Persistent truncus arteriosus

Persistent truncus arteriosus (PTA) is a rare congenital condition in which a solitary arterial trunk arises from the base of the heart and supplies the coronary, pulmonary and systemic arteries. It is recognized as the most severe phenotype of outflow tract defect, and survival into adulthood is dismal without surgery. It is often associated with an unfavorable prognosis because complete surgical repair is not always possible. Mutations in the NKX2-6 gene and GATA6 gene have been found in patients with PTA. The association between truncus arteriosus and chromosome 22q11 deletion is well recognized.