conotruncal heart malformations
Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
MONDO:0019512
congenital heart malformation
is_a
CTHM
related
Taussig-Bing syndrome or defect
exact
conotruncal cardiac defects
related
conotruncal heart malformations
exact
conotruncal heart malformations, variable
exact
SPCC1902.01