MCID: VNT002
MIFTS: 60

Ventricular Septal Defect malady

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Ventricular Septal Defect

Aliases & Descriptions for Ventricular Septal Defect:

Name: Ventricular Septal Defect 12 14
Ventricular Septal Defects 50 29 52
Heart Septal Defects, Ventricular 50 42
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 ventricular septal defects, is related to ichthyosis and ventricular septal defect 3. An important gene associated with Ventricular Septal Defect is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Human Embryonic Stem Cell Pluripotency. 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 : 71 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 203)
id Related Disease Score Top Affiliating Genes
1 ichthyosis 28.3 CITED2 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
2 ventricular septal defect 3 12.4
3 ventricular septal defect 2 12.4
4 ventricular septal defect 1 12.4
5 pulmonary atresia with ventricular septal defect 12.3
6 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome 12.0
7 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 12.0
8 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 12.0
9 tetralogy of fallot 11.9
10 laubry-pezzi syndrome 11.5
11 tricuspid atresia 11.3
12 eisenmenger syndrome 11.3
13 cor triatriatum 11.2
14 conotruncal heart malformations 11.1
15 heterotaxy, visceral, 1, x-linked 11.0
16 hirschsprung disease polydactyly heart disease 11.0
17 laurence prosser rocker syndrome 11.0
18 joubert syndrome 18 10.9
19 microphthalmia, syndromic 2 10.9
20 transposition of the great arteries, dextro-looped 2 10.9
21 warsaw breakage syndrome 10.9
22 goldberg-shprintzen megacolon syndrome 10.9
23 adams-oliver syndrome 1 10.9
24 transposition of the great arteries, dextro-looped 1 10.9
25 pancreatic agenesis and congenital heart defects 10.9
26 adams-oliver syndrome 6 10.9
27 congenital heart defects, multiple types, 4 10.9
28 short stature, developmental delay, and congenital heart defects 10.9
29 left ventricular noncompaction 1, with or without congenital heart defects 10.9
30 ritscher-schinzel syndrome 10.9
31 transposition of great arteries, dextro-looped 3 10.9
32 hirschsprung disease, cardiac defects, and autonomic dysfunction 10.9
33 adams-oliver syndrome 5 10.9
34 right atrial isomerism 10.9
35 heterotaxy, visceral, 5 10.9
36 gerbode defect 10.6
37 transposition of the great arteries 10.6
38 left ventricular outflow tract obstruction 10.4
39 myocardial infarction 10.4
40 aneurysm 10.4
41 endocarditis 10.4
42 patent ductus arteriosus 10.4
43 aortic valve prolapse 10.3
44 pulmonary hypertension 10.3
45 pulmonic stenosis 10.3
46 persistent eustachian valve 10.3 GATA4 GATA6
47 aortic coarctation 10.2
48 congenital benign spinal muscular atrophy dominant 10.2 GATA4 GATA6
49 dextrocardia 10.2
50 congenitally corrected transposition of the great arteries 10.2

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:

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 NODAL TBX5
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 NODAL TBX5 CITED2 GATA6
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 GATA6 CITED2
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 TWIST1 ZFPM2 BCOR CITED2 GATA4 GATA5
2 cellular MP:0005384 10.36 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
3 embryo MP:0005380 10.32 BCOR CITED2 GATA4 GATA6 GDF1 ISL1
4 growth/size/body region MP:0005378 10.29 BCOR CITED2 GATA4 GATA6 GDF1 ISL1
5 mortality/aging MP:0010768 10.24 NFATC1 NKX2-5 NKX2-6 NODAL TBX5 TWIST1
6 homeostasis/metabolism MP:0005376 10.23 NKX2-6 NODAL TBX5 ZFPM2 CITED2 GATA4
7 digestive/alimentary MP:0005381 10.22 GATA4 GATA5 GDF1 ISL1 JAG1 NFATC1
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 ISL1 NFATC1 TBX5 TWIST1 CITED2 GATA4
12 liver/biliary system MP:0005370 9.95 GATA4 GATA6 GDF1 JAG1 NFATC1 NODAL
13 normal MP:0002873 9.9 JAG1 NKX2-5 NKX2-6 NODAL TBX5 ZFPM2
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 NODAL TBX5 TWIST1 CITED2 GATA4 GATA5

Drugs & Therapeutics for Ventricular Septal Defect

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

(show top 50) (show all 80)
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 top 50) (show all 61)
id Name Status NCT ID Phase
1 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. Not yet recruiting NCT02914652 Phase 4
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
4 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3
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
8 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2
9 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2
10 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2
11 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2
12 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738 Phase 1, Phase 2
13 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Not yet recruiting NCT03079401 Phase 1, Phase 2
14 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1
15 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
16 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
17 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1
18 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
19 Transcaval Access for Transcatheter Aortic Valve Replacement in People With No Good Options for Aortic Access Enrolling by invitation NCT02280824 Phase 1
20 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
21 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
22 Pivotal Study of a Percutaneous Mitral Valve Repair System Unknown status NCT00209274
23 Emergency/Compassionate Use - Muscular VSD Occluder Approved for marketing NCT00590382
24 Transcatheter Closure Versus Surgery of Perimembranous Ventricular Septal Defects Completed NCT00890799
25 Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect Completed NCT01480908
26 Longterm Outcome After Ventricular Septal Defect Closure Completed NCT02138435
27 Hybrid Closure of Congenital Heart Disease Completed NCT02794584
28 A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect Completed NCT02361008
29 Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With Closed Ventricular Septal Defect Completed NCT02648984
30 The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension Completed NCT01313832
31 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
32 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
33 Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions Completed NCT02552485
34 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393
35 Bupropion & Cardio Birth Defect (Slone) Completed NCT01597661
36 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
37 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
38 Follow up of Post-repair Tetralogy of Fallot Completed NCT00266188
39 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
40 Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass Completed NCT01228305
41 Genes Causing Ebstein's Anomaly Completed NCT00497705
42 Plastic Bronchitis and Protein Losing Enteropathy in Children With Single Ventricle Physiology Completed NCT01563757
43 EVEREST II Pivotal Study High Risk Registry (HRR) Completed NCT01940120
44 Cardiac Function After Transcatheter VSD Closure Recruiting NCT03127748
45 Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients Recruiting NCT02861963
46 Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study Recruiting NCT00647387
47 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207
48 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708
49 MitraClip® and Hemodynamic Effects of Relevant Iatrogenic Atrial Septum Defect Closure Recruiting NCT03024268
50 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995

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 1073)
id Title Authors Year
1
Interventricular septal hematoma following repair of a ventricular septal defect. ( 28493392 )
2017
2
Severe pulmonary arterial hypertension in a patient with small ventricular septal defect. ( 28077486 )
2017
3
Ventricular Septal Defect Complicating ST-Elevation Myocardial Infarctions: A Call for Action. ( 28065768 )
2017
4
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
5
Bilateral Coronary-Pulmonary Artery Fistulas in Pulmonary Atresia With Ventricular Septal Defect. ( 28496023 )
2017
6
Right-to-left shunting through the unidirectional valved patch after closure of ventricular septal defect. ( 28393787 )
2017
7
Aortic valve prolapse misdiagnosed as aortic sinus aneurysm in patients with ventricular septal defect. Analysis of the echocardiographic findings. ( 28397952 )
2017
8
Percutaneous Perventricular Device Closure of Ventricular Septal Defect: From Incision to Pinhole. ( 27884409 )
2017
9
Simultaneous transcatheter therapy for perimembranous ventricular septal defect combined with patent ductus arteriosus. ( 28497553 )
2017
10
Major Aortopulmonary Collateral Arteries With Anatomy Other Than Pulmonary Atresia/Ventricular Septal Defect. ( 28527961 )
2017
11
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
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
Impaired ventilatory efficiency after closure of atrial or ventricular septal defect. ( 28502187 )
2017
14
Gerbode Ventricular Septal Defect -A Rare Cardiac Anomaly Associated with Genetic Variants in Indian Population- A Case Series. ( 28511407 )
2017
15
Transcatheter device closure of postmyocardial infarction ventricular septal defect. ( 27889458 )
2017
16
Perventricular double-device closure of wide-spaced multi-hole perimembranous ventricular septal defect. ( 28412961 )
2017
17
Left Ventricular Noncompaction With Muscular Ventricular Septal Defect in Mother and Son. ( 28520539 )
2017
18
Does morphological vessel analysis address pulmonary vascular physiology in patients with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries? ( 28472241 )
2017
19
Evaluation of Ventricular Septal Defect with Special Reference to the Spontaneous Closure Rate, Subaortic Ridge, and Aortic Valve Prolapse II. ( 28401252 )
2017
20
Postoperative interventricular septal haematoma following tetralogy of Fallot repair and perimembranous ventricular septal defect repair. ( 28364481 )
2017
21
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
22
Directly ventricular septal defect closure without using arteriovenous wire loop: Our adult case series using transarterial retrograde approach. ( 28529295 )
2017
23
Perventricular device closure of perimembranous ventricular septal defect: effectiveness of symmetric and asymmetric occluders. ( 28082474 )
2017
24
Ventricular septal defect. ( 27435668 )
2016
25
A case of acute myocardial infarction after successful transcatheter closure of ventricular septal defect. ( 28533728 )
2016
26
Altering management decisions with gained anatomical insight from a 3D printed model of a complex ventricular septal defect. ( 27869052 )
2016
27
Aortic Translocation for Repair of Transposition of the Great Arteries (S,D,L) With Ventricular Septal Defect and Pulmonic Stenosis. ( 26694279 )
2016
28
Successful Closure of a Ventricular Septal Defect Using a Novel Non-Prosthesis Touching Technique Following Mechanical Aortic Valve Replacement. ( 27829962 )
2016
29
Closure of a high ventricular septal defect after transcatheter aortic valve implantation with an atrial septal occluder-hybrid treatment for a rare complication. ( 27655741 )
2016
30
Complete Preoperative Evaluation of Pulmonary Atresia with Ventricular Septal Defect with Multi-Detector Computed Tomography. ( 26741649 )
2016
31
Ventricular Septal Defect from Aortic Regurgitation Jet Lesion in Aortic Valve Infective Endocarditis. ( 27989057 )
2016
32
Unidirectional ventricular septal valved patch for repair of late presenting ventricular septal defect with aortopulmonary window. ( 27011704 )
2016
33
Medium to long-term echo follow-up after ventricular septal defect device closure. ( 27112358 )
2016
34
An (In)Significant Ventricular Septal Defect and/or Double-Chambered Right Ventricle: Are There Any Differences in Diagnosis and Prognosis in Adult Patients. ( 27111550 )
2016
35
Severe aortic regurgitation during percutaneous closure of ventricular septal defect. ( 27131265 )
2016
36
Clinical Application and Multidisciplinary Assessment of Three Dimensional Printing in Double Outlet Right Ventricle With Remote Ventricular Septal Defect. ( 27142402 )
2016
37
Long-term outcome after treatment of pulmonary atresia with ventricular septal defect: nationwide study of 109 patients born in 1970-2007. ( 26620210 )
2016
38
Utility of the Gore Septal Occluder in Transcatheter Closure of Post-Myocardial Infarct Ventricular Septal Defect: Initial Experience. ( 27832852 )
2016
39
Right Heart Function of Fetuses and Infants with Large Ventricular Septal Defect: A Longitudinal Case-Control Study. ( 27562129 )
2016
40
Double Aortic Arch Associated with Pulmonary Atresia with Ventricular Septal Defect. ( 27074277 )
2016
41
Pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: primary repair. ( 26811506 )
2016
42
Absent Pulmonary Valve Syndrome With Tricuspid Atresia, Ventricular Septal Defect, and Aneurysmal Dilated Pulmonary Artery: A Case Report of Successful Fontan Completion. ( 27549733 )
2016
43
Repair of Posterior Infarct Ventricular Septal Defect in a Patient with Dextrocardia and Situs Inversus. ( 26785697 )
2016
44
Prediction of Fluid Responsiveness Using Pulse Pressure Variation in Infants Undergoing Ventricular Septal Defect Repair with Median Sternotomy or Minimally Invasive Right Thoracotomy. ( 27837303 )
2016
45
Post-myocardial infarction ventricular septal defect. Is it better to operate on a fresh infarction or to wait? A case study. ( 27212977 )
2016
46
Sudden infant deaths from undiagnosed ventricular septal defect - Report of two autopsy cases. ( 27591530 )
2016
47
Interventional post-myocardial infarction ventricular septal defect closure: a systematic review of current evidence. ( 27173869 )
2016
48
Double Outlet Right Ventricle with Noncommitted Ventricular Septal Defect and Two Adequate Ventricles: is Anatomical Repair Advantageous? ( 27568140 )
2016
49
Achievements and Limitations of a Strategy of Rehabilitation of Native Pulmonary Vessels in Pulmonary Atresia, Ventricular Septal Defect, and Major Aortopulmonary Collateral Arteries. ( 28010875 )
2016
50
Double-Outlet Right Ventricle With Noncommitted Ventricular Septal Defect and 2 Adequate Ventricles: Is Anatomical Repair Advantageous? ( 27568139 )
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 all 47)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.97 BCOR CITED2 GATA6 HOMEZ ISL1 NKX2-5
2 in utero embryonic development GO:0001701 9.96 GATA6 NODAL TWIST1 ZFPM2
3 blood coagulation GO:0007596 9.95 GATA4 GATA5 GATA6 ZFPM2
4 positive regulation of angiogenesis GO:0045766 9.89 GATA4 GATA6 ISL1 NODAL TWIST1
5 lung development GO:0030324 9.87 NODAL TBX5 ZFPM2
6 BMP signaling pathway GO:0030509 9.87 GDF1 NKX2-5 NODAL
7 liver development GO:0001889 9.86 CITED2 GATA6 NODAL
8 negative regulation of cell differentiation GO:0045596 9.83 JAG1 NODAL TWIST1
9 heart looping GO:0001947 9.82 GATA4 NKX2-5 NODAL
10 outflow tract morphogenesis GO:0003151 9.82 CITED2 ISL1 NKX2-5
11 ventricular septum morphogenesis GO:0060412 9.78 CITED2 NKX2-5 ZFPM2
12 cardiac muscle cell differentiation GO:0055007 9.78 GATA4 GATA6 NKX2-5 TBX5
13 positive regulation of vascular endothelial growth factor production GO:0010575 9.77 GATA4 ISL1 NODAL
14 cardiac muscle tissue development GO:0048738 9.75 GATA6 NKX2-5 ZFPM2
15 positive regulation of cardiac muscle cell proliferation GO:0060045 9.74 GATA6 TBX5 ZFPM2
16 embryonic heart tube development GO:0035050 9.73 NKX2-5 NKX2-6 NODAL
17 pharyngeal system development GO:0060037 9.72 ISL1 NKX2-5 NKX2-6
18 outflow tract septum morphogenesis GO:0003148 9.71 GATA6 ISL1 NKX2-5 ZFPM2
19 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.7 ISL1 MYH7
20 endocardial cushion morphogenesis GO:0003203 9.7 ISL1 TWIST1
21 cardiac muscle hypertrophy in response to stress GO:0014898 9.7 GATA6 MYH7
22 cardiac right ventricle morphogenesis GO:0003215 9.7 GATA4 ISL1 JAG1
23 adult heart development GO:0007512 9.69 MYH7 NKX2-5
24 intestinal epithelial cell differentiation GO:0060575 9.69 GATA4 GATA5 GATA6
25 positive regulation of cell-cell adhesion GO:0022409 9.68 CITED2 NODAL
26 endocardial cushion development GO:0003197 9.68 GATA4 TBX5
27 ventricular cardiac muscle cell development GO:0055015 9.68 NKX2-5 NKX2-6
28 cardiac ventricle morphogenesis GO:0003208 9.67 GATA4 NKX2-5
29 pericardium development GO:0060039 9.67 NKX2-6 TBX5
30 positive regulation of male gonad development GO:2000020 9.66 CITED2 ZFPM2
31 cardiac neural crest cell development involved in outflow tract morphogenesis GO:0061309 9.64 JAG1 TWIST1
32 embryonic heart tube left/right pattern formation GO:0060971 9.63 CITED2 NKX2-5
33 atrial cardiac muscle cell development GO:0055014 9.63 NKX2-5 NKX2-6
34 bundle of His development GO:0003166 9.62 NKX2-5 TBX5
35 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.62 CITED2 NODAL
36 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.59 NKX2-5 ZFPM2
37 atrial septum morphogenesis GO:0060413 9.56 GATA4 ISL1 NKX2-5 TBX5
38 heart development GO:0007507 9.56 BCOR CITED2 ISL1 NKX2-5 NKX2-6 NODAL
39 positive regulation of cardioblast differentiation GO:0051891 9.46 GATA4 GATA6 NKX2-5 TBX5
40 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.4 CITED2 GATA4 GATA5 GATA6 ISL1 JAG1
41 transcription, DNA-templated GO:0006351 10.28 BCOR CITED2 GATA4 GATA5 GATA6 HOMEZ
42 multicellular organism development GO:0007275 10.19 CITED2 ISL1 JAG1 NKX2-5 NKX2-6 NODAL
43 regulation of transcription, DNA-templated GO:0006355 10.18 BCOR CITED2 GATA4 GATA5 GATA6 HOMEZ
44 negative regulation of transcription, DNA-templated GO:0045892 10.09 BCOR CITED2 GATA6 NKX2-5 TWIST1 ZFPM2
45 negative regulation of apoptotic process GO:0043066 10.07 CITED2 GATA6 NKX2-5 NKX2-6 TWIST1
46 positive regulation of transcription, DNA-templated GO:0045893 10.06 CITED2 GATA4 GATA5 GATA6 NFATC1 NKX2-5
47 transcription from RNA polymerase II promoter GO:0006366 10.03 CITED2 GATA4 GATA5 GATA6 ISL1 NFATC1

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.91 CITED2 GATA4 GATA5 GATA6 ISL1 NKX2-5
2 sequence-specific DNA binding GO:0043565 9.91 GATA4 GATA5 GATA6 ISL1 NKX2-5 NKX2-6
3 transcription regulatory region DNA binding GO:0044212 9.88 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 9.73 BCOR GATA4 GATA5 GATA6 NFATC1 TBX5
6 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.72 GATA4 GATA5 GATA6 NKX2-5 TBX5
7 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.71 GATA5 GATA6 NFATC1 NKX2-5
8 transcription factor binding GO:0008134 9.7 BCOR GATA4 GATA6 NKX2-5 TBX5 TWIST1
9 RNA polymerase II transcription coactivator activity GO:0001105 9.69 CITED2 ISL1 ZFPM2
10 transcription factor activity, sequence-specific DNA binding GO:0003700 9.65 CITED2 GATA4 GATA5 GATA6 HOMEZ NFATC1
11 enhancer sequence-specific DNA binding GO:0001158 9.63 GATA4 GATA5 ISL1
12 bHLH transcription factor binding GO:0043425 9.54 ISL1 TWIST1
13 RNA polymerase II transcription factor binding GO:0001085 9.02 GATA4 GATA5 GATA6 NFATC1 ZFPM2
14 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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