Ventricular Septal Defect

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

Aliases & Classifications for Ventricular Septal Defect

MalaCards integrated aliases for Ventricular Septal Defect:

Name: Ventricular Septal Defect 12 73 36 29 6 15 32
Ventricular Septal Defects 20 54 15
Heart Septal Defects, Ventricular 20 44
Interventricular Septal Defect 12
Ventricular Septal Abnormality 12
Septal, Ventricular Defect 39


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Disease Ontology 12 DOID:1657
KEGG 36 H01926
ICD9CM 34 745.4
MeSH 44 D006345
NCIt 50 C84506
SNOMED-CT 67 156914003
ICD10 32 Q21.0
UMLS 70 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 heart septal defect. An important gene associated with Ventricular Septal Defect is TBX5 (T-Box Transcription Factor 5), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Neurotransmitter Agents and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and lung, and related phenotypes are cardiovascular system and embryo

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

Wikipedia : 73 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 508)
# Related Disease Score Top Affiliating Genes
1 conotruncal heart malformations 32.5 ZFPM2 NKX2-5 GATA6
2 heart septal defect 32.4 ZIC3 ZFPM2 TBX5 NKX2-5 JAG1 ISL1
3 congenital heart defects, multiple types, 4 32.3 GATA6 GATA4
4 right atrial isomerism 32.3 ZIC3 TBX5 NKX2-5 CITED2
5 tricuspid atresia 32.2 ZIC3 ZFPM2 TBX5 NKX2-5 HAND2 GATA6
6 tetralogy of fallot 32.2 ZIC3 ZFPM2 TBX5 NPPB NKX2-5 JAG1
7 alagille syndrome 1 32.2 TBX5 NKX2-5 JAG1
8 holt-oram syndrome 32.2 ZIC3 TBX5 NKX2-5 MYH7 HAND2 GATA4
9 double outlet right ventricle 32.1 ZIC3 ZFPM2 TBX5 NKX2-5 ISL1 HAND2
10 dextro-looped transposition of the great arteries 32.1 ZIC3 TBX5 NPPB NKX2-5 GATA4
11 atrioventricular block 31.9 TBX5 NPPB NKX2-5 MYH7 GATA4
12 mitral valve insufficiency 31.7 TBX5 NPPB MYH7
13 pulmonic stenosis 31.4 JAG1 BRAF
14 patent ductus arteriosus 1 31.4 ZIC3 ZFPM2 TBX5 NPPB NKX2-5 JAG1
15 pulmonary valve stenosis 31.2 ZIC3 TBX5 NKX2-5 JAG1 GATA4 BRAF
16 aortic valve disease 2 31.1 TBX5 NPPB NKX2-5 MYH7 GATA4
17 left ventricular noncompaction 30.9 TBX5 NKX2-5 MYH7 JAG1 GATA4
18 total anomalous pulmonary venous return 1 30.9 ZIC3 TBX5 NKX2-5 GATA4
19 hypertrophic cardiomyopathy 30.8 NPPB NKX2-5 MYH7 GATA6 GATA4 BRAF
20 atrioventricular septal defect 30.7 ZIC3 ZFPM2 TBX5 NKX2-5 ISL1 HAND2
21 digeorge syndrome 30.7 TBX5 NKX2-5 ISL1 HAND2 GATA4
22 aortic valve disease 1 30.7 TBX5 NKX2-5 JAG1 ISL1 GATA6 GATA4
23 atrial heart septal defect 30.7 ZIC3 ZFPM2 TBX5 SMARCA4 NPPB NKX2-5
24 velocardiofacial syndrome 30.7 TBX5 NKX2-5 GATA4
25 patent foramen ovale 30.6 ZIC3 ZFPM2 TBX5 NPPB NKX2-5 HAND2
26 wolff-parkinson-white syndrome 30.6 NPPB NKX2-5 MYH7 JAG1
27 diaphragmatic hernia, congenital 30.5 ZFPM2 TBX5 GATA6 GATA4 FOXF1
28 ebstein anomaly 30.5 ZFPM2 TBX5 NKX2-5 MYH7 HAND2 GATA4
29 atrial septal defect 2 30.5 TBX5 NKX2-5 GATA4
30 atypical coarctation of aorta 30.5 JAG1 GATA6
31 jacobsen syndrome 30.5 ZIC3 TBX5 NKX2-5 GATA4
32 ulnar-mammary syndrome 30.3 TBX5 NKX2-5 HAND2
33 lipoprotein quantitative trait locus 30.2 ZFPM2 TBX5 NPPB NKX2-5 MYH7 ISL1
34 heart disease 30.0 ZIC3 TBX5 SMARCA4 NPPB NKX2-5 MYH7
35 dilated cardiomyopathy 30.0 TBX5 NPPB NKX2-5 MYH7 ISL1 HAND2
36 hypoplastic left heart syndrome 29.7 ZIC3 ZFPM2 TBX5 NPPB NKX2-5 JAG1
37 pulmonary atresia with ventricular septal defect 11.9
38 ventricular septal defect 2 11.8
39 ventricular septal defect 3 11.8
40 ventricular septal defect 1 11.8
41 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 11.4
42 aortic arch interruption 11.3
43 laubry-pezzi syndrome 11.3
44 subvalvular aortic stenosis 11.3
45 microphthalmia, syndromic 2 11.3
46 heterotaxy, visceral, 1, x-linked 11.3
47 congenital heart defects, multiple types, 6 11.3
48 coffin-siris syndrome 10 11.3
49 congenital heart defects and skeletal malformations syndrome 11.3
50 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.3

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

Diseases related to Ventricular Septal Defect

Symptoms & Phenotypes for Ventricular Septal Defect

MGI Mouse Phenotypes related to Ventricular Septal Defect:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.48 BRAF CITED2 FOXF1 FOXP4 GATA4 GATA6
2 embryo MP:0005380 10.35 BRAF CITED2 FOXF1 FOXP4 GATA4 GATA6
3 digestive/alimentary MP:0005381 10.33 BRAF CITED2 FOXF1 FOXP4 GATA4 HAND2
4 growth/size/body region MP:0005378 10.32 BRAF CITED2 FOXF1 GATA4 GATA6 HAND2
5 homeostasis/metabolism MP:0005376 10.32 BRAF CITED2 FOXP4 GATA4 GATA6 HAND2
6 cellular MP:0005384 10.31 BRAF FOXF1 GATA4 GATA6 HAND2 ISL1
7 mortality/aging MP:0010768 10.28 BRAF CITED2 FOXF1 FOXP4 GATA4 GATA6
8 endocrine/exocrine gland MP:0005379 10.26 BRAF CITED2 FOXF1 GATA4 HAND2 ISL1
9 craniofacial MP:0005382 10.21 BRAF CITED2 HAND2 ISL1 JAG1 NKX2-5
10 muscle MP:0005369 10.18 BRAF FOXF1 GATA4 GATA6 HAND2 ISL1
11 liver/biliary system MP:0005370 10.13 BRAF FOXF1 GATA4 GATA6 HAND2 JAG1
12 limbs/digits/tail MP:0005371 10.11 BRAF CITED2 GATA4 GATA6 HAND2 ISL1
13 nervous system MP:0003631 10.06 BRAF CITED2 FOXP4 GATA4 HAND2 ISL1
14 hearing/vestibular/ear MP:0005377 9.97 BRAF HAND2 ISL1 JAG1 RPS6KA3 ZIC3
15 normal MP:0002873 9.97 BRAF CITED2 GATA4 GATA6 HAND2 ISL1
16 no phenotypic analysis MP:0003012 9.86 GATA4 HAND2 ISL1 JAG1 MYH7 NKX2-5
17 respiratory system MP:0005388 9.7 BRAF CITED2 FOXF1 FOXP4 GATA4 GATA6
18 skeleton MP:0005390 9.32 BRAF CITED2 GATA4 HAND2 ISL1 JAG1

Drugs & Therapeutics for Ventricular Septal Defect

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

(show top 50) (show all 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neurotransmitter Agents Phase 4
2 Respiratory System Agents Phase 4
3 Anti-Asthmatic Agents Phase 4
4 Adrenergic beta-Agonists Phase 4
5 Adrenergic Agents Phase 4
6 Adrenergic Agonists Phase 4
7 Tocolytic Agents Phase 4
8 Albuterol Phase 4
9 Bronchodilator Agents Phase 4
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
Enalaprilat Approved Phase 3 76420-72-9 6917719
12 Angiotensin-Converting Enzyme Inhibitors Phase 3
13 Antihypertensive Agents Phase 3
14 HIV Protease Inhibitors Phase 3
protease inhibitors Phase 3
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
22 Analgesics, Non-Narcotic Phase 2
23 Analgesics Phase 2
24 Narcotics Phase 2
25 Anesthetics, General Phase 2
26 Anesthetics, Intravenous Phase 2
27 Analgesics, Opioid Phase 2
28 Excitatory Amino Acid Antagonists Phase 2
29 Anesthetics, Dissociative Phase 2
30 Vasodilator Agents Phase 1, Phase 2
31 Cardiotonic Agents Phase 1, Phase 2
32 Citrate Phase 1, Phase 2
33 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
34 Phosphodiesterase Inhibitors Phase 1, Phase 2
35 Platelet Aggregation Inhibitors Phase 1, Phase 2
36 Protective Agents Phase 1, Phase 2
37 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
38 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
39 Adrenergic alpha-Agonists Phase 2
40 Chelating Agents Phase 2
41 Hypnotics and Sedatives Phase 2
42 Anticoagulants Phase 2
43 Calcium, Dietary Phase 2
44 Dextrans Phase 2
45 Plasma Substitutes Phase 2
46 Blood Substitutes Phase 2
47 Pharmaceutical Solutions Phase 2
Calcium Nutraceutical Phase 2 7440-70-2 271
Acetaminophen Approved 103-90-2 1983
Isoflurane Approved, Vet_approved 26675-46-7 3763

Interventional clinical trials:

(show all 47)
# 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 Trial of ACE Inhibition in Children With Mitral Regurgitation After Repair of AVSD Terminated NCT00113698 Phase 3 Enalapril
5 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
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 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
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 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
10 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Recruiting NCT04017975 Phase 2 Fluorescite
11 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
12 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
13 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
14 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
15 Changes in Ventricular Remodeling and Exercise Cardiopulmonary Function After Transcatheter Closure of Ventricular Septal Defect Unknown status NCT03127748
16 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
17 Random, Controlled, Single-blinded, Multi-center and Non-inferiority Clinical Study to Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Unknown status NCT03176225
18 Clinical Evaluation of Transcatheter Closure and Surgery of Perimembranous Ventricular Septal Defects Completed NCT00890799
19 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832
20 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
21 Does Preoperative Acetaminophen Reduce Biochemical Markers of Oxidative Stress From Cardiopulmonary Bypass? Completed NCT01228305
22 Precision Assessment of Perioperative Effectiveness and Safety of Transthoracic Minimally Invasive Hybrid Closure for Pediatric Ventricular Septal Defects Completed NCT02794584 sufentanil anesthesia
23 Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect Completed NCT02861963
24 Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect Completed NCT03684161
25 Cardiac Output During Exercise in Young Adults Operated for Ventricular Septal Defect as Children Completed NCT02138435
26 Closure of Muscular Ventricular Septal Defects With The AMPLATZER™ Muscular VSD Occluder Completed NCT00583791
27 Mechanical Complications of Acute Myocardial Infarction: an International Multicenter Cohort Study (CAUTION Study 1) Completed NCT03848429
28 Ad Hoc Analysis for the Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With a Closed Ventricular Septal Defect Completed NCT02648984
29 Postoperative Right Bundle Branch Block - Long-term Effect on the Right Ventricle in Children Operated for Ventricular Septal Defect Completed NCT01480908
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 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 Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up. Completed NCT02552485
33 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
34 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
35 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
36 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
37 Lifetech KONAR-MF™ VSD Occluder Post-Market Clinical Follow-Up Study Clinical Investigation Plan Recruiting NCT04417712
38 Chinese Academy of Medical Sciences, Fuwai Hospital Recruiting NCT03941691
39 The AMPLATZER™ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) Post Approval Study Recruiting NCT03165526
40 French Observatory of Congenital Ventricular Septal Defect With Pulmonary Overload Recruiting NCT03363932
41 Amplatzer™ Trevisio™ Delivery System Post-Approval Study Recruiting NCT04433520
42 Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX) Recruiting NCT04452188
43 Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study Active, not recruiting NCT00647387
44 Prospective, Non-randomised, Open Label Clinical Study to Assess the Safety of the Bioabsorbable Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract (RVOT) Reconstruction Active, not recruiting NCT02700100
45 Improving Care for Children With Congenital Heart Disease by Cardiovascular Biomarker Profiling and Advanced Non-invasive Cardiac Imaging Techniques. Enrolling by invitation NCT04667455
46 Optimal Timing for Repair of Left-to-Right Shunt Lesions Terminated NCT00229827
47 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 29

Anatomical Context for Ventricular Septal Defect

MalaCards organs/tissues related to Ventricular Septal Defect:

Heart, Brain, Lung, Kidney, Endothelial, Skin, Smooth Muscle

Publications for Ventricular Septal Defect

Articles related to Ventricular Septal Defect:

(show top 50) (show all 13285)
# Title Authors PMID Year
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 6
29555671 2018
Familial transposition of the great arteries caused by multiple mutations in laterality genes. 54 61
19933292 2010
GATA4 mutations in Chinese patients with congenital cardiac septal defects. 61 54
19915893 2010
B-type natriuretic peptide and heart failure in patients with ventricular septal defect: a pilot study. 61 54
19636481 2009
[Novel NKX2-5 mutations identified in patients with congenital ventricular septal defects]. 61 54
20137692 2009
GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease. 61 54
19302747 2009
Association of TBX5 gene polymorphism with ventricular septal defect in the Chinese Han population. 61 54
19187613 2009
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
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
Brain natriuretic peptide levels before and after ventricular septal defect repair. 54 61
18036937 2007
Plasma brain natriuretic peptide and systemic ventricular function in asymptomatic patients late after the Fontan procedure. 61 54
18043998 2007
Correlation of plasma B-type natriuretic peptide with shunt severity in patients with atrial or ventricular septal defect. 54 61
17530321 2007
Relationship between pericardial fluid B-type natriuretic peptide and ventricular structure and function. 61 54
17350484 2007
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
Clinical implication of plasma natriuretic peptides in children with ventricular septal defect. 54 61
12828576 2003
Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice. 54 61
12372254 2002
Prenatal diagnosis of aortic arch anomalies: Echocardiography, 3D-ultrasonography, and computed tomography angiogram findings. A case-report. 61
33037630 2021
Prenatal diagnosis of congenital heart defects: experience of the first Fetal Cardiology Unit in Mexico. 61
31257961 2021
Exposure to air pollutants and risk of congenital anomalies: A systematic review and metaanalysis. 61
33183823 2021
Preoperative level of neutrophil-lymphocyte ratio: Comparison between cyanotic and acyanotic congenital heart disease. 61
33567123 2021
Long-Term Survival and Causes of Death in Children with Trisomy 21 After Congenital Heart Surgery. 61
33359302 2021
Supravalvar aortic stenosis: Imaging characteristics and associations on multidetector computed tomography angiography. 61
33590497 2021
A Case Report of Donnai-Barrow Syndrome. 61
32657950 2021
Automated interpretation of congenital heart disease from multi-view echocardiograms. 61
33418465 2021
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature. 61
33811726 2021
Coadministration of ARV (Atripla) and Topiramate disrupts quail cardiac neural crest cell migration. 61
33484098 2021
Evaluation of Three Different Techniques for the Closure of Ventricular Septal Defects. 61
31588823 2021
Effects of repairing ventricular septal defects with right vertical infra-axillary mini-incision on lung function and postoperative analgosedation. 61
33717245 2021
Upper mini sternotomy approach for pulmonary artery banding: A single centre experience. 61
33797797 2021
Trans-ventricular catheter device-based closure of postmyocardial infarction ventricular septal defect following coronary artery bypass grafting: A staged hybrid approach. 61
33502796 2021
Hirudotherapy for neonatal limb ischemia during ECMO support: A word of caution. 61
33811665 2021
Technical Performance Score's Association With Arterial Switch Operation Outcomes. 61
32603709 2021
Multimodality Evaluation of a Septal Cystic Cavity and Ventricular Septal Defect in the Setting of Neurocysticercosis and Endocarditis. 61
33794648 2021
Transthoracic Device Closure, Transcatheter Device Closure, and Surgical Repair via Right Submammary Thoracotomy for Restrictive Ventricular Septal Defect, a Respective Comparative Study. 61
31366250 2021
Edge-to-Edge Repair Versus Secondary Cord Cutting During Septal Myectomy in Patients With Hypertrophic Obstructive Cardiomyopathy: A Pilot Randomised Study. 61
32718898 2021
Fate of the Arterial Origin of Major Aortopulmonary Collateral Arteries After Unifocalization. 61
33684007 2021
Spectrum of postmortem autopsy findings in native and surgically corrected hearts with congenital malformations: a 10-year single-center experience. 61
33189923 2021
Abnormal Left-Hemispheric Sulcal Patterns in Adults With Simple Congenital Heart Defects Repaired in Childhood. 61
33745293 2021
Development of a biventricular conversion program: A new paradigm. 61
33783014 2021
Hybrid Subxiphoid Perventricular Approach as an Alternative Access in Neonates and Small Children Undergoing Complex Congenital Heart Interventions. 61
33263794 2021
Single collateral artery from descending thoracic aorta supplying pulmonary circulation-Computed tomography and echocardiographic images. 61
33599343 2021
Pitfalls in surgical repair of Fallot's tetralogy: The "ventricular subaortic pouch". 61
33682967 2021
Prenatal Diagnosis of Double Aortic Arch: Associated Findings and Postnatal Clinical Outcomes. 61
33656187 2021
Percutaneous closure of iatrogenic VSD and paravalvular leak: Two complications of TAVR. 61
33773926 2021
Long-term results of tricuspid reconstruction with pericardium in an infant. 61
32926389 2021
Cardiac point of care ultrasound in resource limited settings to manage children with congenital and acquired heart disease. 61
33682650 2021
Trends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20-year period. 61
33683014 2021
Transthoracic echocardiography and its limitations in the diagnosis of congenital supernumerary aortic valve in a Thoroughbred. 61
33713550 2021
Impact of prenatal screening on congenital heart defects in neonates with Down syndrome in the US. 61
33674738 2021
Levosimendan Versus Milrinone and Release of Myocardial Biomarkers After Pediatric Cardiac Surgery: Post Hoc Analysis of Clinical Trial Data. 61
33739957 2021

Variations for Ventricular Septal Defect

ClinVar genetic disease variations for Ventricular Septal Defect:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX5 NM_000192.3(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) copy number loss Pathogenic 638672 GRCh37: 22:22971867-23643138
3 overlap with 34 genes Complex Pathogenic 638670 GRCh37: 15:22676913-30137106
4 BRAF NM_001374258.1(BRAF):c.1622A>G (p.Glu541Gly) SNV Likely pathogenic 13978 rs180177039 GRCh37: 7:140477806-140477806
GRCh38: 7:140778006-140778006
5 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly) SNV Likely pathogenic 374121 rs1057518914 GRCh37: X:20211665-20211665
GRCh38: X:20193547-20193547
6 SMARCA4 NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His) SNV Likely pathogenic 816865 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 AAR2 NM_001271874.2(AAR2):c.520G>A (p.Val174Met) SNV Likely pathogenic 242897 rs746800707 GRCh37: 20:34828310-34828310
GRCh38: 20:36240388-36240388
9 overlap with 61 genes GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) Deletion Likely pathogenic 208506 GRCh37: 14:73152115-77698582
10 FOXP4 NM_138457.3(FOXP4):c.812del (p.Leu271fs) Deletion Likely pathogenic 242887 rs1114167294 GRCh37: 6:41555193-41555193
GRCh38: 6:41587455-41587455
11 FLVCR2 GRCh37/hg19 14q24.3(chr14:76105695-76107636) copy number loss Uncertain significance 523310 GRCh37: 14:76105695-76107636
12 overlap with 5 genes GRCh37/hg19 15q26.3(chr15:100923767-101626187) copy number loss Uncertain significance 638671 GRCh37: 15:100923767-101626187
13 DPH2 NM_001384.5(DPH2):c.601C>T (p.Arg201Cys) SNV Uncertain significance 872919 GRCh37:
14 DPH2 NM_001384.5(DPH2):c.922C>T (p.Gln308Ter) SNV Uncertain significance 872918 GRCh37:
15 COL1A2 NM_000089.4(COL1A2):c.280-7T>C SNV Uncertain significance 978557 GRCh37: 7:94033861-94033861
GRCh38: 7:94404549-94404549
16 FBN2 NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) SNV Uncertain significance 978558 GRCh37: 5:127610307-127610307
GRCh38: 5:128274615-128274615
17 CHD7 NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) SNV Uncertain significance 158308 rs201083157 GRCh37: 8:61765534-61765534
GRCh38: 8:60852975-60852975
18 LONP1 NM_004793.4(LONP1):c.296G>A (p.Gly99Asp) SNV Uncertain significance 722777 rs747867148 GRCh37: 19:5719848-5719848
GRCh38: 19:5719837-5719837
19 MYCN NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu) SNV Uncertain significance 523483 rs1553371013 GRCh37: 2:16086050-16086050
GRCh38: 2:15945928-15945928
20 HUWE1 NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro) SNV Uncertain significance 523539 rs1556948950 GRCh37: X:53596615-53596615
GRCh38: X:53569655-53569655
21 OBSL1 NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys) SNV Uncertain significance 598981 rs749541061 GRCh37: 2:220424193-220424193
GRCh38: 2:219559471-219559471
22 OBSL1 NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) SNV Uncertain significance 598982 rs560246798 GRCh37: 2:220423067-220423067
GRCh38: 2:219558345-219558345
23 RYR1 NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) SNV Uncertain significance 133221 rs193922829 GRCh37: 19:38995701-38995701
GRCh38: 19:38505061-38505061
24 ERF NM_006494.4(ERF):c.1636C>T (p.Arg546Ter) SNV Uncertain significance 599007 rs764412749 GRCh37: 19:42752628-42752628
GRCh38: 19:42248476-42248476
25 GATA4 NM_002052.5(GATA4):c.94G>C (p.Ala32Pro) SNV Uncertain significance 599008 rs773545065 GRCh37: 8:11565915-11565915
GRCh38: 8:11708406-11708406
26 FLNA NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) SNV Uncertain significance 617640 rs781928289 GRCh37: X:153588145-153588145
GRCh38: X:154359777-154359777
27 LRP1 NM_002332.3(LRP1):c.1576C>G (p.Leu526Val) SNV Uncertain significance 816915 rs770169648 GRCh37: 12:57552199-57552199
GRCh38: 12:57158416-57158416
28 LRP1 NM_002332.3(LRP1):c.13559C>G (p.Ser4520Cys) SNV Uncertain significance 816916 rs1396150729 GRCh37: 12:57606262-57606262
GRCh38: 12:57212479-57212479
29 ASXL3 NM_030632.3(ASXL3):c.1354G>A (p.Glu452Lys) SNV Uncertain significance 917519 GRCh37: 18:31318722-31318722
GRCh38: 18:33738758-33738758
30 SMARCA4 NM_001128849.2(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 nucleus GO:0005634 9.83 ZIC3 ZFPM2 TBX5 SMARCA4 RPS6KA3 NPPB
2 protein-containing complex GO:0032991 9.63 TBX5 SMARCA4 NPPB NKX2-5 HAND2 CITED2
3 transcription factor complex GO:0005667 9.56 NKX2-5 HAND2 GATA6 FOXF1
4 chromatin GO:0000785 9.36 ZFPM2 TBX5 SMARCA4 NKX2-5 ISL1 HAND2

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.2 ZIC3 TBX5 NKX2-5 JAG1 ISL1 HAND2
2 regulation of transcription, DNA-templated GO:0006355 10.19 TBX5 SMARCA4 NKX2-5 ISL1 HAND2 GATA6
3 cell differentiation GO:0030154 10.18 ZIC3 ZFPM2 NKX2-5 ISL1 HAND2 CITED2
4 regulation of transcription by RNA polymerase II GO:0006357 10.15 ZIC3 ZFPM2 TBX5 SMARCA4 NKX2-5 ISL1
5 negative regulation of transcription by RNA polymerase II GO:0000122 10.13 ZFPM2 SMARCA4 NKX2-5 ISL1 GATA6 FOXP4
6 negative regulation of transcription, DNA-templated GO:0045892 10.08 ZFPM2 SMARCA4 NKX2-5 GATA6 CITED2
7 negative regulation of apoptotic process GO:0043066 10.08 RPS6KA3 NKX2-5 HAND2 GATA6 CITED2 BRAF
8 in utero embryonic development GO:0001701 9.96 ZFPM2 HAND2 GATA6 FOXF1 CITED2
9 heart development GO:0007507 9.95 ZFPM2 TBX5 NKX2-5 ISL1 HAND2 FOXF1
10 male gonad development GO:0008584 9.87 GATA6 GATA4 CITED2
11 lung development GO:0030324 9.87 ZIC3 ZFPM2 TBX5 FOXF1
12 determination of left/right symmetry GO:0007368 9.85 ZIC3 FOXF1 CITED2
13 positive regulation of transcription, DNA-templated GO:0045893 9.85 ZIC3 ZFPM2 TBX5 SMARCA4 NKX2-5 HAND2
14 vasculogenesis GO:0001570 9.84 ZFPM2 NKX2-5 FOXF1 CITED2
15 heart looping GO:0001947 9.83 ZIC3 NKX2-5 HAND2 GATA4 CITED2
16 heart morphogenesis GO:0003007 9.82 NKX2-5 ISL1 HAND2
17 thymus development GO:0048538 9.82 HAND2 CITED2 BRAF
18 positive regulation of cardiac muscle cell proliferation GO:0060045 9.8 ZFPM2 TBX5 GATA6
19 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.79 NKX2-5 HAND2 GATA4
20 ventricular septum development GO:0003281 9.79 TBX5 GATA4 CITED2
21 outflow tract septum morphogenesis GO:0003148 9.78 ZFPM2 NKX2-5 ISL1 GATA6
22 ventricular septum morphogenesis GO:0060412 9.77 ZFPM2 NKX2-5 CITED2
23 aortic valve morphogenesis GO:0003180 9.77 NKX2-5 JAG1 GATA4
24 pancreas development GO:0031016 9.76 ISL1 GATA6 FOXF1
25 cardiac muscle cell differentiation GO:0055007 9.76 TBX5 NKX2-5 GATA6 GATA4
26 cardiac right ventricle morphogenesis GO:0003215 9.72 JAG1 ISL1 GATA4
27 pharyngeal system development GO:0060037 9.69 NKX2-5 ISL1
28 smooth muscle cell differentiation GO:0051145 9.69 GATA6 FOXF1
29 adult heart development GO:0007512 9.69 NKX2-5 MYH7 HAND2
30 cardiac septum morphogenesis GO:0060411 9.68 JAG1 CITED2
31 cardiac muscle hypertrophy in response to stress GO:0014898 9.68 MYH7 GATA6
32 peripheral nervous system neuron development GO:0048935 9.68 ISL1 HAND2
33 positive regulation of male gonad development GO:2000020 9.67 ZFPM2 CITED2
34 intestinal epithelial cell differentiation GO:0060575 9.67 GATA6 GATA4
35 determination of heart left/right asymmetry GO:0061371 9.66 HAND2 CITED2
36 embryonic foregut morphogenesis GO:0048617 9.66 GATA4 FOXF1
37 pulmonary artery morphogenesis GO:0061156 9.65 JAG1 CITED2
38 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.63 JAG1 HAND2
39 regulation of secondary heart field cardioblast proliferation GO:0003266 9.63 ISL1 HAND2
40 atrial septum morphogenesis GO:0060413 9.62 TBX5 NKX2-5 ISL1 GATA4
41 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.58 ZFPM2 NKX2-5
42 endocardial cushion development GO:0003197 9.56 TBX5 GATA4 FOXF1 CITED2
43 positive regulation of transcription by RNA polymerase II GO:0045944 9.44 ZIC3 ZFPM2 TBX5 SMARCA4 RPS6KA3 NKX2-5
44 positive regulation of cardioblast differentiation GO:0051891 9.26 TBX5 NKX2-5 GATA6 GATA4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.06 ZIC3 ZFPM2 TBX5 SMARCA4 NKX2-5 ISL1
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 10.03 ZIC3 TBX5 NKX2-5 ISL1 GATA6 GATA4
3 sequence-specific double-stranded DNA binding GO:1990837 9.93 ZIC3 NKX2-5 ISL1 HAND2 GATA6 GATA4
4 DNA-binding transcription factor activity GO:0003700 9.91 ZIC3 TBX5 NKX2-5 GATA6 GATA4 FOXP4
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.91 ZIC3 TBX5 NKX2-5 ISL1 HAND2 GATA6
6 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.88 ZIC3 TBX5 HAND2 GATA4 FOXF1
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.8 NKX2-5 HAND2 GATA6 GATA4 FOXF1
8 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.7 ZIC3 TBX5 NKX2-5 ISL1 HAND2 GATA4
9 transcription factor binding GO:0008134 9.5 ZFPM2 TBX5 SMARCA4 NKX2-5 HAND2 GATA6
10 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.49 NKX2-5 GATA4
11 sequence-specific DNA binding GO:0043565 9.28 ZIC3 TBX5 NKX2-5 ISL1 HAND2 GATA6

Sources for Ventricular Septal Defect

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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