Preferred Label : Ventricular septal defect 3;
Symbol : VSD3;
CISMeF acronym : VSD3;
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 NKX2-5
gene include atrial septal defect with or without atrioventricular conduction defects
(ASD7; 108900), tetralogy of Fallot (see TOF, 187500), conotruncal malformations (see
217095), and hypoplastic left heart syndrome (HLHS2; 614435). For a discussion of
genetic heterogeneity of ventricular septal defect, see VSD1 (614429).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the NK2 homeobox-5 gene (NKX2-5, 600584.0021);
Prefixed ID : #614432;
Origin ID : 614432;
UMLS CUI : C3280785;
Automatic exact mappings (from CISMeF team)
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
