conotruncal heart malformation
Definition A congenital heart disorder (OMIM:217095) characterised by cardiac outflow tract defects–e.g., tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.
Molecular pathology Defects of CFC1, which encodes a member of the epidermal growth factor Cripto, Frl-1, Cryptic–CFC family involved in signalling during embryonic development, cause double-outlet right ventricle, a type of conotruncal heart defect. CTHM is a genetic locus on chromosome 22q11 which is thought to contain a gene that causes or increases susceptibility for cono-truncal heart malformation.
Synonyms Double outlet right ventricle, interrupted aortic arch, persistent truncus arteriosus, truncus arteriosus communis