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.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the circulatory system
Structural developmental anomaly of heart or great vessels
LA85 Congenital anomaly of an atrioventricular or ventriculo-arterial connection
H01736 Persistent truncus arteriosus
Surgical correction of persistent truncus arteriosus on a 33-year-old male with unilateral pulmonary hypertension from migration of pulmonary artery band.
