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 cGMP-PKG signaling pathway and Mesodermal Commitment Pathway. The drugs Tocolytic Agents and Anti-Asthmatic Agents 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)

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 500)
# Related Disease Score Top Affiliating Genes
1 conotruncal heart malformations 33.6 ZFPM2 NKX2-5 GDF1 GATA6
2 eisenmenger syndrome 33.5 NKX2-5 GATA4 CITED2
3 tricuspid atresia 33.4 ZIC3 ZFPM2 TBX5 NKX2-5 HAND2 GATA4
4 holt-oram syndrome 33.3 TBX5 NPPA NKX2-5 MYH7 HAND2 GATA5
5 tetralogy of fallot 33.2 ZIC3 ZFPM2 TBX5 NPPB NPPA NOTCH1
6 right atrial isomerism 33.2 ZIC3 TBX5 NODAL NKX2-5 GDF1 CITED2
7 double outlet right ventricle 33.0 ZIC3 ZFPM2 TBX5 NOTCH1 NODAL NKX2-5
8 aortic valve insufficiency 32.6 ZIC3 NPPB GATA5
9 heart septal defect 32.5 ZIC3 ZFPM2 TBX5 NPPA NOTCH1 NKX2-5
10 dextro-looped transposition of the great arteries 32.3 ZIC3 TBX5 NPPB NODAL NKX2-5 GDF1
11 atrioventricular block 32.3 TBX5 NPPB NKX2-5 MYH7 GATA4
12 congestive heart failure 32.0 NPPB NPPA MYH7 GATA4
13 mitral valve insufficiency 32.0 TBX5 NPPB NPPA MYH7
14 pulmonic stenosis 31.9 JAG1 GATA5 BRAF
15 patent ductus arteriosus 1 31.9 ZIC3 TBX5 NPPB NOTCH1 NODAL NKX2-5
16 pulmonary valve stenosis 31.8 TBX5 NKX2-5 JAG1 GATA4
17 dextrocardia 31.8 ZIC3 NODAL MYH7
18 atrial standstill 1 31.6 NPPB NPPA MYH7 GATA4
19 patent foramen ovale 31.5 TBX5 NPPB NKX2-5 HAND2 GATA6 GATA5
20 aortic valve disease 1 31.4 TBX5 NOTCH1 NKX2-5 MYH7 JAG1 ISL1
21 respiratory failure 31.2 NPPB NPPA MYH7 GATA4
22 atrioventricular septal defect 31.2 ZIC3 ZFPM2 TBX5 NODAL NKX2-5 ISL1
23 atrial heart septal defect 31.2 ZIC3 ZFPM2 TBX5 NPPB NPPA NOTCH1
24 coronary artery anomaly 31.2 NPPB NPPA NKX2-5 GATA4
25 aortic valve disease 2 31.1 TBX5 NPPB NPPA NOTCH1 NKX2-5 MYH7
26 total anomalous pulmonary venous return 1 31.1 ZIC3 TBX5 NODAL NKX2-5 GATA4
27 left ventricular noncompaction 31.0 TBX5 NOTCH1 NKX2-5 MYH7 JAG1 GATA4
28 digeorge syndrome 31.0 TBX5 NOTCH1 NKX2-5 ISL1 HAND2 GATA4
29 dextrocardia with situs inversus 30.9 NODAL CITED2
30 wolff-parkinson-white syndrome 30.9 TBX5 NPPB NKX2-5 MYH7 JAG1
31 anterolateral myocardial infarction 30.8 NPPB NPPA
32 char syndrome 30.8 TBX5 NKX2-5 CITED2
33 ebstein anomaly 30.7 ZIC3 ZFPM2 TBX5 NPPB NODAL NKX2-5
34 constrictive pericarditis 30.7 ZIC3 NPPB
35 dilated cardiomyopathy 30.7 TBX5 NPPB NPPA NKX2-5 MYH7 HAND2
36 muscle hypertrophy 30.6 NPPA MYH7 GATA6
37 diaphragmatic hernia, congenital 30.6 ZFPM2 GATA6 GATA4
38 restrictive cardiomyopathy 30.5 ZIC3 NPPB MYH7
39 heart disease 30.5 ZIC3 TBX5 NPPB NPPA NOTCH1 NODAL
40 heart valve disease 30.5 NPPB NPPA NOTCH1 NKX2-5 MYH7 GATA4
41 hypoplastic left heart syndrome 30.2 ZIC3 TBX5 NPPB NPPA NOTCH1 NODAL
42 pulmonary atresia with ventricular septal defect 12.9
43 ventricular septal defect 2 12.9
44 ventricular septal defect 3 12.9
45 ventricular septal defect 1 12.9
46 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 12.4
47 double outlet right ventricle with subaortic or doubly committed ventricular septal defect 12.4
48 obsolete: single ventricular septal defect 12.4
49 obsolete: multiple ventricular septal defects 12.4
50 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 12.4

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 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.88 GATA6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.88 NODAL TBX5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.88 GATA6
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.88 TBX5
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.88 NOTCH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.88 NODAL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.88 NOTCH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.88 NODAL NOTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.88 CITED2 GATA6 NODAL NOTCH1 TBX5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.88 NODAL
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.88 GATA6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.88 NODAL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.88 TBX5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.88 NODAL
15 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.88 NOTCH1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.88 NOTCH1 TBX5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.88 GATA6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.88 CITED2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.88 CITED2 GATA6
20 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.88 GATA6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.88 CITED2 NOTCH1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.88 GATA6
23 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.88 TBX5
24 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.88 TBX5
25 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.88 NOTCH1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.88 GATA6
27 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.88 GATA6

MGI Mouse Phenotypes related to Ventricular Septal Defect:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.52 BRAF CITED2 GATA4 GATA5 GATA6 GDF1
2 cellular MP:0005384 10.4 BRAF GATA4 GATA5 GATA6 GDF1 HAND2
3 embryo MP:0005380 10.37 BRAF CITED2 GATA4 GATA6 GDF1 HAND2
4 homeostasis/metabolism MP:0005376 10.37 BRAF CITED2 GATA4 GATA5 GATA6 HAND2
5 digestive/alimentary MP:0005381 10.35 BRAF CITED2 GATA4 GATA5 GDF1 HAND2
6 growth/size/body region MP:0005378 10.35 BRAF CITED2 GATA4 GATA6 GDF1 HAND2
7 mortality/aging MP:0010768 10.34 BRAF CITED2 GATA4 GATA5 GATA6 GDF1
8 endocrine/exocrine gland MP:0005379 10.29 BRAF CITED2 GATA4 GATA5 GDF1 HAND2
9 hematopoietic system MP:0005397 10.29 BRAF CITED2 GATA4 GATA6 GDF1 HAND2
10 craniofacial MP:0005382 10.27 BRAF CITED2 GDF1 HAND2 ISL1 JAG1
11 muscle MP:0005369 10.25 BRAF GATA4 GATA5 GATA6 HAND2 ISL1
12 liver/biliary system MP:0005370 10.16 BRAF GATA4 GATA6 GDF1 HAND2 JAG1
13 normal MP:0002873 10.13 BRAF CITED2 GATA4 GATA6 GDF1 HAND2
14 nervous system MP:0003631 10.11 BRAF CITED2 GATA4 GDF1 HAND2 ISL1
15 limbs/digits/tail MP:0005371 10.08 BRAF CITED2 GATA4 GATA6 HAND2 ISL1
16 hearing/vestibular/ear MP:0005377 10 BRAF HAND2 ISL1 JAG1 NOTCH1 ZIC3
17 no phenotypic analysis MP:0003012 9.92 GATA4 HAND2 ISL1 JAG1 MYH7 NKX2-5
18 renal/urinary system MP:0005367 9.76 BRAF CITED2 GATA5 GDF1 ISL1 JAG1
19 respiratory system MP:0005388 9.65 BRAF CITED2 GATA4 GATA6 GDF1 NKX2-5
20 skeleton MP:0005390 9.4 BRAF CITED2 GATA4 GATA5 GDF1 HAND2

Drugs & Therapeutics for Ventricular Septal Defect

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

(show top 50) (show all 96)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Tocolytic Agents Phase 4
2 Anti-Asthmatic Agents Phase 4
3 Respiratory System Agents Phase 4
4 Bronchodilator Agents Phase 4
5 Albuterol Phase 4
6
Streptokinase Approved, Investigational Phase 3 9002-01-1
7
tannic acid Approved Phase 3 1401-55-4
8
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
9
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
10
Titanium dioxide Approved Phase 3 13463-67-7
11
Povidone Approved Phase 3 9003-39-8
12
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
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
Ethyl cellulose Phase 3 9004-57-3 24832091
22 Anti-Inflammatory Agents, Non-Steroidal Phase 3
23 Cyclooxygenase Inhibitors Phase 3
24 Antirheumatic Agents Phase 3
25 Anti-Inflammatory Agents Phase 3
26
Triacetin Phase 3 102-76-1 5541
27 Neurotransmitter Agents Phase 3
28 Adrenergic Agonists Phase 3
29 Adrenergic Agents Phase 3
30 Adrenergic beta-Agonists Phase 3
31 Autonomic Agents Phase 3
32 HIV Protease Inhibitors Phase 3
33
protease inhibitors Phase 3
34 Angiotensin-Converting Enzyme Inhibitors Phase 3
35 Antihypertensive 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
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
46 Anesthetics Phase 2
47 Narcotics Phase 2
48 Adjuvants, Anesthesia Phase 2
49 Central Nervous System Depressants Phase 2
50 Analgesics, Opioid Phase 2

Interventional clinical trials:

(show top 50) (show all 78)
# 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 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
6 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 Active, not recruiting NCT02891837 Phase 3 L-citrulline
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 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
15 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
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 Active, not recruiting 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 Molecular Basis of Congenital Heart Defects Unknown status NCT00579358
27 Clinical Evaluation of Transcatheter Closure and Surgery of Perimembranous Ventricular Septal Defects Completed NCT00890799
28 Precision Assessment of Perioperative Effectiveness and Safety of Transthoracic Minimally Invasive Hybrid Closure for Pediatric Ventricular Septal Defects Completed NCT02794584 sufentanil anesthesia
29 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
30 Closure of Muscular Ventricular Septal Defects With The AMPLATZER™ Muscular VSD Occluder Completed NCT00583791
31 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
32 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832
33 Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect Completed NCT02861963
34 Cardiac Output During Exercise in Young Adults Operated for Ventricular Septal Defect as Children Completed NCT02138435
35 Postoperative Right Bundle Branch Block - Long-term Effect on the Right Ventricle in Children Operated for Ventricular Septal Defect Completed NCT01480908
36 Ad Hoc Analysis for the Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With a Closed Ventricular Septal Defect Completed NCT02648984
37 Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up. Completed NCT02552485
38 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
39 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
40 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
41 Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect Completed NCT03684161
42 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
43 Family Study of Congenital Cardiovascular Malformations Completed NCT00005258
44 Non-invasive Imaging and Exercise Tolerance Tests in Post-repair Tetralogy of Fallot - Intervention and Course in Patients Over 8 Years Old Completed NCT00266188
45 Evaluation of the Usefulness of Imaging Methods and 3D Reconstruction in Percutaneous Closure Procedures of Paravalvular Leak (Clinical Trial). Completed NCT03371472
46 SPY Imaging System: Its Role in Pediatric Cardiac Surgery Completed NCT00446927
47 Follow up of Adults With Congenitally Malformed Hearts With Focus on Computer-Based Education and Psychosocial Support Completed NCT01234753
48 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
49 Does Preoperative Acetaminophen Reduce Biochemical Markers of Oxidative Stress From Cardiopulmonary Bypass? Completed NCT01228305
50 Pediatric Remote Ischemic Pre-conditioning Prior to Complex Cardiac Surgery Completed NCT01739088

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 12624)
# 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]. 54 61
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. 61 54
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. 61 54
17786380 2008
9
Brain natriuretic peptide levels before and after ventricular septal defect repair. 61 54
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. 61 54
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. 54 61
12372254 2002
16
Impact of facilities accredited by both adult and pediatric cardiology societies on the outcome of patients with adult congenital heart disease. 61
31421934 2020
17
Using the Arm for Structural Interventions: Case Selection or Wave of the Future. 61
31733742 2020
18
Diagnostic Reference Levels, Deterministic and Stochastic Risks in Pediatric Interventional Cardiology Procedures. 61
31764423 2020
19
Erratum to "Spontaneous Closure Rates of Ventricular Septal Defects (6,750 Consecutive Neonates)". 61
31757355 2020
20
Beyond atrial septal defect closure, it is time to start seriously considering closing ventricular septal defects with devices. 61
31652133 2020
21
Failure of Cellularization of Ventriculotomy Patch Leading to Right Ventricular Pseudoaneurysm. 61
31755355 2020
22
Results of a phase 1 multicentre investigation of dexmedetomidine bolus and infusion in corrective infant cardiac surgery. 61
31623840 2019
23
Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome. 61
31835735 2019
24
Pseudoaneurysm of the aortic arch early after coarctation repair in the neonatal period. 61
31840633 2019
25
Clinical and postmortem findings of pentalogy of Fallot in an 18-month-old Holstein heifer. 61
31582644 2019
26
[Para valvular leak closure in TAVI]. 61
31733689 2019
27
Intrahepatic persistent fetal right umbilical vein: a retrospective study. 61
31842642 2019
28
Uric acid and sphingomyelin enhance autophagy in iPS cell-originated cardiomyocytes through lncRNA MEG3/miR-7-5p/EGFR axis. 61
31559872 2019
29
Double-chambered Right Ventricle in Children. 61
31839094 2019
30
A 31-year-old pericardial textiloma. 61
31815276 2019
31
A unique indication for the senning procedure: Atrioventricular discordance with ventriculoarterial concordance. 61
31793037 2019
32
Screening for congenital heart disease in a Singapore neonatal unit. 61
31820009 2019
33
The bridging bronchus: A comprehensive review of a rare, potentially life-threatening congenital airway anomaly associated with cardiovascular defects. 61
31468716 2019
34
Associations of maternal upper respiratory tract infection/influenza during early pregnancy with congenital heart disease in offspring: evidence from a case-control study and meta-analysis. 61
31791237 2019
35
Acute Change in Ventricular Contractility-Load Coupling After Corrective Surgery for Congenital Heart Defect: A Retrospective Cohort Study. 61
31482237 2019
36
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. 61
31837205 2019
37
Spontaneous closure of muscular ventricular septal defect by growth of right ventricular muscle bundles: a rare mechanism. 61
31840623 2019
38
Pseudoaneurysm of the Ascending Aorta at the Cannulation Site Diagnosed More Than Four Decades After Repair of Ventricular Septal Defect. 61
31699357 2019
39
The Organ-Protective Effect of Higher Partial Pressure of Arterial Carbon Dioxide in the Normal Range for Infant Patients Undergoing Ventricular Septal Defect Repair. 61
31844927 2019
40
Progression of Aortic Regurgitation After Subarterial Ventricular Septal Defect Repair: Optimal Timing of the Operation. 61
31520096 2019
41
Double Orifice Mitral Valve in Tricuspid Atresia: A Rare Association. 61
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42
Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report. 61
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43
Health-related quality of life in children and adolescents undergoing intraoperative device closure of isolated perimembranous ventricular septal defects in southeastern China. 61
31842949 2019
44
Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review. 61
31711272 2019
45
Imaging of Pulmonary Atresia With Ventricular Septal Defect. 61
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46
The expanding phenotypes of cohesinopathies: one ring to rule them all! 61
31516082 2019
47
Utility of Pulmonary Artery Acceleration Time to Estimate Systolic Pulmonary Artery Pressure in Neonates and Young Infants. 61
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Epidemiological analysis of neonatal CHD near Petrochemical Complex. 61
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49
Double-chambered Left Ventricle: Clinical Features Comparison between Children and Adults. 61
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Characterisation of the developing heart in a pressure overloaded model utilising RNA sequencing to direct functional analysis. 61
31724174 2019

Variations for Ventricular Septal Defect

ClinVar genetic disease variations for Ventricular Septal Defect:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 46;XY;t(5;7)(q35;q33)dnTranslocation Pathogenic 268041
3 BRAF NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)SNV Pathogenic/Likely pathogenic 13978 rs180177039 7:140477806-140477806 7:140778006-140778006
4 FOXF1 NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)SNV Likely pathogenic 374061 rs1057518868 16:86544455-86544455 16:86510849-86510849
5 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
6 AAR2 NM_001271874.2(AAR2):c.520G>A (p.Val174Met)SNV Likely pathogenic 242897 rs746800707 20:34828310-34828310 20:36240388-36240388
7 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)SNV Likely pathogenic 374121 rs1057518914 X:20211665-20211665 X:20193547-20193547
8 FOXP4 NM_138457.3(FOXP4):c.812del (p.Leu271fs)deletion Likely pathogenic 242887 rs1114167294 6:41555193-41555193 6:41587455-41587455
9 46;XX;der(6)t(6;13)(q23.3;q22)inv(6)(p21.3q15);der(13)t(6;13)dncomplex Uncertain significance 267835
10 46;XY;t(1;3)(p22;q21)dnTranslocation Uncertain significance 267862
11 46;XY;t(2;13)(p25.2;q31.3)dnTranslocation Uncertain significance 267864
12 46;XY;t(6;20)(p12;q13.1)dnTranslocation Uncertain significance 267920
13 46;XY;inv(9)(p24q12)inversion Uncertain significance 267988
14 RYR1 NM_000540.2(RYR1):c.8290G>A (p.Glu2764Lys)SNV Uncertain significance 133221 rs193922829 19:38995701-38995701 19:38505061-38505061
15 MYCN NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu)SNV Uncertain significance 523483 rs1553371013 2:16086050-16086050 2:15945928-15945928
16 HUWE1 NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro)SNV Uncertain significance 523539 rs1556948950 X:53596615-53596615 X:53569655-53569655
17 FLVCR2 GRCh37/hg19 14q24.3(chr14:76105695-76107636)copy number loss Uncertain significance 523310 14:76105695-76107636
18 OBSL1 NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)SNV Uncertain significance 598982 2:220423067-220423067 2:219558345-219558345
19 OBSL1 NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)SNV Uncertain significance 598981 2:220424193-220424193 2:219559471-219559471
20 ERF NM_006494.4(ERF):c.1636C>T (p.Arg546Ter)SNV Uncertain significance 599007 19:42752628-42752628 19:42248476-42248476
21 FLNA NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)SNV Uncertain significance 617640 rs781928289 X:153588145-153588145 X:154359777-154359777
22 GATA4 NM_002052.5(GATA4):c.94G>C (p.Ala32Pro)SNV Uncertain significance 599008 8:11565915-11565915 8:11708406-11708406
23 46;XY;t(16;20)(q11.2;q13.2)dnTranslocation Uncertain significance 267820
24 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

Pathways related to Ventricular Septal Defect according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 NPPB NPPA MYH7 GATA4
2
Show member pathways
12.31 ZIC3 NOTCH1 NODAL GATA6 GATA4
3
Show member pathways
12.29 TBX5 NPPB NPPA NKX2-5 MYH7 GATA4
4
Show member pathways
12.05 TBX5 NPPA NKX2-5 GATA4
5 11.95 ZFPM2 GATA6 GATA5 GATA4
6 11.86 TBX5 NOTCH1 NODAL NKX2-5 ISL1 GATA4
7 11.33 NOTCH1 GATA6 GATA4
8 11.33 ZIC3 ISL1 GATA6 GATA4
9 11.16 TBX5 NOTCH1 NODAL NKX2-5 ISL1 GATA4
10 10.9 NPPB NPPA NKX2-5 MYH7 GATA4
11 10.83 TBX5 NOTCH1 NKX2-5 ISL1 HAND2 GATA6
12 10.78 NOTCH1 JAG1
13 10.74 NOTCH1 JAG1
14 10.28 NPPA NKX2-5 GATA4

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 10 ZIC3 ZFPM2 TBX5 NPPB NPPA NOTCH1
2 protein-containing complex GO:0032991 9.43 TBX5 NPPB NPPA NKX2-5 HAND2 CITED2
3 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 NOTCH1 NKX2-5 ISL1 HAND2 GATA6
2 cell differentiation GO:0030154 10.23 ZIC3 ZFPM2 NOTCH1 NKX2-5 ISL1 HAND2
3 multicellular organism development GO:0007275 10.23 ZIC3 TBX5 NOTCH1 NODAL NKX2-5 JAG1
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.19 ZFPM2 TBX5 NOTCH1 NODAL NKX2-5 ISL1
5 negative regulation of transcription, DNA-templated GO:0045892 10.15 ZFPM2 NOTCH1 NKX2-5 GATA6 CITED2
6 negative regulation of apoptotic process GO:0043066 10.14 NKX2-5 HAND2 GATA6 CITED2 BRAF
7 positive regulation of gene expression GO:0010628 10.12 NOTCH1 NKX2-5 HAND2 GATA5 CITED2 BRAF
8 negative regulation of gene expression GO:0010629 10.04 NOTCH1 HAND2 GATA5 CITED2
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.04 NOTCH1 NODAL HAND2 GATA4 BRAF
10 positive regulation of transcription, DNA-templated GO:0045893 10.02 ZIC3 ZFPM2 TBX5 NOTCH1 NKX2-5 HAND2
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 NOTCH1 NODAL HAND2 GATA6 CITED2
14 male gonad development GO:0008584 9.93 GATA6 GATA4 CITED2
15 liver development GO:0001889 9.93 NOTCH1 NODAL GATA6 CITED2
16 determination of left/right symmetry GO:0007368 9.92 ZIC3 NOTCH1 NODAL CITED2
17 lung development GO:0030324 9.91 ZIC3 ZFPM2 TBX5 NOTCH1 NODAL
18 negative regulation of neuron differentiation GO:0045665 9.89 NOTCH1 JAG1 ISL1
19 negative regulation of cell differentiation GO:0045596 9.89 NOTCH1 NODAL JAG1
20 vasculogenesis GO:0001570 9.89 ZFPM2 NKX2-5 CITED2
21 heart morphogenesis GO:0003007 9.88 NKX2-5 ISL1 HAND2
22 thymus development GO:0048538 9.88 HAND2 CITED2 BRAF
23 outflow tract morphogenesis GO:0003151 9.88 NOTCH1 NKX2-5 ISL1 CITED2
24 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.86 NKX2-5 HAND2 GATA4
25 ventricular septum development GO:0003281 9.86 TBX5 GATA4 CITED2
26 heart development GO:0007507 9.86 ZFPM2 TBX5 NOTCH1 NODAL NKX2-5 ISL1
27 positive regulation of cardiac muscle cell proliferation GO:0060045 9.85 ZFPM2 TBX5 NOTCH1 GATA6
28 endoderm development GO:0007492 9.84 NOTCH1 NODAL GATA4
29 ventricular septum morphogenesis GO:0060412 9.84 ZFPM2 NOTCH1 NKX2-5 CITED2
30 positive regulation of vascular endothelial growth factor production GO:0010575 9.83 NODAL ISL1 GATA4
31 aortic valve morphogenesis GO:0003180 9.8 NOTCH1 JAG1 GATA5 GATA4
32 cardiac septum morphogenesis GO:0060411 9.79 NOTCH1 JAG1 CITED2
33 cardiac muscle hypertrophy in response to stress GO:0014898 9.79 NPPA MYH7 GATA6
34 adult heart development GO:0007512 9.78 NKX2-5 MYH7 HAND2
35 outflow tract septum morphogenesis GO:0003148 9.78 ZFPM2 NKX2-5 ISL1 GATA6
36 cardiac right ventricle morphogenesis GO:0003215 9.77 JAG1 ISL1 GATA4
37 positive regulation of transcription by RNA polymerase II GO:0045944 9.77 ZIC3 ZFPM2 TBX5 NOTCH1 NODAL NKX2-5
38 embryonic heart tube development GO:0035050 9.76 NODAL NKX2-5
39 negative regulation of cardiac muscle hypertrophy GO:0010614 9.76 NOTCH1 GATA5
40 pharyngeal system development GO:0060037 9.76 NKX2-5 ISL1
41 negative regulation of myotube differentiation GO:0010832 9.76 NOTCH1 NKX2-5
42 cardiac muscle cell differentiation GO:0055007 9.76 TBX5 NKX2-5 GATA6 GATA4
43 endocardial cushion morphogenesis GO:0003203 9.75 NOTCH1 ISL1
44 cell growth involved in cardiac muscle cell development GO:0061049 9.75 NPPA GATA4
45 positive regulation of cell-cell adhesion GO:0022409 9.75 NODAL CITED2
46 ventricular trabecula myocardium morphogenesis GO:0003222 9.75 NOTCH1 NKX2-5
47 negative regulation of stem cell differentiation GO:2000737 9.75 NOTCH1 JAG1
48 pulmonary valve morphogenesis GO:0003184 9.74 NOTCH1 JAG1
49 trophectodermal cell differentiation GO:0001829 9.74 NODAL CITED2
50 left/right axis specification GO:0070986 9.74 NOTCH1 CITED2

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 GO:0003677 10.16 ZIC3 ZFPM2 TBX5 NKX2-5 ISL1 HAND2
2 DNA-binding transcription factor activity GO:0003700 9.92 ZIC3 TBX5 NOTCH1 NKX2-5 GATA6 GATA5
3 chromatin binding GO:0003682 9.89 NOTCH1 NKX2-5 ISL1 GATA6 CITED2
4 transcription factor binding GO:0008134 9.85 ZFPM2 TBX5 NKX2-5 HAND2 GATA6 GATA4
5 transcription coactivator activity GO:0003713 9.83 ZFPM2 ISL1 GATA4 CITED2
6 transcription regulatory region DNA binding GO:0044212 9.83 NKX2-5 HAND2 GATA6 GATA5 GATA4
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.81 ZIC3 ZFPM2 TBX5 NKX2-5 ISL1 HAND2
8 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 ZIC3 TBX5 NOTCH1 NKX2-5 ISL1 HAND2
9 RNA polymerase II activating transcription factor binding GO:0001102 9.65 TBX5 ISL1 CITED2
10 enhancer sequence-specific DNA binding GO:0001158 9.58 ISL1 GATA5 GATA4
11 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 ZIC3 TBX5 NOTCH1 NKX2-5 ISL1 GATA6
12 hormone receptor binding GO:0051427 9.46 NPPB NPPA
13 sequence-specific DNA binding GO:0043565 9.28 ZIC3 TBX5 NOTCH1 NKX2-5 ISL1 HAND2

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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