MCID: VNT002
MIFTS: 58

Ventricular Septal Defect

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Ventricular Septal Defect

MalaCards integrated aliases for Ventricular Septal Defect:

Name: Ventricular Septal Defect 12 29 14
Heart Septal Defects, Ventricular 50 42
Ventricular Septal Defects 50 52
Interventricular Septal Defect 12
Ventricular Septal Abnormality 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1657
ICD10 33 Q21.0
ICD9CM 35 745.4
MeSH 42 D006345
NCIt 47 C84506
UMLS 69 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 adams-oliver syndrome 5 and artery disease. An important gene associated with Ventricular Septal Defect is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Factors involved in megakaryocyte development and platelet production. The drugs Adrenergic Agents and Adrenergic Agonists have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

Wikipedia : 72 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 3 Ventricular Septal Defect 2
Ventricular Septal Defect 1

Diseases related to Ventricular Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 219)
id Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 5 30.8 NKX2-6 NPPB TWIST1
2 artery disease 28.4 GATA6 GDF1 MYH7 NKX2-5 NKX2-6 NPPB
3 ichthyosis 27.3 CITED2 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
4 pulmonary atresia with ventricular septal defect 12.4
5 ventricular septal defect 3 12.4
6 ventricular septal defect 2 12.4
7 ventricular septal defect 1 12.3
8 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome 12.0
9 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 12.0
10 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 12.0
11 tetralogy of fallot 11.9
12 conotruncal heart malformations 11.6
13 laubry-pezzi syndrome 11.5
14 tricuspid atresia 11.4
15 eisenmenger syndrome 11.3
16 cor triatriatum 11.2
17 heterotaxy, visceral, 1, x-linked 11.0
18 ritscher-schinzel syndrome 1 11.0
19 hirschsprung disease polydactyly heart disease 11.0
20 laurence prosser rocker syndrome 11.0
21 adams-oliver syndrome 1 10.9
22 chromosome 10p deletion 10.9
23 warsaw breakage syndrome 10.9
24 microphthalmia, syndromic 2 10.9
25 transposition of the great arteries, dextro-looped 1 10.9
26 ulnar-mammary syndrome 10.9
27 ritscher-schinzel syndrome 10.9
28 catel-manzke syndrome 10.9
29 goldberg-shprintzen megacolon syndrome 10.9
30 hirschsprung disease, cardiac defects, and autonomic dysfunction 10.9
31 adams-oliver syndrome 6 10.9
32 congenital heart defects and skeletal malformations syndrome 10.9
33 thrombocytopenia, congenital amegakaryocytic 10.9
34 kleefstra syndrome 10.9
35 congenital heart defects, multiple types, 4 10.9
36 pagod syndrome 10.9
37 renal hypodysplasia/aplasia 1 10.9
38 pancreatic agenesis and congenital heart defects 10.9
39 intellectual deficit buenos-aires type 10.9
40 heterotaxy, visceral, 5 10.9
41 left ventricular noncompaction 1, with or without congenital heart defects 10.9
42 polysyndactyly with cardiac malformation 10.9
43 joubert syndrome 18 10.9
44 transposition of great arteries, dextro-looped 3 10.9
45 right atrial isomerism 10.9
46 3mc syndrome 10.9
47 maternal hyperphenylalaninemia 10.9
48 short stature, developmental delay, and congenital heart defects 10.9
49 methimazole antenatal exposure 10.9
50 inferior vena cava interruption 10.7 GATA4 GATA6

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



Diseases related to Ventricular Septal Defect

Symptoms & Phenotypes for Ventricular Septal Defect

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.78 GATA6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.78 TBX5 NODAL
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.78 CITED2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.78 GATA6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.78 TBX5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.78 NODAL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.78 NODAL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.78 TBX5 CITED2 GATA6 NODAL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.78 NODAL
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.78 GATA6
11 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.78 NODAL
12 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.78 TBX5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.78 NODAL
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 TBX5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.78 GATA6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.78 CITED2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.78 CITED2 GATA6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.78 GATA6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.78 CITED2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.78 GATA6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.78 TBX5
22 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.78 TBX5
23 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.78 GATA6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 GATA6

MGI Mouse Phenotypes related to Ventricular Septal Defect:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.46 BCOR CITED2 GATA4 GATA5 GATA6 GDF1
2 cellular MP:0005384 10.36 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
3 embryo MP:0005380 10.32 CITED2 GATA4 GATA6 GDF1 ISL1 JAG1
4 growth/size/body region MP:0005378 10.29 TWIST1 BCOR CITED2 GATA4 GATA6 GDF1
5 mortality/aging MP:0010768 10.24 BCOR CITED2 GATA4 GATA5 GATA6 GDF1
6 homeostasis/metabolism MP:0005376 10.23 ZFPM2 CITED2 GATA4 GATA5 GATA6 ISL1
7 digestive/alimentary MP:0005381 10.22 ISL1 JAG1 NFATC1 NKX2-5 NODAL TWIST1
8 craniofacial MP:0005382 10.14 CITED2 GDF1 ISL1 JAG1 NFATC1 NKX2-5
9 endocrine/exocrine gland MP:0005379 10.1 CITED2 GATA4 GATA5 GDF1 ISL1 JAG1
10 muscle MP:0005369 10.1 GATA4 GATA5 GATA6 ISL1 JAG1 MYH7
11 limbs/digits/tail MP:0005371 10.03 GATA6 HOMEZ ISL1 NFATC1 TBX5 TWIST1
12 liver/biliary system MP:0005370 9.95 GATA4 GATA6 GDF1 JAG1 NFATC1 NODAL
13 normal MP:0002873 9.9 NKX2-5 NKX2-6 NODAL TBX5 ZFPM2 CITED2
14 no phenotypic analysis MP:0003012 9.86 GATA4 ISL1 JAG1 MYH7 NFATC1 NKX2-5
15 respiratory system MP:0005388 9.61 CITED2 GATA4 GATA6 GDF1 NFATC1 NKX2-5
16 skeleton MP:0005390 9.36 CITED2 GATA4 GATA5 GDF1 HOMEZ ISL1

Drugs & Therapeutics for Ventricular Septal Defect

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

(show top 50) (show all 78)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Adrenergic Agents Phase 4,Phase 3,Phase 1
2 Adrenergic Agonists Phase 4,Phase 3,Phase 1
3 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
4 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
5 Adrenergic beta-2 Receptor Agonists Phase 4
6 Adrenergic beta-Agonists Phase 4
7 Albuterol Phase 4
8 Anti-Asthmatic Agents Phase 4
9 Autonomic Agents Phase 4
10 Bronchodilator Agents Phase 4
11 Respiratory System Agents Phase 4
12 Tocolytic Agents Phase 4
13
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
14
Dexmedetomidine Approved, Vet_approved Phase 3,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
15
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
16
Enalaprilat Approved Phase 3 76420-72-9 6917719
17 Antihypertensive Agents Phase 3
18 Endothelin Receptor Antagonists Phase 3
19 Adrenergic alpha-2 Receptor Agonists Phase 3,Phase 1
20 Adrenergic alpha-Agonists Phase 3,Phase 1
21 Analgesics Phase 3,Phase 2,Phase 1
22 Analgesics, Non-Narcotic Phase 3,Phase 1
23 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
24 Hypnotics and Sedatives Phase 3,Phase 1
25 Angiotensin-Converting Enzyme Inhibitors Phase 3
26 HIV Protease Inhibitors Phase 3
27
protease inhibitors Phase 3
28
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
29
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
30 Anesthetics Phase 2
31 Anesthetics, Dissociative Phase 2
32 Anesthetics, General Phase 2
33 Anesthetics, Intravenous Phase 2
34 Excitatory Amino Acid Antagonists Phase 2
35 Excitatory Amino Acids Phase 2
36 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
37 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
38 Phosphodiesterase Inhibitors Phase 1, Phase 2
39 Platelet Aggregation Inhibitors Phase 1, Phase 2
40 Protective Agents Phase 1, Phase 2
41 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
42 Vasodilator Agents Phase 1, Phase 2
43 Anticoagulants Phase 2
44 Blood Substitutes Phase 2
45 Dextrans Phase 2
46 Pharmaceutical Solutions Phase 2
47 Plasma Substitutes Phase 2
48 Citrate Nutraceutical Phase 1, Phase 2
49
Citric Acid Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
50
Nitric Oxide Approved Phase 1 10102-43-9 145068

Interventional clinical trials:

(show all 49)

id Name Status NCT ID Phase Drugs
1 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. Not yet recruiting NCT02914652 Phase 4 Salbutamol;Norflouran (Placebo Evohaler(R) )
2 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
3 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3 Bosentan;Placebo
4 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
5 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Recruiting NCT02644330 Phase 2, Phase 3
6 Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System Suspended NCT00390702 Phase 2, Phase 3
7 Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation Terminated NCT00113698 Phase 3 Enalapril
8 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
9 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
10 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
11 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
12 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
13 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1 IV L-carnitine
14 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
15 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1 Dexmedetomidine
16 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
17 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
18 Transcatheter Closure Versus Surgery of Perimembranous Ventricular Septal Defects Completed NCT00890799
19 Longterm Outcome After Ventricular Septal Defect Closure Completed NCT02138435
20 Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect Completed NCT01480908
21 Hybrid Closure of Congenital Heart Disease Completed NCT02794584 sufentanil anesthesia
22 A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect Completed NCT02361008
23 Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With Closed Ventricular Septal Defect Completed NCT02648984
24 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832
25 Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions Completed NCT02552485
26 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
27 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
28 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Fentanyl;Fentanyl;Dexmedetomidine and Fentanyl
29 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661 Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
30 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
31 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
32 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
33 Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass Completed NCT01228305
34 Follow up of Post-repair Tetralogy of Fallot Completed NCT00266188
35 Plastic Bronchitis and Protein Losing Enteropathy in Children With Single Ventricle Physiology Completed NCT01563757
36 Genes Causing Ebstein's Anomaly Completed NCT00497705
37 Cardiac Function After Transcatheter VSD Closure Recruiting NCT03127748
38 Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients Recruiting NCT02861963
39 Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study Recruiting NCT00647387
40 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207
41 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708
42 Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Recruiting NCT03176225
43 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100
44 The AMPLATZERâ„¢ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) The AMPLATZERâ„¢ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) Post Approval Study Not yet recruiting NCT03165526
45 Evolution of Two Cohorts of Children (Univentricular and Bi-ventricular Heart) After Strapping of the Pulmonary Artery Not yet recruiting NCT03047343
46 Rhythm Disturbances After Ventricular Septal Defects Terminated NCT00208624
47 Optimal Timing for Repair of Left to Right Shunt Lesions Terminated NCT00229827
48 Surgical Outcomes in Pediatric Patients With Coarctation and VSD Terminated NCT00327795
49 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163

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:

id Genetic test Affiliating Genes
1 Ventricular Septal Defect 29

Anatomical Context for Ventricular Septal Defect

MalaCards organs/tissues related to Ventricular Septal Defect:

39
Heart, Lung, Liver, Brain, Colon, Pineal

Publications for Ventricular Septal Defect

Articles related to Ventricular Septal Defect:

(show top 50) (show all 1101)
id Title Authors Year
1
Perventricular double-device closure of wide-spaced multi-hole perimembranous ventricular septal defect. ( 28412961 )
2017
2
The value of dual-source multi detector-row computed tomography in determining pulmonary blood supply in patients with pulmonary atresia with ventricular septal defect. ( 28703845 )
2017
3
Left Ventricular Noncompaction With Muscular Ventricular Septal Defect in Mother and Son. ( 28520539 )
2017
4
Transcatheter device closure of postmyocardial infarction ventricular septal defect. ( 27889458 )
2017
5
Severe pulmonary arterial hypertension in a patient with small ventricular septal defect. ( 28077486 )
2017
6
Traumatic Ventricular Septal Defect After Stab Wound to the Chest Missed by Transthoracic Echocardiography: A Case Report. ( 28759541 )
2017
7
Direct closure of ventricular septal defect for left ventricular outflow tract obstruction in interrupted aortic arch. ( 28918205 )
2017
8
Directly ventricular septal defect closure without using arteriovenous wire loop: Our adult case series using transarterial retrograde approach. ( 28529295 )
2017
9
Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series. ( 28511407 )
2017
10
Promoting Pulmonary Arterial Growth via Right Ventricle-to-Pulmonary Artery Connection in Children With Pulmonary Atresia, Ventricular Septal Defect, and Hypoplastic Pulmonary Arteries. ( 28901225 )
2017
11
Post-Myocardial Infarction Ventricular Septal Defect Six Months following Coronary Artery Bypass Grafting. ( 28846531 )
2017
12
Transcatheter closure of a membranous ventricular septal defect in a 1.8-kg infant using Amplatzer Duct Occluder II additional size device. ( 28506322 )
2017
13
Bilateral Coronary-Pulmonary Artery Fistulas in Pulmonary Atresia With Ventricular Septal Defect. ( 28496023 )
2017
14
Significant survival advantage of high pulmonary vein index and the presence of native pulmonary artery in pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: results from preoperative computed tomography angiography. ( 28369397 )
2017
15
Different predictivity of fluid responsiveness by pulse pressure variation in children after surgical repair of ventricular septal defect or tetralogy of Fallot. ( 28857356 )
2017
16
Dental management of pediatric patients affected by pulmonary atresia with ventricular septal defect: A scoping review. ( 28624838 )
2017
17
Does morphological vessel analysis address pulmonary vascular physiology in patients with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries? ( 28472241 )
2017
18
Percutaneous Perventricular Device Closure of Ventricular Septal Defect: From Incision to Pinhole. ( 27884409 )
2017
19
Simultaneous transcatheter therapy for perimembranous ventricular septal defect combined with patent ductus arteriosus. ( 28497553 )
2017
20
Impaired ventilatory efficiency after closure of atrial or ventricular septal defect. ( 28502187 )
2017
21
Aortic valve prolapse misdiagnosed as aortic sinus aneurysm in patients with ventricular septal defect. Analysis of the echocardiographic findings. ( 28397952 )
2017
22
A hybrid technique for ventricular septal defect closure in young infants. ( 28805030 )
2017
23
MicroRNA expression, target genes, and signaling pathways in infants with a ventricular septal defect. ( 28822034 )
2017
24
Post-infarction ventricular septal defect due to an isolated septal myocardial infarct. ( 28677121 )
2017
25
Factors associated with aortic root dilatation after surgically repaired ventricular septal defect. ( 28681451 )
2017
26
Interventricular septal hematoma following repair of a ventricular septal defect. ( 28493392 )
2017
27
A successful cesarean delivery without fetal or maternal morbidity in an Eisenmenger patient with cor triatriatum sinistrum, double-orifice mitral valve, large ventricular septal defect, and single ventricle who was under long-term bosentan treatment. ( 28424444 )
2017
28
Identification of a novel and functional mutation in the TBX5 gene in a patient by screening from 354 patients with isolated ventricular septal defect. ( 28434921 )
2017
29
Preincision Initiation of Dexmedetomidine Maximally Reduces the Risk of Junctional Ectopic Tachycardia in Children Undergoing Ventricular Septal Defect Repairs. ( 28774644 )
2017
30
Evaluation of Ventricular Septal Defect with Special Reference to the Spontaneous Closure Rate, Subaortic Ridge, and Aortic Valve Prolapse II. ( 28401252 )
2017
31
Long-term Effect of Enlargement of a Ventricular Septal Defect in the Rastelli Procedure. ( 28823332 )
2017
32
Transverse Sternal Split: a Safe Mini-invasive Approach for Perventricular Device Closure of Ventricular Septal Defect. ( 28832796 )
2017
33
Intelligent Phonocardiography for Screening Ventricular Septal Defect Using Time Growing Neural Network. ( 28679899 )
2017
34
Reconstruction of the pulmonary posterior wall using in situ autologous tissue for the treatment of pulmonary atresia with ventricular septal defect. ( 28231853 )
2017
35
Ventricular Septal Defect Complicating ST-Elevation Myocardial Infarctions: A Call for Action. ( 28065768 )
2017
36
Right-to-left shunting through the unidirectional valved patch after closure of ventricular septal defect. ( 28393787 )
2017
37
Postoperative interventricular septal haematoma following tetralogy of Fallot repair and perimembranous ventricular septal defect repair. ( 28364481 )
2017
38
Large ventricular septal defect and coexisting chronic constrictive pericarditis: "reversible Eisenmenger syndrome"-5 years after corrective surgery. ( 28303664 )
2017
39
Percutaneous Closure of the Aorto-Ostial Origin of a Coronary Artery Saphenous Bypass Graft with a Large Pseudoaneurysm Using the AMPLATZER Muscular Ventricular Septal Defect Occluder. ( 28804238 )
2017
40
Outcomes of palliative right ventricle to pulmonary artery connection for pulmonary atresia with ventricular septal defect. ( 28633393 )
2017
41
Coronary-pulmonary arterial fistula in a neonate with pulmonary atresia-ventricular septal defect and single coronary artery. ( 28898455 )
2017
42
Perventricular device closure of perimembranous ventricular septal defect: effectiveness of symmetric and asymmetric occluders. ( 28082474 )
2017
43
Stenting of right ventricular outflow tract in Tetralogy of Fallot with subarterial ventricular septal defect: A word of caution. ( 28928615 )
2017
44
Disappearing high velocity severe tricuspid regurgitation following Ventricular septal defect device closure. ( 28648440 )
2017
45
Single-Stage Repair of Coarctation of the Aorta and Ventricular Septal Defect: A Comparison of Surgical Strategies and Resource Utilization. ( 28901231 )
2017
46
Major Aortopulmonary Collateral Arteries With Anatomy Other Than Pulmonary Atresia/Ventricular Septal Defect. ( 28527961 )
2017
47
Measurement of Aortic Valve Coaptation and Effective Height Using Echocardiography in Patients with Ventricular Septal Defects and Aortic Valve Prolapse. ( 28108755 )
2017
48
Prenatal diagnosis of pulmonary atresia with ventricular septal defect. ( 28752252 )
2017
49
Hemopericardium caused by a mobile retained epicardial pacing wire after ventricular septal defect repair: A case report. ( 27684869 )
2016
50
An unusual case of left bronchial compression caused by a large patent arterial duct in a child with pulmonary atresia with ventricular septal defect. ( 26796364 )
2016

Variations for Ventricular Septal Defect

ClinVar genetic disease variations for Ventricular Septal Defect:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh37 Chromosome 7, 140477806: 140477806

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:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.61 CITED2 GATA4 GATA5 GATA6 ISL1 NFATC1
2 nucleus GO:0005634 9.44 BCOR CITED2 GATA4 GATA5 GATA6 HOMEZ

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

(show top 50) (show all 56)
id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.97 GATA4 GATA5 GATA6 ZFPM2
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.97 BCOR CITED2 GATA6 HOMEZ ISL1 NKX2-5
3 positive regulation of angiogenesis GO:0045766 9.91 GATA4 GATA6 ISL1 NODAL TWIST1
4 lung development GO:0030324 9.88 NODAL TBX5 ZFPM2
5 BMP signaling pathway GO:0030509 9.88 GDF1 NKX2-5 NODAL
6 liver development GO:0001889 9.87 CITED2 GATA6 NODAL
7 in utero embryonic development GO:0001701 9.87 GATA6 NODAL TWIST1 ZFPM2
8 negative regulation of cell differentiation GO:0045596 9.85 JAG1 NODAL TWIST1
9 outflow tract morphogenesis GO:0003151 9.83 CITED2 ISL1 NKX2-5
10 positive regulation of cardiac muscle cell proliferation GO:0060045 9.82 GATA6 TBX5 ZFPM2
11 ventricular septum morphogenesis GO:0060412 9.8 CITED2 NKX2-5 ZFPM2
12 positive regulation of vascular endothelial growth factor production GO:0010575 9.79 GATA4 ISL1 NODAL
13 cardiac muscle tissue development GO:0048738 9.76 GATA6 NKX2-5 ZFPM2
14 cardiac muscle cell differentiation GO:0055007 9.76 GATA4 GATA6 NKX2-5 TBX5
15 embryonic heart tube development GO:0035050 9.75 NKX2-5 NKX2-6 NODAL
16 pharyngeal system development GO:0060037 9.73 ISL1 NKX2-5 NKX2-6
17 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.73 CITED2 GATA4 GATA5 GATA6 ISL1 JAG1
18 male gonad development GO:0008584 9.72 GATA4 GATA6
19 endocardial cushion morphogenesis GO:0003203 9.72 ISL1 TWIST1
20 cardiac right ventricle morphogenesis GO:0003215 9.72 GATA4 ISL1 JAG1
21 cardiac muscle hypertrophy in response to stress GO:0014898 9.71 GATA6 MYH7
22 heart looping GO:0001947 9.71 GATA4 NKX2-5 NODAL
23 outflow tract septum morphogenesis GO:0003148 9.71 GATA6 ISL1 NKX2-5 ZFPM2
24 positive regulation of cell-cell adhesion GO:0022409 9.7 CITED2 NODAL
25 adult heart development GO:0007512 9.69 MYH7 NKX2-5
26 ventricular cardiac muscle cell development GO:0055015 9.69 NKX2-5 NKX2-6
27 cardiac ventricle morphogenesis GO:0003208 9.68 GATA4 NKX2-5
28 pericardium development GO:0060039 9.68 NKX2-6 TBX5
29 positive regulation of male gonad development GO:2000020 9.68 CITED2 ZFPM2
30 vasculogenesis GO:0001570 9.67 NKX2-5 ZFPM2
31 intestinal epithelial cell differentiation GO:0060575 9.67 GATA4 GATA5 GATA6
32 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.65 JAG1 TWIST1
33 embryonic heart tube left/right pattern formation GO:0060971 9.65 CITED2 NKX2-5
34 atrial cardiac muscle cell development GO:0055014 9.64 NKX2-5 NKX2-6
35 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.63 CITED2 NODAL
36 ventricular septum development GO:0003281 9.62 GATA4 TBX5
37 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.61 NKX2-5 ZFPM2
38 bundle of His development GO:0003166 9.6 NKX2-5 TBX5
39 atrial septum morphogenesis GO:0060413 9.56 GATA4 ISL1 NKX2-5 TBX5
40 endocardial cushion development GO:0003197 9.52 GATA4 TBX5
41 positive regulation of cardioblast differentiation GO:0051891 9.46 GATA4 GATA6 NKX2-5 TBX5
42 embryonic placenta development GO:0001892 9.42 NODAL
43 cell growth involved in cardiac muscle cell development GO:0061049 9.41 GATA4
44 trophectodermal cell differentiation GO:0001829 9.41 NODAL
45 cardiac septum morphogenesis GO:0060411 9.39 JAG1
46 embryonic process involved in female pregnancy GO:0060136 9.37 NODAL
47 pulmonary artery morphogenesis GO:0061156 9.36 JAG1
48 heart development GO:0007507 9.23 BCOR CITED2 ISL1 NKX2-5 NKX2-6 NODAL
49 transcription, DNA-templated GO:0006351 10.22 BCOR CITED2 GATA4 GATA5 GATA6 HOMEZ
50 multicellular organism development GO:0007275 10.19 CITED2 ISL1 JAG1 NKX2-5 NKX2-6 NODAL

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.88 CITED2 GATA4 GATA5 GATA6 ISL1 NKX2-5
2 sequence-specific DNA binding GO:0043565 9.87 GATA4 GATA5 GATA6 ISL1 NKX2-5 NKX2-6
3 transcription regulatory region DNA binding GO:0044212 9.85 BCOR GATA4 GATA5 GATA6 NKX2-5
4 transcription corepressor activity GO:0003714 9.83 BCOR CITED2 HOMEZ ZFPM2
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.83 BCOR GATA4 GATA5 GATA6 NFATC1
6 transcription factor binding GO:0008134 9.7 BCOR GATA4 GATA6 NKX2-5 TBX5 TWIST1
7 RNA polymerase II transcription coactivator activity GO:0001105 9.69 CITED2 ISL1 ZFPM2
8 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.67 GATA5 GATA6 NFATC1 NKX2-5
9 enhancer sequence-specific DNA binding GO:0001158 9.65 GATA4 GATA5 ISL1
10 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.65 GATA4 GATA5 GATA6 NKX2-5 TBX5
11 transcription factor activity, sequence-specific DNA binding GO:0003700 9.65 CITED2 GATA4 GATA5 GATA6 HOMEZ NFATC1
12 RNA polymerase II transcription factor binding GO:0001085 9.02 GATA4 GATA5 GATA6 NFATC1 ZFPM2
13 DNA binding GO:0003677 10.19 GATA4 GATA5 GATA6 HOMEZ ISL1 NFATC1

Sources for Ventricular Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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