTCH1
2 nuclear chromatin GO:0000790 9.28 ZFPM2 TBX5 NKX2-5 ISL1 HAND2 GATA6

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

(show top 50) (show all 82)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.3 TBX5 NR2F2 NOTCH1 NKX2-5 ISL1 HAND2
2 multicellular organism development GO:0007275 10.26 ZIC3 TBX5 NOTCH1 NODAL NKX2-5 JAG1
3 regulation of transcription by RNA polymerase II GO:0006357 10.23 ZIC3 ZFPM2 NR2F2 NOTCH1 NKX2-5 HAND2
4 cell differentiation GO:0030154 10.21 ZIC3 ZFPM2 NR2F2 NOTCH1 NKX2-5 ISL1
5 negative regulation of transcription, DNA-templated GO:0045892 10.17 ZFPM2 NR2F2 NOTCH1 NKX2-5 GATA6 CITED2
6 negative regulation of transcription by RNA polymerase II GO:0000122 10.16 ZFPM2 TBX5 NR2F2 NOTCH1 NODAL NKX2-5
7 negative regulation of apoptotic process GO:0043066 10.13 NKX2-5 HAND2 GATA6 CITED2 BRAF
8 positive regulation of gene expression GO:0010628 10.13 NOTCH1 NKX2-5 HAND2 GATA5 CITED2 BRAF
9 negative regulation of gene expression GO:0010629 10.05 NOTCH1 HAND2 GATA5 CITED2
10 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.04 NOTCH1 NODAL HAND2 GATA4 BRAF
11 blood coagulation GO:0007596 10.01 ZFPM2 GATA6 GATA5 GATA4
12 positive regulation of angiogenesis GO:0045766 10 NODAL ISL1 GATA6 GATA4
13 in utero embryonic development GO:0001701 10 ZFPM2 NR2F2 NOTCH1 NODAL HAND2 GATA6
14 lung development GO:0030324 9.95 ZIC3 ZFPM2 TBX5 NOTCH1 NODAL
15 anterior/posterior pattern specification GO:0009952 9.94 ZIC3 NR2F2 NODAL
16 liver development GO:0001889 9.94 NOTCH1 NODAL GATA6 CITED2
17 determination of left/right symmetry GO:0007368 9.93 ZIC3 NOTCH1 NODAL CITED2
18 male gonad development GO:0008584 9.92 GATA6 GATA4 CITED2
19 outflow tract morphogenesis GO:0003151 9.91 NOTCH1 NKX2-5 ISL1 CITED2
20 vasculogenesis GO:0001570 9.9 ZFPM2 NKX2-5 CITED2
21 positive regulation of transcription, DNA-templated GO:0045893 9.9 ZIC3 ZFPM2 TBX5 NR2F2 NOTCH1 NKX2-5
22 negative regulation of neuron differentiation GO:0045665 9.89 NOTCH1 JAG1 ISL1
23 negative regulation of cell differentiation GO:0045596 9.89 NOTCH1 NODAL JAG1
24 heart morphogenesis GO:0003007 9.88 NKX2-5 ISL1 HAND2
25 thymus development GO:0048538 9.88 HAND2 CITED2 BRAF
26 ventricular septum morphogenesis GO:0060412 9.88 ZFPM2 NOTCH1 NKX2-5 CITED2
27 cell fate commitment GO:0045165 9.88 NOTCH1 NODAL GATA6 GATA5 GATA4
28 positive regulation of cardiac muscle cell proliferation GO:0060045 9.87 ZFPM2 TBX5 NOTCH1 GATA6
29 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.86 NKX2-5 HAND2 GATA4
30 ventricular septum development GO:0003281 9.86 TBX5 GATA4 CITED2
31 heart development GO:0007507 9.86 ZFPM2 TBX5 NOTCH1 NODAL NKX2-5 ISL1
32 endoderm development GO:0007492 9.84 NOTCH1 NODAL GATA4
33 aortic valve morphogenesis GO:0003180 9.84 NOTCH1 JAG1 GATA5 GATA4
34 positive regulation of vascular endothelial growth factor production GO:0010575 9.83 NODAL ISL1 GATA4
35 outflow tract septum morphogenesis GO:0003148 9.83 ZFPM2 NKX2-5 ISL1 GATA6
36 cardiac septum morphogenesis GO:0060411 9.8 NOTCH1 JAG1 CITED2
37 adult heart development GO:0007512 9.8 NKX2-5 MYH7 HAND2
38 cardiac muscle cell differentiation GO:0055007 9.8 TBX5 NKX2-5 GATA6 GATA4
39 cardiac right ventricle morphogenesis GO:0003215 9.79 JAG1 ISL1 GATA4
40 cardiac ventricle morphogenesis GO:0003208 9.77 NOTCH1 NKX2-5 GATA4
41 positive regulation of transcription by RNA polymerase II GO:0045944 9.77 ZIC3 ZFPM2 TBX5 NOTCH1 NODAL NKX2-5
42 embryonic heart tube development GO:0035050 9.76 NODAL NKX2-5
43 negative regulation of cardiac muscle hypertrophy GO:0010614 9.76 NOTCH1 GATA5
44 pharyngeal system development GO:0060037 9.76 NKX2-5 ISL1
45 intestinal epithelial cell differentiation GO:0060575 9.76 GATA6 GATA5 GATA4
46 positive regulation of cell-cell adhesion GO:0022409 9.75 NODAL CITED2
47 negative regulation of myotube differentiation GO:0010832 9.75 NOTCH1 NKX2-5
48 endocardial cushion morphogenesis GO:0003203 9.75 NOTCH1 ISL1
49 ventricular trabecula myocardium morphogenesis GO:0003222 9.75 NOTCH1 NKX2-5
50 negative regulation of stem cell differentiation GO:2000737 9.75 NOTCH1 JAG1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.13 ZIC3 ZFPM2 TBX5 NR2F2 NKX2-5 ISL1
2 DNA-binding transcription factor activity GO:0003700 9.97 ZIC3 TBX5 NR2F2 NOTCH1 NKX2-5 GATA6
3 chromatin binding GO:0003682 9.91 NOTCH1 NKX2-5 ISL1 GATA6 CITED2
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.88 ZIC3 TBX5 NR2F2 HAND2 GATA4
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.85 NKX2-5 HAND2 GATA6 GATA5 GATA4
6 transcription coactivator activity GO:0003713 9.84 ZFPM2 ISL1 GATA4 CITED2
7 transcription regulatory region DNA binding GO:0044212 9.8 NKX2-5 HAND2 GATA6 GATA5 GATA4
8 transcription factor binding GO:0008134 9.8 ZFPM2 TBX5 NKX2-5 HAND2 GATA6 GATA4
9 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 ZIC3 TBX5 NOTCH1 NKX2-5 ISL1 HAND2
10 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.76 ZIC3 TBX5 NOTCH1 NKX2-5 ISL1 GATA6
11 proximal promoter sequence-specific DNA binding GO:0000987 9.7 ISL1 GATA5 GATA4
12 RNA polymerase II activating transcription factor binding GO:0001102 9.67 TBX5 ISL1 CITED2
13 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.65 ZIC3 ZFPM2 TBX5 NR2F2 NKX2-5 ISL1
14 sequence-specific DNA binding GO:0043565 9.32 ZIC3 TBX5 NR2F2 NOTCH1 NKX2-5 ISL1

Sources for Ventricular Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 LOVD
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44 MESH via Orphanet
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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