Preferred Label : Ventricular septal defect 1;
Symbol : VSD1;
CISMeF acronym : VSD1;
Type : Phenotype, molecular basis known;
Description : 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 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). - Genetic Heterogeneity of Ventricular
Septal Defect VSD2 (614431) is caused by mutation in the CITED2 gene (602937) on chromosome
6q24.1; VSD3 (614432) is caused by mutation in the NKX2-5 gene (600584) on chromosome
5q34. Somatic mutations in the HAND1 gene (602406) have been identified in tissue
samples from patients with VSD.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the GATA-binding protein-4 gene (GATA4, 600576.0007);
Prefixed ID : #614429;
Origin ID : 614429;
UMLS CUI : C3280777;
DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
