MCID: VNT028
MIFTS: 29

Ventricular Septal Defect 1

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Ventricular Septal Defect 1

MalaCards integrated aliases for Ventricular Septal Defect 1:

Name: Ventricular Septal Defect 1 54 24 71 29 13 69
Vsd1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
ventricular septal defect 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ventricular Septal Defect 1

OMIM : 54
Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14 to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death (summary by 3,4:Wang et al., 2011, 2011). Other congenital cardiac defects caused by mutation in the GATA4 gene include atrial septal defect (ASD2; 607941), tetralogy of Fallot (see TOF, 187500), and endocardial cushion defects (AVSD4; 614430). (614429)

MalaCards based summary : Ventricular Septal Defect 1, also known as vsd1, is related to ventricular septal defect 3 and ventricular septal defect 2, and has symptoms including atrial septal defect, ventricular septal defect and pulmonic stenosis. An important gene associated with Ventricular Septal Defect 1 is GATA4 (GATA Binding Protein 4). The drugs Adrenergic Agents and Adrenergic Agonists have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and fetal brain.

UniProtKB/Swiss-Prot : 71 Ventricular septal defect 1: A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death.

Related Diseases for Ventricular Septal Defect 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 ventricular septal defect 3 10.8
2 ventricular septal defect 2 10.8
3 fetal alcohol syndrome 9.5 AVSD1 GATA4
4 atrioventricular septal defect 4 9.2 AVSD1 GATA4

Symptoms & Phenotypes for Ventricular Septal Defect 1

Symptoms via clinical synopsis from OMIM:

54

Cardiovascular- Vascular:
pulmonary stenosis (in some patients)

Cardiovascular- Heart:
atrioventricular conduction defect (in some patients)
atrial septal defect (in some patients)
ventricular septal defect


Clinical features from OMIM:

614429

Human phenotypes related to Ventricular Septal Defect 1:

32
id Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 occasional (7.5%) HP:0001631
2 ventricular septal defect 32 HP:0001629
3 pulmonic stenosis 32 occasional (7.5%) HP:0001642

Drugs & Therapeutics for Ventricular Septal Defect 1

Drugs for Ventricular Septal Defect 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 48)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Adrenergic Agents Phase 4,Phase 1
2 Adrenergic Agonists Phase 4,Phase 1
3 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
4 Peripheral Nervous System Agents Phase 4,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
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
14
Enalaprilat Approved Phase 3 76420-72-9 6917719
15 Angiotensin-Converting Enzyme Inhibitors Phase 3
16 Antihypertensive Agents Phase 3
17 HIV Protease Inhibitors Phase 3
18
protease inhibitors Phase 3
19
Milrinone Approved Phase 1, Phase 2 78415-72-2 4197
20
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
21 Phosphodiesterase 3 Inhibitors Phase 1, Phase 2
22 Phosphodiesterase 5 Inhibitors Phase 1, Phase 2
23 Phosphodiesterase Inhibitors Phase 1, Phase 2
24 Platelet Aggregation Inhibitors Phase 1, Phase 2
25 Protective Agents Phase 1, Phase 2
26 Sildenafil Citrate Phase 1, Phase 2 171599-83-0
27 Vasodilator Agents Phase 1, Phase 2
28 Analgesics Phase 2,Phase 1
29 Anesthetics Phase 2
30 Anesthetics, Dissociative Phase 2
31 Anesthetics, General Phase 2
32 Anesthetics, Intravenous Phase 2
33 Central Nervous System Depressants Phase 2,Phase 1
34 Excitatory Amino Acid Antagonists Phase 2
35 Excitatory Amino Acids Phase 2
36 Citrate Nutraceutical Phase 1, Phase 2
37
Citric Acid Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
38
Nitric Oxide Approved Phase 1 10102-43-9 145068
39
Dexmedetomidine Approved, Vet_approved Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
40 Adrenergic alpha-2 Receptor Agonists Phase 1
41 Adrenergic alpha-Agonists Phase 1
42 Analgesics, Non-Narcotic Phase 1
43 Hypnotics and Sedatives Phase 1
44 carnitine Nutraceutical Phase 1
45
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
46 Adjuvants, Anesthesia
47 Analgesics, Opioid
48 Narcotics

Interventional clinical trials:

(show all 19)

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 Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation Terminated NCT00113698 Phase 3 Enalapril
3 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
4 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
5 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
6 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
7 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1 IV L-carnitine
8 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
9 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1 Dexmedetomidine
10 A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect Completed NCT02361008
11 Longterm Outcome After Ventricular Septal Defect Closure Completed NCT02138435
12 Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect Completed NCT01480908
13 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Fentanyl;Fentanyl;Dexmedetomidine and Fentanyl
14 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
15 Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study Recruiting NCT00647387
16 Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Recruiting NCT03176225
17 Extended Criteria For Fetal Myelomeningocele Repair Recruiting NCT02664207
18 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
19 Surgical Outcomes in Pediatric Patients With Coarctation and VSD Terminated NCT00327795

Search NIH Clinical Center for Ventricular Septal Defect 1

Genetic Tests for Ventricular Septal Defect 1

Genetic tests related to Ventricular Septal Defect 1:

id Genetic test Affiliating Genes
1 Ventricular Septal Defect 1 29 24 GATA4

Anatomical Context for Ventricular Septal Defect 1

MalaCards organs/tissues related to Ventricular Septal Defect 1:

39
Heart, Brain, Fetal Brain

Publications for Ventricular Septal Defect 1

Variations for Ventricular Septal Defect 1

UniProtKB/Swiss-Prot genetic disease variations for Ventricular Septal Defect 1:

71
id Symbol AA change Variation ID SNP ID
1 GATA4 p.Ala6Val VAR_067605 rs199922907
2 GATA4 p.Arg43Trp VAR_067606 rs387906770
3 GATA4 p.Gly296Arg VAR_067613 rs104894073
4 GATA4 p.Glu359Lys VAR_067617 rs368489876
5 GATA4 p.Ser429Thr VAR_067622
6 GATA4 p.Ala442Val VAR_067623 rs146017816

ClinVar genetic disease variations for Ventricular Septal Defect 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GATA4 NM_002052.4(GATA4): c.487C> T (p.Pro163Ser) single nucleotide variant Pathogenic rs387906769 GRCh37 Chromosome 8, 11566308: 11566308
2 GATA4 NM_002052.4(GATA4): c.1075G> A (p.Glu359Lys) single nucleotide variant Pathogenic rs368489876 GRCh37 Chromosome 8, 11614521: 11614521
3 GATA4 NM_002052.4(GATA4): c.1325C> T (p.Ala442Val) single nucleotide variant Pathogenic rs146017816 GRCh37 Chromosome 8, 11615980: 11615980
4 GATA4 NM_002052.4(GATA4): c.886G> C (p.Gly296Arg) single nucleotide variant Pathogenic rs104894073 GRCh37 Chromosome 8, 11607722: 11607722
5 GATA4 NM_002052.4(GATA4): c.127C> T (p.Arg43Trp) single nucleotide variant Pathogenic rs387906770 GRCh37 Chromosome 8, 11565948: 11565948

Expression for Ventricular Septal Defect 1

Search GEO for disease gene expression data for Ventricular Septal Defect 1.

Pathways for Ventricular Septal Defect 1

GO Terms for Ventricular Septal Defect 1

Sources for Ventricular Septal Defect 1

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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