MCID: VNT002
MIFTS: 61

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 77 38 30 6 15
Heart Septal Defects, Ventricular 54 45
Ventricular Septal Defects 54 56
Interventricular Septal Defect 12
Ventricular Septal Abnormality 12
Septal, Ventricular Defect 41

Classifications:



External Ids:

Disease Ontology 12 DOID:1657
KEGG 38 H01926
ICD9CM 36 745.4
MeSH 45 D006345
NCIt 51 C84506
SNOMED-CT 69 30288003
ICD10 34 Q21.0
UMLS 74 C0018818

Summaries for Ventricular Septal Defect

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

MalaCards based summary : Ventricular Septal Defect, also known as heart septal defects, ventricular, is related to eisenmenger syndrome and conotruncal heart malformations. An important gene associated with Ventricular Septal Defect is TBX5 (T-Box 5), and among its related pathways/superpathways are fMLP Pathway and Vascular smooth muscle contraction. The drugs Adrenergic beta-Agonists and Autonomic Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and brain, and related phenotypes are shRNA abundance <= 50% and cardiovascular system

Wikipedia : 77 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 308)
# Related Disease Score Top Affiliating Genes
1 eisenmenger syndrome 33.0 CITED2 GATA4 NKX2-5
2 conotruncal heart malformations 32.6 GATA6 GDF1 NKX2-5 ZFPM2
3 tricuspid atresia 32.6 GDF1 ZFPM2
4 double outlet right ventricle 32.6 GATA4 GATA6 GDF1 ISL1 NKX2-5 ZFPM2
5 tetralogy of fallot 32.5 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
6 transposition of the great arteries 31.8 GATA5 GDF1 NKX2-5 ZIC3
7 patent ductus arteriosus 1 31.5 GATA4 GATA6 GDF1 NKX2-5 NPPB
8 atrial heart septal defect 31.3 GATA4 GATA6 GDF1 NKX2-5 TBX5
9 atrioventricular block 31.1 GATA4 NKX2-5 NPPB TBX5
10 aortic valve disease 1 30.8 GATA5 NKX2-5 NPPB TWIST1
11 atrioventricular septal defect 30.8 GATA4 GATA6 GDF1 NKX2-5 TBX5
12 pulmonic stenosis 30.8 BRAF GATA4 GATA5 JAG1 NR2F2 ZIC3
13 pulmonary valve stenosis 30.7 GATA4 JAG1
14 patent foramen ovale 30.6 CITED2 GATA4 GATA6 NKX2-5 TBX5
15 holt-oram syndrome 30.4 MYH7 NKX2-5 TBX5
16 aortic valve disease 2 30.3 MYH7 NPPB TBX5
17 ebstein anomaly 30.3 GATA4 GDF1 MYH7 NKX2-5 NPPB
18 wolff-parkinson-white syndrome 30.1 JAG1 MYH7 NKX2-5 NPPB
19 dilated cardiomyopathy 29.7 GATA4 MYH7 NKX2-5 NPPB TBX5 TWIST1
20 heart disease 29.6 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
21 ventricular septal defect 3 12.8
22 pulmonary atresia with ventricular septal defect 12.8
23 ventricular septal defect 1 12.8
24 ventricular septal defect 2 12.7
25 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 12.3
26 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 12.3
27 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 12.3
28 laubry-pezzi syndrome 11.9
29 aortic arch interruption 11.6
30 transposition of the great arteries, dextro-looped 1 11.5
31 methimazole antenatal exposure 11.5
32 ritscher-schinzel syndrome 1 11.3
33 heterotaxy, visceral, 1, x-linked 11.3
34 congenital heart defects, multiple types, 6 11.3
35 congenital heart defects and skeletal malformations syndrome 11.3
36 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 11.3
37 right pulmonary artery, anomalous origin of, familial 11.3
38 adams-oliver syndrome 1 11.2
39 renal hypodysplasia/aplasia 1 11.2
40 pagod syndrome 11.2
41 takayasu arteritis 11.2
42 right atrial isomerism 11.2
43 polysyndactyly with cardiac malformation 11.2
44 heterotaxy, visceral, 5, autosomal 11.2
45 microphthalmia, syndromic 2 11.2
46 heart defects, congenital, and other congenital anomalies 11.2
47 amegakaryocytic thrombocytopenia, congenital 11.2
48 mungan syndrome 11.2
49 warsaw breakage syndrome 11.2
50 hirschsprung disease, cardiac defects, and autonomic dysfunction 11.2

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.32 GATA4 GATA5 GATA6 HOMEZ ISL1 NR2F2

MGI Mouse Phenotypes related to Ventricular Septal Defect:

47 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.49 BRAF CITED2 GATA4 GATA5 GATA6 GDF1
2 embryo MP:0005380 10.36 BRAF CITED2 GATA4 GATA6 GDF1 ISL1
3 cellular MP:0005384 10.35 BRAF GATA4 GATA5 GATA6 GDF1 ISL1
4 digestive/alimentary MP:0005381 10.34 BRAF CITED2 GATA4 GATA5 GDF1 ISL1
5 growth/size/body region MP:0005378 10.34 BRAF CITED2 GATA4 GATA6 GDF1 ISL1
6 mortality/aging MP:0010768 10.31 BRAF CITED2 GATA4 GATA5 GATA6 GDF1
7 homeostasis/metabolism MP:0005376 10.29 BRAF CITED2 GATA4 GATA5 GATA6 ISL1
8 endocrine/exocrine gland MP:0005379 10.24 BRAF CITED2 GATA4 GATA5 GDF1 ISL1
9 craniofacial MP:0005382 10.22 BRAF CITED2 GDF1 ISL1 JAG1 NFATC1
10 muscle MP:0005369 10.22 BRAF GATA4 GATA5 GATA6 ISL1 JAG1
11 limbs/digits/tail MP:0005371 10.18 BRAF CITED2 GATA4 GATA6 HOMEZ ISL1
12 integument MP:0010771 10.1 BRAF GATA4 GATA5 ISL1 JAG1 NFATC1
13 nervous system MP:0003631 10.07 BRAF CITED2 GATA4 GDF1 ISL1 JAG1
14 liver/biliary system MP:0005370 10.06 BRAF GATA4 GATA6 GDF1 JAG1 NFATC1
15 normal MP:0002873 10 BRAF CITED2 GATA4 GATA6 GDF1 ISL1
16 no phenotypic analysis MP:0003012 9.92 GATA4 ISL1 JAG1 MYH7 NFATC1 NKX2-5
17 reproductive system MP:0005389 9.76 BRAF GATA4 GATA5 GATA6 ISL1 NR2F2
18 respiratory system MP:0005388 9.61 BRAF CITED2 GATA4 GATA6 GDF1 NFATC1
19 skeleton MP:0005390 9.4 BRAF CITED2 GATA4 GATA5 GDF1 HOMEZ

Drugs & Therapeutics for Ventricular Septal Defect

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

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Adrenergic beta-Agonists Phase 4
2 Autonomic Agents Phase 4
3 Anti-Asthmatic Agents Phase 4
4 Adrenergic beta-2 Receptor Agonists Phase 4
5 Adrenergic Agents Phase 4,Phase 2,Phase 1
6 Adrenergic Agonists Phase 4,Phase 2,Phase 1
7 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
8 Bronchodilator Agents Phase 4
9 Respiratory System Agents Phase 4
10 Tocolytic Agents Phase 4
11 Albuterol Phase 4
12 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable
13
Abciximab Approved Phase 3 143653-53-6
14
Reteplase Approved, Investigational Phase 3 133652-38-7 65820
15
Enalaprilat Approved Phase 3 76420-72-9 6917719
16
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
17 Plasminogen Phase 3
18 Anticoagulants Phase 3,Phase 2
19 Fibrinolytic Agents Phase 3
20 Tissue Plasminogen Activator Phase 3
21 Platelet Aggregation Inhibitors Phase 3,Phase 1,Phase 2
22
protease inhibitors Phase 3
23 HIV Protease Inhibitors Phase 3
24 Angiotensin-Converting Enzyme Inhibitors Phase 3
25 Antihypertensive Agents Phase 3
26
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
27
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
28
Sodium Citrate Approved, Investigational Phase 1, Phase 2,Phase 2 68-04-2
29
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
30
Dexmedetomidine Approved, Vet_approved Phase 2,Phase 1 113775-47-6 5311068 68602
31
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2,Phase 2 77-92-9 311
32
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
33 Central Nervous System Depressants Phase 2,Phase 1,Not Applicable
34 Anesthetics, General Phase 2,Not Applicable
35 Anesthetics Phase 2,Not Applicable
36 Anesthetics, Intravenous Phase 2,Not Applicable
37 Anesthetics, Dissociative Phase 2
38 Analgesics Phase 2,Phase 1,Not Applicable
39 Excitatory Amino Acid Antagonists Phase 2
40 Excitatory Amino Acids Phase 2
41 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
42 Cardiotonic Agents Phase 1, Phase 2
43 Citrate Phase 1, Phase 2,Phase 2
44 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
45 Vasodilator Agents Phase 1, Phase 2
46 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
47 Protective Agents Phase 1, Phase 2
48 Phosphodiesterase Inhibitors Phase 1, Phase 2
49 Adrenergic alpha-Agonists Phase 2,Phase 1
50 Hypnotics and Sedatives Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. Completed NCT02914652 Phase 4 Salbutamol;Norflouran (Placebo Evohaler(R) )
2 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Unknown status NCT02644330 Phase 2, Phase 3
3 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
4 A Study of Abciximab and Reteplase When Administered Prior to Catherization After a Myocardial Infarction (Finesse) Completed NCT00046228 Phase 3 abciximab placebo; reteplase placebo, abciximab, abciximab;Abciximab; reteplase; abciximab placebo; abciximab;abciximab; reteplase placebo; abciximab placebo; abciximab;abciximab placebo; reteplase placebo, abciximab, abciximab;abciximab; reteplase placebo; abciximab placebo; abciximab;Abciximab; reteplase; abciximab placebo; abciximab
5 Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation Terminated NCT00113698 Phase 3 Enalapril
6 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2 Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
7 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
8 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
9 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
10 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
11 Evaluation of Myocardial Effects of Bendavia for Reducing Reperfusion Injury in Patients With Acute Coronary Events Completed NCT01572909 Phase 2 Bendavia (MTP-131);Placebo
12 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
13 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
14 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
15 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Active, not recruiting NCT01825369 Phase 1 IV L-carnitine
16 Cardiac Function After Transcatheter VSD Closure Unknown status NCT03127748
17 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
18 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
19 Transcatheter Closure Versus Surgery of Perimembranous Ventricular Septal Defects Completed NCT00890799 Not Applicable
20 Longterm Outcome After Ventricular Septal Defect Closure Completed NCT02138435
21 Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect Completed NCT01480908 Not Applicable
22 Hybrid Closure of Congenital Heart Disease Completed NCT02794584 Not Applicable sufentanil anesthesia
23 A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect Completed NCT02361008 Not Applicable
24 Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With Closed Ventricular Septal Defect Completed NCT02648984 Not Applicable
25 Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients Completed NCT02861963 Not Applicable
26 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832 Not Applicable
27 Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System Completed NCT00390702 Not Applicable
28 Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions Completed NCT02552485
29 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
30 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
31 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
32 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
33 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
34 Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass Completed NCT01228305 Not Applicable
35 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
36 Follow up of Post-repair Tetralogy of Fallot Completed NCT00266188
37 Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect Recruiting NCT03684161
38 French Observatory of Congenital Ventricular Septal Defect With Pulmonary Overload Recruiting NCT03363932
39 A Trial to Evaluate the Safety and Efficacy of a Fully Degradable Ventricular Septal Defect (VSD) Closure Recruiting NCT03941691 Not Applicable
40 Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study Recruiting NCT00647387 Not Applicable
41 The AMPLATZER™ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) The AMPLATZER™ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) Post Approval Study Recruiting NCT03165526
42 Impact of Congenital Heart Disease on Neurodevelopmental Outcome Recruiting NCT03871881
43 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207 Not Applicable
44 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
45 Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Recruiting NCT03176225 Not Applicable
46 Genetic and Phenotypic Characteristics of Mitral Valve Prolapse Recruiting NCT03884426
47 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100 Not Applicable
48 Mechanical Complications of Acute Myocardial Infarction Not yet recruiting NCT03848429
49 Rhythm Disturbances After Ventricular Septal Defects Terminated NCT00208624
50 Optimal Timing for Repair of Left to Right Shunt Lesions Terminated NCT00229827

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 30

Anatomical Context for Ventricular Septal Defect

MalaCards organs/tissues related to Ventricular Septal Defect:

42
Colon, Testes, Brain, Eye, Spleen, Skeletal Muscle, Heart

Publications for Ventricular Septal Defect

Articles related to Ventricular Septal Defect:

(show top 50) (show all 3115)
# Title Authors Year
1
Ventricular Septal Defect Complicating Inferior Acute Myocardial Infarction: A Case of Percutaneous Closure. ( 31008033 )
2019
2
Pulmonary artery banding in a cat with a perimembranous ventricular septal defect and left-sided congestive heart failure. ( 30835177 )
2019
3
Criss-cross heart with double-outlet right ventricle, subpulmonary ventricular septal defect, and bicuspid pulmonary valve. ( 30770571 )
2019
4
Case 1 / 2019 - Natural Evolution of Double Outlet Right Ventricle with Noncommitted Ventricular Septal Defect and Pulmonary Stenosis in a 28-Year-Old Asymptomatic Woman. ( 30673023 )
2019
5
Perioperative management of a patient with double orifice mitral valve with supramitral ring with subaortic membrane with ventricular septal defect and severe pulmonary hypertension: Report of a rare case. ( 30971608 )
2019
6
Aortic valve replacement and ventricular septal defect repair in factor XII deficiency: An anesthetic challenge. ( 30692899 )
2019
7
A case of hypertrophic cardiomyopathy combined with muscular ventricular septal defect and abnormal origin of right coronary artery. ( 30642255 )
2019
8
Techniques, Timing, and Prognosis of Transcatheter Post Myocardial Infarction Ventricular Septal Defect Repair. ( 31111245 )
2019
9
Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect. ( 30745907 )
2019
10
Pulmonary Atresia with Ventricular Septal Defect: Rare Presentation with Coronary-to-Pulmonary Artery Collaterals from Both Right and Left Coronaries. ( 30917743 )
2019
11
Heart rate variability is impaired in adults after closure of ventricular septal defect in childhood: A novel finding associated with right bundle branch block. ( 30454724 )
2019
12
Determination of dynamic thiol/disulphide homeostasis in children with tetralogy of Fallot and ventricular septal defect. ( 30932800 )
2019
13
Rastelli Operation for D-Transposition of the Great Arteries, Ventricular Septal Defect, and Pulmonary Stenosis. ( 30841838 )
2019
14
Functional outcomes in children with anatomically repaired transposition of the great arteries with regard to congenital ventricular septal defect and coronary pattern. ( 31079070 )
2019
15
Surgical closure of a ventricular septal defect in early childhood leads to altered pulmonary function in adulthood: A long-term follow-up. ( 30001944 )
2019
16
Child neurodevelopment and mental health after surgical ventricular septal defect repair: risk and protective factors. ( 30151966 )
2019
17
Transthoracic Ventricular Septal Defect Closure in Children: An Evolving Treatment Strategy as an Alternative to Open Surgical Repair. ( 30217586 )
2019
18
Intraoperative Device Closure of a Perimembranous Ventricular Septal Defect Using the Right Thoracic Ventricle Approach. ( 30312613 )
2019
19
Left Ventricular Aneurysm After Post-Infarction Ventricular Septal Defect Repair. ( 30359591 )
2019
20
A Modified Transatrial Approach for Repair of Postinfarction Ventricular Septal Defect. ( 30359595 )
2019
21
Left ventricular rotation and torsion in neonates and infants younger than three months with symptomatic ventricular septal defect: Acute effects from open heart surgery. ( 30378134 )
2019
22
Delayed left ventricular pseudo-aneurysm after postinfarction repair of ventricular septal defect. ( 30398513 )
2019
23
Ventricular Septal Defect Closure Devices, Techniques, and Outcomes. ( 30449417 )
2019
24
Prenatal Diagnosis and Postnatal Outcome of Fetuses with Pulmonary Atresia and Ventricular Septal Defect. ( 30616264 )
2019
25
Spatio-temporal image correlation rendering mode visualizes the specific location and surrounding structure of ventricular septal defect. ( 30623992 )
2019
26
Mid-term results of transcatheter closure of ventricular septal defect using Nit-Occlud Lê ventricular septal defect coil, single-center experience. ( 30626993 )
2019
27
NOTCH1 Gene MicroRNA Target Variation and Ventricular Septal Defect Risk. ( 30629480 )
2019
28
Totally endoscopic ventricular septal defect repair using bilateral femoral arterial cannulation in an 8-year-old girl. ( 30641324 )
2019
29
Management issues during postinfarction ventricular septal defect and role of perioperative optimization: A case series. ( 30648676 )
2019
30
Heart rate variability after ventricular septal defect closure. ( 30683334 )
2019
31
Hybrid procedure of right ventricle outflow tract stenting in small infants with pulmonary atresia and ventricular septal defect: early and mid-term results from a single centre. ( 30724146 )
2019
32
Long noncoding RNA SNHG6 contributes to ventricular septal defect formation via negative regulation of miR-101 and activation of Wnt/β-catenin pathway. ( 30782246 )
2019
33
Concomitant partial ventricular septal defect (Pac-man© heart) and left persistent superior vena cava accidentally discovered in young adult. ( 30829129 )
2019
34
A review of the management of pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries. ( 30831109 )
2019
35
Preoperative Extracorporeal Membrane Oxygenation for Postinfarction Ventricular Septal Defect. ( 30848713 )
2019
36
Prediction of Spontaneous closure of ventricular septal defect and guidance for clinical Follow-up. ( 30851056 )
2019
37
Association of aortic root dilatation with left ventricular function in patients with postoperative ventricular septal defect. ( 30859378 )
2019
38
Placental epigenetics for evaluation of fetal congenital heart defects: Ventricular Septal Defect (VSD). ( 30897084 )
2019
39
Utility of transesophageal echocardiography for intra-operatively assessing pulmonary artery pressure across an isolated ventricular septal defect in children. ( 30908738 )
2019
40
Dramatic decrease in mitral prosthetic pressure gradient following percutaneous ventricular septal defect closure. ( 30916325 )
2019
41
Percutaneous Closure of an Iatrogenic Perimembranous Ventricular Septal Defect After Mechanical Aortic Valve Replacement Using a Novel Venous-Arteriovenous Loop. ( 30927537 )
2019
42
Clover-leaf artifact after successful percutaneous closure of muscular ventricular septal defect. ( 30932094 )
2019
43
Patch aneurysm following closure of ventricular septal defect: a rare differential of left ventricular outflow obstruction. ( 30950762 )
2019
44
A Novel Somatic Variant in HEY2 Unveils an Alternative Splicing Isoform Linked to Ventricular Septal Defect. ( 30955100 )
2019
45
Left thorax approach to repair doubly committed juxta-arterial ventricular septal defect with Da Vinci robotic system. ( 30981213 )
2019
46
Hybrid approach to ventricular septal defect enlargement. ( 30983081 )
2019
47
Diagnosis of an Additional Ventricular Septal Defect by Observing Dark Blood in Aortic Root Vent: A Case Report. ( 30985324 )
2019
48
Redo Valve-Sparing Root Replacement for Delayed Cusp Derangement from Ventricular Septal Defect. ( 30986415 )
2019
49
Transesophageal echocardiography-assisted transcatheter device closure of apical muscular ventricular septal defect. ( 31007665 )
2019
50
Midterm Results of Transaxillary Occluder Device Closure of Perimembranous Ventricular Septal Defect Guided Solely by Transesophageal Echocardiography. ( 31013220 )
2019

Variations for Ventricular Septal Defect

ClinVar genetic disease variations for Ventricular Septal Defect:

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.5(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh37 Chromosome 7, 140477806: 140477806
2 BRAF NM_004333.5(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh38 Chromosome 7, 140778006: 140778006
3 RYR1 NM_000540.2(RYR1): c.8290G> A (p.Glu2764Lys) single nucleotide variant Uncertain significance rs193922829 GRCh38 Chromosome 19, 38505061: 38505061
4 RYR1 NM_000540.2(RYR1): c.8290G> A (p.Glu2764Lys) single nucleotide variant Uncertain significance rs193922829 GRCh37 Chromosome 19, 38995701: 38995701
5 covers 61 genes, none of which curated to show dosage sensitivity GRCh37/hg19 14q24.2-q24.3(chr14: 73152115..77698582) deletion Likely pathogenic GRCh37 Chromosome 14, 73152115: 77698582
6 FOXP4 NM_001012426.1(FOXP4): c.815delT (p.Leu272Profs) deletion Likely pathogenic rs1114167294 GRCh37 Chromosome 6, 41555193: 41555193
7 FOXP4 NM_001012426.1(FOXP4): c.815delT (p.Leu272Profs) deletion Likely pathogenic rs1114167294 GRCh38 Chromosome 6, 41587455: 41587455
8 AAR2 NM_015511.4(AAR2): c.520G> A (p.Val174Met) single nucleotide variant Likely pathogenic rs746800707 GRCh38 Chromosome 20, 36240388: 36240388
9 AAR2 NM_015511.4(AAR2): c.520G> A (p.Val174Met) single nucleotide variant Likely pathogenic rs746800707 GRCh37 Chromosome 20, 34828310: 34828310
10 46;XY;t(16;20)(q11.2;q13.2)dn Translocation Uncertain significance
11 complex Uncertain significance
12 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
13 46;XY;t(2;13)(p25.2;q31.3)dn Translocation Uncertain significance
14 46;XY;t(6;20)(p12;q13.1)dn Translocation Uncertain significance
15 46;XY;inv(9)(p24q12) inversion Uncertain significance
16 46;XY;t(5;7)(q35;q33)dn Translocation Pathogenic
17 FOXF1 NM_001451.2(FOXF1): c.280A> T (p.Asn94Tyr) single nucleotide variant Likely pathogenic rs1057518868 GRCh37 Chromosome 16, 86544455: 86544455
18 FOXF1 NM_001451.2(FOXF1): c.280A> T (p.Asn94Tyr) single nucleotide variant Likely pathogenic rs1057518868 GRCh38 Chromosome 16, 86510849: 86510849
19 SMARCA4 NM_001128849.1(SMARCA4): c.1358C> T (p.Thr453Ile) single nucleotide variant Likely benign rs1057518862 GRCh38 Chromosome 19, 10991262: 10991262
20 SMARCA4 NM_001128849.1(SMARCA4): c.1358C> T (p.Thr453Ile) single nucleotide variant Likely benign rs1057518862 GRCh37 Chromosome 19, 11101938: 11101938
21 RPS6KA3 NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 GRCh37 Chromosome X, 20211665: 20211665
22 RPS6KA3 NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 GRCh38 Chromosome X, 20193547: 20193547
23 TBX5 NM_000192.3(TBX5): c.1221C> G (p.Tyr407Ter) single nucleotide variant Pathogenic rs1555223259 GRCh38 Chromosome 12, 114355868: 114355868
24 TBX5 NM_000192.3(TBX5): c.1221C> G (p.Tyr407Ter) single nucleotide variant Pathogenic rs1555223259 GRCh37 Chromosome 12, 114793673: 114793673
25 MYCN NM_005378.5(MYCN): c.1226C> T (p.Pro409Leu) single nucleotide variant Uncertain significance rs1553371013 GRCh37 Chromosome 2, 16086050: 16086050
26 MYCN NM_005378.5(MYCN): c.1226C> T (p.Pro409Leu) single nucleotide variant Uncertain significance rs1553371013 GRCh38 Chromosome 2, 15945928: 15945928
27 HUWE1 NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro) single nucleotide variant Uncertain significance rs1556948950 GRCh37 Chromosome X, 53596615: 53596615
28 HUWE1 NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro) single nucleotide variant Uncertain significance rs1556948950 GRCh38 Chromosome X, 53569655: 53569655
29 FLVCR2 GRCh37/hg19 14q24.3(chr14: 76105695-76107636) copy number loss Uncertain significance GRCh37 Chromosome 14, 76105695: 76107636
30 OBSL1 NM_015311.3(OBSL1): c.3341G> A (p.Trp1114Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220423067: 220423067
31 OBSL1 NM_015311.3(OBSL1): c.3341G> A (p.Trp1114Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219558345: 219558345
32 OBSL1 NM_015311.3(OBSL1): c.2980C> T (p.Arg994Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220424193: 220424193
33 OBSL1 NM_015311.3(OBSL1): c.2980C> T (p.Arg994Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219559471: 219559471
34 GATA4 NM_002052.4(GATA4): c.94G> C (p.Ala32Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 11565915: 11565915
35 GATA4 NM_002052.4(GATA4): c.94G> C (p.Ala32Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 11708406: 11708406
36 ERF NM_006494.4(ERF): c.1636C> T (p.Arg546Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 42752628: 42752628
37 ERF NM_006494.4(ERF): c.1636C> T (p.Arg546Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 42248476: 42248476
38 FLNA NM_001110556.2(FLNA): c.3934C> T (p.Arg1312Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154359777: 154359777
39 FLNA NM_001110556.2(FLNA): c.3934C> T (p.Arg1312Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153588145: 153588145

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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 BRAF GATA4 GATA6 ISL1 NFATC1 ZIC3
2
Show member pathways
12.56 BRAF GATA4 MYH7 NFATC1 NPPB
3
Show member pathways
12.45 BRAF GATA4 GATA5 GATA6 NFATC1
4
Show member pathways
12.29 GATA4 GATA5 GATA6 NKX2-5
5
Show member pathways
12.16 GATA4 MYH7 NKX2-5 NPPB TBX5
6 11.9 GATA4 GATA5 GATA6 ZFPM2
7 11.79 GATA4 ISL1 NKX2-5 TBX5
8 11.29 GATA4 GATA6 TWIST1
9 11.28 GATA4 ISL1 NKX2-5 TBX5
10 11.18 GATA4 GATA6 ISL1 NFATC1 ZIC3
11 10.76 GATA4 GATA6 ISL1 NFATC1 NKX2-5 TBX5
12 10.6 GATA4 MYH7 NKX2-5 NPPB
13 10.26 GATA4 NKX2-5

GO Terms for Ventricular Septal Defect

Cellular components related to Ventricular Septal Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 BRAF CITED2 GATA4 GATA5 GATA6 HOMEZ
2 nucleoplasm GO:0005654 9.36 CITED2 GATA4 GATA5 GATA6 ISL1 NFATC1

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.98 CITED2 GATA6 NR2F2 TWIST1 ZFPM2
2 blood coagulation GO:0007596 9.96 GATA4 GATA5 GATA6 ZFPM2
3 positive regulation of angiogenesis GO:0045766 9.94 GATA4 GATA6 ISL1 TWIST1
4 negative regulation of cell migration GO:0030336 9.88 CITED2 JAG1 TBX5
5 male gonad development GO:0008584 9.87 CITED2 GATA4 GATA6
6 lung development GO:0030324 9.85 TBX5 ZFPM2 ZIC3
7 positive regulation of transcription, DNA-templated GO:0045893 9.85 CITED2 GATA4 GATA5 GATA6 NFATC1 NKX2-5
8 vasculogenesis GO:0001570 9.83 CITED2 NKX2-5 ZFPM2
9 heart looping GO:0001947 9.83 CITED2 GATA4 NKX2-5 ZIC3
10 outflow tract morphogenesis GO:0003151 9.82 CITED2 ISL1 NKX2-5
11 ventricular septum morphogenesis GO:0060412 9.8 CITED2 NKX2-5 ZFPM2
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.79 GATA6 TBX5 ZFPM2
13 ventricular septum development GO:0003281 9.77 CITED2 GATA4 TBX5
14 cardiac muscle tissue development GO:0048738 9.75 GATA6 NKX2-5 ZFPM2
15 transcription by RNA polymerase II GO:0006366 9.74 GATA4 GATA6 NFATC1
16 cardiac right ventricle morphogenesis GO:0003215 9.73 GATA4 ISL1 JAG1
17 outflow tract septum morphogenesis GO:0003148 9.73 GATA6 ISL1 NKX2-5 ZFPM2
18 endocardial cushion development GO:0003197 9.72 CITED2 GATA4 TBX5
19 cardiac muscle cell differentiation GO:0055007 9.71 GATA4 GATA6 NKX2-5 TBX5
20 negative regulation of cardiac muscle cell proliferation GO:0060044 9.7 CITED2 TBX5
21 pharyngeal system development GO:0060037 9.7 ISL1 NKX2-5
22 endocardial cushion morphogenesis GO:0003203 9.69 ISL1 TWIST1
23 adult heart development GO:0007512 9.68 MYH7 NKX2-5
24 cardiac muscle hypertrophy in response to stress GO:0014898 9.68 GATA6 MYH7
25 cardiac septum morphogenesis GO:0060411 9.68 CITED2 JAG1
26 cardiac ventricle morphogenesis GO:0003208 9.67 GATA4 NKX2-5
27 positive regulation of male gonad development GO:2000020 9.67 CITED2 ZFPM2
28 aortic valve morphogenesis GO:0003180 9.67 GATA4 GATA5 JAG1 TWIST1
29 pulmonary artery morphogenesis GO:0061156 9.65 CITED2 JAG1
30 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.63 JAG1 TWIST1
31 embryonic heart tube left/right pattern formation GO:0060971 9.63 CITED2 NKX2-5
32 intestinal epithelial cell differentiation GO:0060575 9.63 GATA4 GATA5 GATA6
33 atrial septum morphogenesis GO:0060413 9.62 GATA4 ISL1 NKX2-5 TBX5
34 bundle of His development GO:0003166 9.61 NKX2-5 TBX5
35 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.59 NKX2-5 ZFPM2
36 positive regulation of cardioblast differentiation GO:0051891 9.56 GATA4 GATA6 NKX2-5 TBX5
37 animal organ morphogenesis GO:0009887 9.48 BRAF JAG1
38 positive regulation of transcription by RNA polymerase II GO:0045944 9.4 CITED2 GATA4 GATA5 GATA6 ISL1 JAG1
39 heart development GO:0007507 9.35 CITED2 ISL1 NKX2-5 TBX5 ZFPM2
40 cell development GO:0048468 9.24 GDF1
41 multicellular organism development GO:0007275 10.21 CITED2 ISL1 JAG1 NKX2-5 TBX5 TWIST1
42 cell differentiation GO:0030154 10.19 BRAF CITED2 ISL1 NKX2-5 TWIST1 ZFPM2
43 regulation of transcription, DNA-templated GO:0006355 10.19 CITED2 GATA4 GATA5 GATA6 HOMEZ ISL1
44 negative regulation of transcription by RNA polymerase II GO:0000122 10.11 CITED2 GATA6 HOMEZ ISL1 NKX2-5 NR2F2
45 negative regulation of apoptotic process GO:0043066 10.09 BRAF CITED2 GATA6 NKX2-5 TWIST1
46 negative regulation of transcription, DNA-templated GO:0045892 10.09 CITED2 GATA6 NKX2-5 NR2F2 TWIST1 ZFPM2
47 positive regulation of gene expression GO:0010628 10.06 BRAF CITED2 GATA5 NKX2-5 TWIST1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.87 GATA4 GATA6 NFATC1 NKX2-5 TBX5 TWIST1
2 chromatin binding GO:0003682 9.85 CITED2 GATA6 ISL1 NFATC1 NKX2-5
3 transcription coactivator activity GO:0003713 9.81 CITED2 GATA4 ISL1 ZFPM2
4 transcription regulatory region DNA binding GO:0044212 9.8 GATA4 GATA5 GATA6 NKX2-5
5 transcription corepressor activity GO:0003714 9.78 CITED2 HOMEZ NR2F2 ZFPM2
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.76 GATA4 GATA5 GATA6 ISL1 NFATC1 NKX2-5
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 GATA4 GATA5 GATA6 HOMEZ ISL1 NFATC1
8 RNA polymerase II transcription factor binding GO:0001085 9.61 GATA4 NFATC1 ZFPM2
9 enhancer sequence-specific DNA binding GO:0001158 9.43 GATA4 GATA5 ISL1
10 DNA-binding transcription factor activity GO:0003700 9.36 CITED2 GATA4 GATA5 GATA6 HOMEZ NFATC1
11 protein binding GO:0005515 10.4 BRAF CITED2 GATA4 GATA6 ISL1 JAG1
12 DNA binding GO:0003677 10.15 GATA4 GATA5 GATA6 HOMEZ ISL1 NFATC1
13 sequence-specific DNA binding GO:0043565 10.01 GATA4 GATA5 GATA6 ISL1 NKX2-5 NR2F2

Sources for Ventricular Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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