Conotruncal heart malformations are a group of cardiovascular defects resulting from abnormal cardiac outflow tract. The defects include: truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, double outlet right (or left) ventricle, and transposition of the arteries.
Conotruncal heart malformations are associated with mutations in NKX2-6, NKX2-5, GATA6 and human chromosomal region 22q11. In some cases, conotruncal defects have also been observed as a component of DiGeorge, velocardiofacial, and other syndromes.