MCID: VNT002
MIFTS: 58

Ventricular Septal Defect

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Ventricular Septal Defect

MalaCards integrated aliases for Ventricular Septal Defect:

Name: Ventricular Septal Defect 11 75 28 5 14 31 33
Ventricular Septal Defects 19 53 14
Heart Septal Defects, Ventricular 19 43
Interventricular Septal Defect 11 33
Congenital Ventricular Septal Defect 33
Vsd - [ventricular Septum Defect] 33
Single Ventricular Septal Defect 33
Ventricular Septal Abnormality 11
Interventricular Septum Defect 33
Ventricular Septum Defect 33

Classifications:



External Ids:

Disease Ontology 11 DOID:1657
ICD9CM 34 745.4
MeSH 43 D006345
NCIt 49 C84506
SNOMED-CT 68 156914003
ICD10 31 Q21.0
UMLS 71 C0018818

Summaries for Ventricular Septal Defect

Disease Ontology: 11 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 ventricular septal defects, is related to tetralogy of fallot and heart septal defect. An important gene associated with Ventricular Septal Defect is FOXP4 (Forkhead Box P4), and among its related pathways/superpathways are Nervous system development and Human Embryonic Stem Cell Pluripotency. The drugs Salbutamol and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and smooth muscle, and related phenotypes are Increased shRNA abundance (Z-score > 2) and muscle

Wikipedia: 75 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 662)
# Related Disease Score Top Affiliating Genes
1 tetralogy of fallot 33.2 ZIC3 ZFPM2 TBX5 NPPB NODAL NKX2-5
2 heart septal defect 33.1 ZIC3 ZFPM2 TBX5 NPPB NODAL NKX2-5
3 double outlet right ventricle 33.0 ZIC3 ZFPM2 TBX5 NODAL NKX2-5 JAG1
4 conotruncal heart malformations 33.0 ZFPM2 NKX2-5 GDF1 GATA6
5 tricuspid atresia 32.7 ZIC3 ZFPM2 TBX5 NKX2-5 GATA6 GATA4
6 atrioventricular septal defect 32.6 ZIC3 ZFPM2 TBX5 NODAL NKX2-5 GDF1
7 aortic valve insufficiency 32.5 NPPB NKX2-5 GATA5
8 holt-oram syndrome 32.4 ZIC3 TBX5 NKX2-5 GATA4
9 congenital heart defects, multiple types, 4 32.4 GATA6 GATA4
10 right atrial isomerism 32.4 ZIC3 TBX5 NODAL NKX2-5 GDF1 CITED2
11 transposition of the great arteries, dextro-looped 32.3 ZIC3 TBX5 NPPB NODAL NKX2-5 GDF1
12 third-degree atrioventricular block 32.1 TBX5 NPPB NKX2-5
13 atrioventricular block 32.1 TBX5 NPPB NKX2-5 GATA4
14 interatrial communication 32.1 TBX5 SMARCA4 NKX2-5
15 aortic valve disease 2 32.1 TBX5 NPPB NKX2-5 GATA4
16 patent ductus arteriosus 1 31.9 ZIC3 ZFPM2 TBX5 SMARCA4 NPPB NODAL
17 atrial heart septal defect 31.8 ZIC3 ZFPM2 TBX5 SMARCA4 NPPB NODAL
18 aortic valve disease 1 31.7 TBX5 NPPB NKX2-5 JAG1 GATA6 GATA5
19 pulmonary valve stenosis 31.7 ZIC3 TBX5 NKX2-5 JAG1 GATA4
20 pulmonic stenosis 31.7 ZIC3 JAG1 GATA5 BRAF
21 ebstein anomaly 31.5 ZFPM2 TBX5 NPPB NODAL NKX2-5 GATA4
22 chromosome 22q11.2 deletion syndrome, distal 31.4 ZIC3 TBX5 NKX2-5 GATA4
23 patent foramen ovale 31.4 ZIC3 TBX5 NPPB NKX2-5 JAG1 GATA6
24 pulmonary valve insufficiency 31.4 NPPB NKX2-5
25 hypertrophic cardiomyopathy 31.4 TBX5 NPPB NKX2-5 GATA4 BRAF
26 orofaciodigital syndrome viii 31.4 ZIC3 TBX5 NKX2-5 GATA4
27 dextrocardia with situs inversus 31.3 NODAL CITED2
28 tricuspid valve stenosis 31.3 NPPB NKX2-5
29 visceral heterotaxy 31.2 ZIC3 NODAL NKX2-5 GDF1
30 left ventricular noncompaction 31.2 TBX5 NKX2-5 JAG1 GATA4
31 heart disease 31.2 ZIC3 TBX5 NPPB NODAL NKX2-5 JAG1
32 total anomalous pulmonary venous return 1 31.1 ZIC3 TBX5 NODAL NKX2-5 GATA4
33 diaphragmatic hernia, congenital 31.1 ZFPM2 TBX5 GATA6 GATA4 FOXF1
34 orthostatic intolerance 31.0 TBX5 RPS6KA3 NKX2-5
35 velocardiofacial syndrome 31.0 TBX5 NKX2-5 GATA4
36 aortic aneurysm, familial thoracic 1 30.9 TBX5 SMARCA4 NKX2-5 JAG1 GATA6 GATA5
37 patau syndrome 30.8 ZIC3 TBX5 NODAL NKX2-5 GATA4
38 wolff-parkinson-white syndrome 30.8 TBX5 NPPB NODAL NKX2-5 JAG1
39 hypoplastic left heart syndrome 30.7 ZIC3 ZFPM2 TBX5 NPPB NODAL NKX2-5
40 atypical coarctation of aorta 30.6 JAG1 GATA6
41 atrial septal defect 2 30.6 TBX5 NKX2-5 GATA4
42 jacobsen syndrome 30.6 ZIC3 TBX5 NKX2-5 GATA4
43 char syndrome 30.6 ZIC3 TBX5 CITED2
44 duodenal atresia 30.6 ZIC3 NODAL FOXF1
45 chromosome 1p36 deletion syndrome 30.5 TBX5 NKX2-5 GATA4
46 noonan syndrome 1 30.5 ZIC3 TBX5 NKX2-5 JAG1 GATA4 BRAF
47 vacterl association, x-linked, with or without hydrocephalus 30.5 ZIC3 FOXF1
48 wolf-hirschhorn syndrome 30.5 ZFPM2 NKX2-5 GATA4
49 esophageal atresia 30.4 ZIC3 FOXF1 BRAF
50 tracheomalacia 30.3 TBX5 FOXF1

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



Diseases related to Ventricular Septal Defect

Symptoms & Phenotypes for Ventricular Septal Defect

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

25 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.64 GATA6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.64 TBX5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.64 NODAL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.64 NODAL
5 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.64 NODAL
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.64 NODAL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.64 NODAL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.64 CITED2 GATA6 NODAL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.64 NODAL
10 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.64 CITED2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.64 CITED2 GATA6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.64 GATA6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.64 TBX5
14 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.64 TBX5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.64 CITED2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.64 GATA6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.64 CITED2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.64 TBX5

MGI Mouse Phenotypes related to Ventricular Septal Defect:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.34 BRAF FOXF1 GATA4 GATA5 GATA6 JAG1
2 normal MP:0002873 10.33 BRAF CITED2 GATA4 GATA6 GDF1 JAG1
3 growth/size/body region MP:0005378 10.29 BRAF CITED2 FOXF1 GATA4 GATA6 GDF1
4 nervous system MP:0003631 10.28 BRAF CITED2 FOXP4 GATA4 GDF1 JAG1
5 liver/biliary system MP:0005370 10.25 BRAF FOXF1 GATA4 GATA6 GDF1 JAG1
6 embryo MP:0005380 10.25 BRAF CITED2 FOXF1 FOXP4 GATA4 GATA6
7 digestive/alimentary MP:0005381 10.22 BRAF CITED2 FOXF1 FOXP4 GATA4 GATA5
8 endocrine/exocrine gland MP:0005379 10.2 BRAF CITED2 FOXF1 GATA4 GATA5 GDF1
9 cardiovascular system MP:0005385 10.19 BRAF CITED2 FOXF1 FOXP4 GATA4 GATA5
10 cellular MP:0005384 10.1 BRAF FOXF1 GATA4 GATA5 GATA6 GDF1
11 limbs/digits/tail MP:0005371 10.04 BRAF CITED2 GATA4 GATA6 SMARCA4 TBX5
12 craniofacial MP:0005382 10.02 BRAF CITED2 GDF1 JAG1 NKX2-5 NODAL
13 respiratory system MP:0005388 9.97 BRAF CITED2 FOXF1 FOXP4 GATA4 GATA6
14 skeleton MP:0005390 9.7 BRAF CITED2 GATA4 GATA5 GDF1 JAG1
15 mortality/aging MP:0010768 9.5 BRAF CITED2 FOXF1 FOXP4 GATA4 GATA5

Drugs & Therapeutics for Ventricular Septal Defect

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

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salbutamol Approved, Vet_approved Phase 4 18559-94-9 2083
2 Neurotransmitter Agents Phase 4
3 Adrenergic Agonists Phase 4
4 Adrenergic Agents Phase 4
5 Bronchodilator Agents Phase 4
6 Adrenergic beta-Agonists Phase 4
7 Anti-Asthmatic Agents Phase 4
8 Respiratory System Agents Phase 4
9 Tocolytic Agents Phase 4
10
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
11
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
12
Enalaprilat Approved Phase 3 76420-72-9 6917719 5462501
13
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5388962 5362032
14 Plasma-lyte 148 Phase 3
15 Ophthalmic Solutions Phase 3
16 Antihypertensive Agents Phase 3
17 Angiotensin-Converting Enzyme Inhibitors Phase 3
18 HIV Protease Inhibitors Phase 3
19
protease inhibitors Phase 3
20
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2 23431961
21
Sildenafil Approved, Investigational Phase 1, Phase 2 139755-83-2, 171599-83-0 5212 135398744
22
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
23
Dexmedetomidine Approved, Experimental, Vet_approved Phase 2 86347-14-0, 113775-47-6 68602 5311068
24
Ketamine Approved, Vet_approved Phase 2 6740-88-1, 1867-66-9 3821
25
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
26
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
27 Anesthetics Phase 2
28 Cardiotonic Agents Phase 1, Phase 2
29 Phosphodiesterase Inhibitors Phase 1, Phase 2
30 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
31 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
32 Vasodilator Agents Phase 1, Phase 2
33 Platelet Aggregation Inhibitors Phase 1, Phase 2
34 Citrate Phase 1, Phase 2
35 Protective Agents Phase 1, Phase 2
36 Adrenergic alpha-Agonists Phase 2
37 Hypnotics and Sedatives Phase 2
38 Analgesics, Non-Narcotic Phase 2
39 Analgesics Phase 2
40 Excitatory Amino Acid Antagonists Phase 2
41 Anesthetics, Intravenous Phase 2
42 Anesthetics, General Phase 2
43 Anesthetics, Dissociative Phase 2
44 Calcium, Dietary Phase 2
45 Anticoagulants Phase 2
46 Analgesics, Opioid Phase 2
47 Narcotics Phase 2
48 Chelating Agents Phase 2
49 Blood Substitutes Phase 2
50 Plasma Substitutes Phase 2

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult 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 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 Patients Undergoing Surgery for Congenital Heart Defects Recruiting NCT05253209 Phase 3 L-citrulline;Plasmalyte A
5 Trial of ACE Inhibition in Children With Mitral Regurgitation After Repair of AVSD Terminated NCT00113698 Phase 3 Enalapril
6 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
7 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
8 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
9 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
10 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
11 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Active, not recruiting NCT04017975 Phase 2 Fluorescite
12 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
13 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
14 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
15 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
16 Changes in Ventricular Remodeling and Exercise Cardiopulmonary Function After Transcatheter Closure of Ventricular Septal Defect Unknown status NCT03127748
17 Chinese Academy of Medical Sciences, Fuwai Hospital Unknown status NCT03941691
18 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
19 Ad Hoc Analysis for the Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With a Closed Ventricular Septal Defect Completed NCT02648984
20 Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect Completed NCT03684161
21 Cardiac Output During Exercise in Young Adults Operated for Ventricular Septal Defect as Children Completed NCT02138435
22 Transcatheter Versus Surgical Closure of Ventricular Septal Defect: A Comparative Study Completed NCT05306483
23 The Effect of Transcatheter Ventricular Septal Defect Closure on Heart Rate Variability Parameters Completed NCT04859036
24 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832
25 Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect Completed NCT02861963
26 Postoperative Right Bundle Branch Block - Long-term Effect on the Right Ventricle in Children Operated for Ventricular Septal Defect Completed NCT01480908
27 Mechanical Complications of Acute Myocardial Infarction: an International Multicenter Cohort Study (CAUTION Study 1) Completed NCT03848429
28 The AMPLATZER™ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) Post Approval Study Completed NCT03165526
29 Nutritional, Hormonal and Anthropometric Evaluation of Children After Transcatheter VSD Closure Completed NCT05200910
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 Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up. Completed NCT02552485
32 Precision Assessment of Perioperative Effectiveness and Safety of Transthoracic Minimally Invasive Hybrid Closure for Pediatric Ventricular Septal Defects Completed NCT02794584 sufentanil anesthesia
33 Clinical Evaluation of Transcatheter Closure and Surgery of Perimembranous Ventricular Septal Defects Completed NCT00890799
34 Closure of Muscular Ventricular Septal Defects With The AMPLATZER™ Muscular VSD Occluder Completed NCT00583791
35 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
36 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
37 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
38 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
39 Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX) Recruiting NCT04452188
40 Amplatzer™ Trevisio™ Delivery System Post-Approval Study Recruiting NCT04433520
41 A Multicenter, International, Follow-up Study to Monitor the Efficacy and Safety of the Occlutech® Perimembranous Ventricular Septal Defect (PmVSD) Occluder in Patients With Perimembranous Ventricular Septal Defects Recruiting NCT04034498
42 Lifetech KONAR-MF™ VSD Occluder Post-Market Clinical Follow-Up Study Clinical Investigation Plan Recruiting NCT04417712
43 French Observatory of Congenital Ventricular Septal Defect With Pulmonary Overload Active, not recruiting NCT03363932
44 A Multicenter, International, Follow-up Study to Monitor the Efficacy and Safety of the Occlutech® Muscular Ventricular Septal Defect (mVSD) Occluder in Patients With Muscular Ventricular Septal Defects Active, not recruiting NCT05329350
45 Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study Active, not recruiting NCT00647387
46 Improving Care for Children With Congenital Heart Disease by Cardiovascular Biomarker Profiling and Advanced Non-invasive Cardiac Imaging Techniques. Enrolling by invitation NCT04667455
47 Optimal Timing for Repair of Left-to-Right Shunt Lesions Terminated NCT00229827
48 Rhythm Disturbances After Ventricular Septal Defects Terminated NCT00208624

Search NIH Clinical Center for Ventricular Septal Defect

Cochrane evidence based reviews: heart septal defects, ventricular

Genetic Tests for Ventricular Septal Defect

Genetic tests related to Ventricular Septal Defect:

# Genetic test Affiliating Genes
1 Ventricular Septal Defect 28

Anatomical Context for Ventricular Septal Defect

Organs/tissues related to Ventricular Septal Defect:

MalaCards : Heart, Lung, Smooth Muscle, Brain, Kidney, Endothelial, Liver

Publications for Ventricular Septal Defect

Articles related to Ventricular Septal Defect:

(show top 50) (show all 14552)
# Title Authors PMID Year
1
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 5
29555671 2018
2
Familial transposition of the great arteries caused by multiple mutations in laterality genes. 53 62
19933292 2010
3
GATA4 mutations in Chinese patients with congenital cardiac septal defects. 53 62
19915893 2010
4
B-type natriuretic peptide and heart failure in patients with ventricular septal defect: a pilot study. 53 62
19636481 2009
5
[Novel NKX2-5 mutations identified in patients with congenital ventricular septal defects]. 53 62
20137692 2009
6
GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease. 53 62
19302747 2009
7
Association of TBX5 gene polymorphism with ventricular septal defect in the Chinese Han population. 53 62
19187613 2009
8
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. 53 62
18307440 2008
9
Paradoxical relationship between B-type natriuretic peptide and pulmonary vascular resistance in patients with ventricular septal defect and concomitant severe pulmonary hypertension. 53 62
17786380 2008
10
Brain natriuretic peptide levels before and after ventricular septal defect repair. 53 62
18036937 2007
11
Plasma brain natriuretic peptide and systemic ventricular function in asymptomatic patients late after the Fontan procedure. 53 62
18043998 2007
12
Correlation of plasma B-type natriuretic peptide with shunt severity in patients with atrial or ventricular septal defect. 53 62
17530321 2007
13
Relationship between pericardial fluid B-type natriuretic peptide and ventricular structure and function. 53 62
17350484 2007
14
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. 53 62
15124836 2004
15
Clinical implication of plasma natriuretic peptides in children with ventricular septal defect. 53 62
12828576 2003
16
Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice. 53 62
12372254 2002
17
Endovascular Repair of an Intrathoracic Subclavian Artery Aneurysm in a Patient With Dextrocardia. 62
35675973 2023
18
Intravascular ultrasound-guided transcaval approach for thoracic endovascular aneurysm repair. 62
36262916 2022
19
Outcomes of Gastrostomy Tubes in Newborns With Congenital Heart Disease and Comparison of Techniques. 62
36063624 2022
20
Monitoring of intraoperative femoral oxygenation predicts acute kidney injury after pediatric cardiac surgery. 62
36032034 2022
21
Effect of aortic arch surgery in newborns' cerebral and gastrointestinal hemodynamics: evaluation by Doppler ultrasonography. 62
33827365 2022
22
Transcatheter closure of large perimembranous ventricular septal defects with inlet to outlet extension with the Amplatzer Vascular Plug-II. 62
36468549 2022
23
Incidence, Clinical Features, and Association with Prognosis of Bloodstream Infection in Pediatric Patients After Percutaneous or Surgical Treatment for Ventricular Septal Defect or Atrial Septal Defect: A Retrospective Cohort Study. 62
36242740 2022
24
A fully degradable transcatheter ventricular septal defect occluder: Towards rapid occlusion and post-regeneration absorption. 62
36401954 2022
25
Impact of liver dysfunction on outcomes in children with Alagille syndrome undergoing congenital heart surgery. 62
36458925 2022
26
Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry. 62
35995687 2022
27
A rare case of isolated single coronary artery, Lipton's type LIIB diagnosed by computed tomography coronary angiography. 62
36204404 2022
28
A rare combination of pulmonary atresia with ventricular septal defect and congenital aortic stenosis with rheumatic mitral disease in an adolescent. 62
33840041 2022
29
Prenatal diagnosis of major aortopulmonary collateral arteries (MAPCA) in fetuses with pulmonary atresia with ventricular septal defect and agenesis of ductus arteriosus. 62
33525939 2022
30
Computed tomography in tetralogy of Fallot: pre- and postoperative imaging evaluation. 62
34427695 2022
31
An exceptional survival in an unoperated tetralogy of Fallot in a 66-year-old man: A case report. 62
36281282 2022
32
Eisenmenger Syndrome Among Children with Unrepaired Congenital Heart Defects in Yunnan, China. 62
35522268 2022
33
Prenatal diagnosis of isolated perimembranous ventricular septal defects undergoing primary surgical repair in infancy. 62
34139939 2022
34
Impact of Hospital Volume on Outcomes of Septal Myectomy for Hypertrophic Cardiomyopathy. 62
35779600 2022
35
Aortic-to-Right Ventricle Shunting for Rare Cardiovascular Conditions. 62
35231433 2022
36
Tricuspid Valve Endocarditis in Four Patients with Unrepaired Restrictive Perimembranous Ventricular Septal Defects. 62
35657420 2022
37
Ventricular septal defect and aortic hypoplasia in congenital cytomegalovirus infection: occasional finding or underdetected correlation? 62
33910458 2022
38
Prenatal Diagnosis and Postnatal Outcome of Eight Cases with Criss-Cross Heart - A Multicenter Case Series. 62
32674186 2022
39
Exploring Noncardiac Surgical Needs From Infancy to Adulthood in Patients With Congenital Heart Disease. 62
36216687 2022
40
Severe Restriction of a VSD and Development of Pulmonary Atresia in a Patient with Transposition of the Great Arteries: Fetal Diagnosis. 62
35767020 2022
41
Contemporary outcomes of the double switch operation for congenitally corrected transposition of the great arteries. 62
35688715 2022
42
Mid-term outcomes of right subaxillary approach versus median sternotomy incision for ventricular septal defect with patent ductus arteriosus. 62
36443708 2022
43
Outcomes of Children with Unoperated Congenital Heart Disease Admitted to PICU-A Single-Center Experience. 62
35201562 2022
44
Atrioventricular septal defect with an absent or tiny ostium primum defect: a case series of three surgical cases. 62
36258832 2022
45
Right-sided Infective Endocarditis with Ventricular Free Wall Vegetation Caused by Abiotrophia defectiva in a Patient with Unrepaired Ventricular Septal Defect. 62
35431307 2022
46
Can Pediatric Heart Failure Therapy Be Improved? Yes It Can, But…. 62
35931946 2022
47
Peratrial device closure of perimembranous ventricular septal defects via a small right subaxillary incision: Midterm results in patients <12 months of age. 62
36460210 2022
48
Tricuspid valve detachment for ventricular septal defect closure: A meta-analysis of existing evidence. 62
36378918 2022
49
Swiss Evaluation Registry for Pediatric Infective Endocarditis (SERPIE) - Risk factors for complications in children and adolescents with infective endocarditis. 62
36334644 2022
50
A de novo partial trisomy 9p with Dandy-Walker malformation and ventriculomegaly. 62
36427979 2022

Variations for Ventricular Septal Defect

ClinVar genetic disease variations for Ventricular Septal Defect:

5 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX5 NM_181486.4(TBX5):c.1221C>G (p.Tyr407Ter) SNV Pathogenic
495227 rs1555223259 GRCh37: 12:114793673-114793673
GRCh38: 12:114355868-114355868
2 overlap with 7 genes GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138) CN LOSS Pathogenic
638672 GRCh37: 22:22971867-23643138
GRCh38:
3 overlap with 34 genes COMPLEX Pathogenic
638670 GRCh37: 15:22676913-30137106
GRCh38:
4 FOXP4 NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr) SNV Pathogenic
1472670 GRCh37: 6:41562611-41562611
GRCh38: 6:41594873-41594873
5 AAR2 NM_001271874.2(AAR2):c.520G>A (p.Val174Met) SNV Likely Pathogenic
242897 rs746800707 GRCh37: 20:34828310-34828310
GRCh38: 20:36240388-36240388
6 SMARCA4 NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His) SNV Likely Pathogenic
816865 rs1085307769 GRCh37: 19:11134234-11134234
GRCh38: 19:11023558-11023558
7 FOXF1 NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr) SNV Likely Pathogenic
374061 rs1057518868 GRCh37: 16:86544455-86544455
GRCh38: 16:86510849-86510849
8 overlap with 61 genes GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) DEL Likely Pathogenic
208506 GRCh37: 14:73152115-77698582
GRCh38:
9 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly) SNV Likely Pathogenic
374121 rs1057518914 GRCh37: X:20211665-20211665
GRCh38: X:20193547-20193547
10 FOXP4 NM_001012426.2(FOXP4):c.815del (p.Leu272fs) DEL Likely Pathogenic
242887 rs1114167294 GRCh37: 6:41555193-41555193
GRCh38: 6:41587455-41587455
11 BRAF NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) SNV Likely Pathogenic
13978 rs180177039 GRCh37: 7:140477806-140477806
GRCh38: 7:140778006-140778006
12 ASXL3 NM_030632.3(ASXL3):c.1354G>A (p.Glu452Lys) SNV Uncertain Significance
917519 rs2067593629 GRCh37: 18:31318722-31318722
GRCh38: 18:33738758-33738758
13 COL1A2 NM_000089.4(COL1A2):c.280-7T>C SNV Uncertain Significance
978557 rs750868020 GRCh37: 7:94033861-94033861
GRCh38: 7:94404549-94404549
14 FBN2 NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) SNV Uncertain Significance
978558 rs1765343397 GRCh37: 5:127610307-127610307
GRCh38: 5:128274615-128274615
15 OBSL1 NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys) SNV Uncertain Significance
598981 rs749541061 GRCh37: 2:220424193-220424193
GRCh38: 2:219559471-219559471
16 OBSL1 NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) SNV Uncertain Significance
598982 rs560246798 GRCh37: 2:220423067-220423067
GRCh38: 2:219558345-219558345
17 GATA4 NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro) SNV Uncertain Significance
599008 rs773545065 GRCh37: 8:11565915-11565915
GRCh38: 8:11708406-11708406
18 RYR1 NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) SNV Uncertain Significance
133221 rs193922829 GRCh37: 19:38995701-38995701
GRCh38: 19:38505061-38505061
19 FLNA NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) SNV Uncertain Significance
617640 rs781928289 GRCh37: X:153588145-153588145
GRCh38: X:154359777-154359777
20 ERF NM_006494.4(ERF):c.1636C>T (p.Arg546Ter) SNV Uncertain Significance
599007 rs764412749 GRCh37: 19:42752628-42752628
GRCh38: 19:42248476-42248476
21 FLVCR2 GRCh37/hg19 14q24.3(chr14:76105695-76107636) CN LOSS Uncertain Significance
523310 GRCh37: 14:76105695-76107636
GRCh38:
22 LRP1 NM_002332.3(LRP1):c.1576C>G (p.Leu526Val) SNV Uncertain Significance
816915 rs770169648 GRCh37: 12:57552199-57552199
GRCh38: 12:57158416-57158416
23 LRP1 NM_002332.3(LRP1):c.13559C>G (p.Ser4520Cys) SNV Uncertain Significance
816916 rs1396150729 GRCh37: 12:57606262-57606262
GRCh38: 12:57212479-57212479
24 HUWE1 NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro) SNV Uncertain Significance
523539 rs1556948950 GRCh37: X:53596615-53596615
GRCh38: X:53569655-53569655
25 MYCN NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu) SNV Uncertain Significance
523483 rs1553371013 GRCh37: 2:16086050-16086050
GRCh38: 2:15945928-15945928
26 overlap with 5 genes GRCh37/hg19 15q26.3(chr15:100923767-101626187) CN LOSS Uncertain Significance
638671 GRCh37: 15:100923767-101626187
GRCh38:
27 LONP1 NM_004793.4(LONP1):c.296G>A (p.Gly99Asp) SNV Uncertain Significance
722777 rs747867148 GRCh37: 19:5719848-5719848
GRCh38: 19:5719837-5719837
28 DPH2 NM_001384.5(DPH2):c.922C>T (p.Gln308Ter) SNV Uncertain Significance
872918 rs755058688 GRCh37: 1:44437496-44437496
GRCh38: 1:43971824-43971824
29 DPH2 NM_001384.5(DPH2):c.601C>T (p.Arg201Cys) SNV Uncertain Significance
872919 rs767455462 GRCh37: 1:44437175-44437175
GRCh38: 1:43971503-43971503
30 CHD7 NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) SNV Uncertain Significance
158308 rs201083157 GRCh37: 8:61765534-61765534
GRCh38: 8:60852975-60852975
31 SMARCA4 NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile) SNV Likely Benign
374051 rs1057518862 GRCh37: 19:11101938-11101938
GRCh38: 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 chromatin GO:0000785 9.62 ZFPM2 TBX5 SMARCA4 NKX2-5 GATA6 GATA5

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.53 CITED2 FOXF1 FOXP4 GATA4 GATA5 GATA6
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.51 CITED2 FOXF1 FOXP4 GATA4 GATA5 GATA6
3 regulation of DNA-templated transcription GO:0006355 10.3 TBX5 SMARCA4 NKX2-5 GATA6 GATA5 GATA4
4 cell differentiation GO:0030154 10.3 BRAF CITED2 GATA4 GATA5 GATA6 NKX2-5
5 positive regulation of DNA-templated transcription GO:0045893 10.28 CITED2 FOXF1 GATA4 GATA5 GATA6 NKX2-5
6 positive regulation of transcription by RNA polymerase II GO:0045944 10.27 CITED2 FOXF1 GATA4 GATA5 GATA6 JAG1
7 in utero embryonic development GO:0001701 10.24 ZFPM2 NODAL GATA6 FOXF1 CITED2
8 vasculogenesis GO:0001570 10.18 ZFPM2 NKX2-5 FOXF1 CITED2
9 lung development GO:0030324 10.18 ZIC3 ZFPM2 TBX5 NODAL FOXF1
10 ventricular septum morphogenesis GO:0060412 10.14 CITED2 NKX2-5 ZFPM2
11 determination of left/right symmetry GO:0007368 10.14 ZIC3 NODAL FOXF1 CITED2
12 cell fate commitment GO:0045165 10.13 GATA4 GATA5 GATA6 NODAL
13 positive regulation of cardiac muscle cell proliferation GO:0060045 10.11 GATA6 TBX5 ZFPM2
14 outflow tract septum morphogenesis GO:0003148 10.1 ZFPM2 NKX2-5 GATA6
15 cardiac muscle cell proliferation GO:0060038 10.1 TBX5 NKX2-5 GATA6
16 aortic valve morphogenesis GO:0003180 10.1 NKX2-5 JAG1 GATA5 GATA4
17 heart looping GO:0001947 10.07 CITED2 GATA4 NKX2-5 NODAL ZIC3
18 ventricular septum development GO:0003281 10.04 TBX5 GATA4 CITED2
19 atrial septum morphogenesis GO:0060413 10.04 TBX5 NKX2-5 GATA4
20 intestinal epithelial cell differentiation GO:0060575 10.01 GATA6 GATA5 GATA4
21 atrioventricular canal development GO:0036302 10 GATA6 GATA4
22 embryonic foregut morphogenesis GO:0048617 9.99 GATA4 FOXF1
23 sinoatrial node development GO:0003163 9.99 GATA6 TBX5
24 positive regulation of male gonad development GO:2000020 9.98 CITED2 ZFPM2
25 embryonic process involved in female pregnancy GO:0060136 9.98 NODAL CITED2
26 anatomical structure morphogenesis GO:0009653 9.98 ZFPM2 GATA6 GATA5 GATA4
27 pulmonary artery morphogenesis GO:0061156 9.97 JAG1 CITED2
28 embryonic heart tube left/right pattern formation GO:0060971 9.97 NKX2-5 CITED2
29 inhibition of neuroepithelial cell differentiation GO:0002085 9.96 JAG1 NODAL
30 atrioventricular node cell development GO:0060928 9.96 TBX5 NKX2-5
31 atrial cardiac muscle tissue development GO:0003228 9.96 ZIC3 NKX2-5
32 bundle of His development GO:0003166 9.95 TBX5 NKX2-5
33 atrioventricular node development GO:0003162 9.95 GATA4 GATA6 NKX2-5
34 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.94 NODAL CITED2
35 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.92 NKX2-5 ZFPM2
36 atrioventricular node cell fate commitment GO:0060929 9.91 NKX2-5 TBX5
37 cardiac muscle cell differentiation GO:0055007 9.91 TBX5 NKX2-5 GATA6 GATA4
38 primitive streak formation GO:0090009 9.87 ZIC3 NODAL
39 cardiac ventricle morphogenesis GO:0003208 9.87 NKX2-5 GATA4
40 left/right pattern formation GO:0060972 9.86 ZIC3 CITED2
41 endocardial cushion development GO:0003197 9.86 TBX5 GATA4 FOXF1 CITED2
42 cardiac muscle tissue development GO:0048738 9.8 ZFPM2 NKX2-5 GATA6 GATA5
43 animal organ development GO:0048513 9.76 ZFPM2 JAG1 GATA6 GATA4
44 system development GO:0048731 9.72 ZFPM2 GATA6 GATA4
45 positive regulation of cardioblast differentiation GO:0051891 9.56 TBX5 NKX2-5 GATA6 GATA4
46 heart development GO:0007507 9.44 ZIC3 ZFPM2 TBX5 NODAL NKX2-5 GATA5

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.34 ZIC3 TBX5 NKX2-5 GATA6 GATA5 GATA4
2 DNA binding GO:0003677 10.22 ZIC3 ZFPM2 TBX5 SMARCA4 NKX2-5 GATA6
3 DNA-binding transcription factor activity GO:0003700 10 ZIC3 TBX5 NKX2-5 GATA6 GATA5 GATA4
4 transcription cis-regulatory region binding GO:0000976 9.91 FOXF1 GATA4 GATA5 GATA6 NKX2-5
5 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.7 CITED2 GATA4 GATA6 NKX2-5 TBX5 ZFPM2
6 NFAT protein binding GO:0051525 9.67 GATA4 GATA6
7 cis-regulatory region sequence-specific DNA binding GO:0000987 9.58 GATA6 GATA5 GATA4
8 sequence-specific DNA binding GO:0043565 9.44 ZIC3 TBX5 NKX2-5 GATA6 GATA5 GATA4

Sources for Ventricular Septal Defect

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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