TRUNCUS ARTERIOSUS COMMUNIS ASSOCIATED WITH CHROMOSOME 22Q11 DELETION

Objectives. The purpose of this study was to clarify characteristics o f truncus arteriosus communis associated with chromosome 22q11 deletio n (del 22q11). Background. DiGeorge syndrome and conotruncal anomaly f ace syndrome are associated with del 22q11 (hemizygosity). In 30% of c ases, truncus arteriosus communis is associated with the deletion. Met hods. Fifteen consecutive patients with truncus arteriosus communis we re checked for 22q11 with fluorescent in situ hybridization using an N 25 probe (Oncor). Cardiovascular anomalies were studied with cardiac c atheterization, cineangiography and echocardiography. Results. Five pa tients had del 22q11. Two had a rare type of truncus arteriosus: type A3 of Van Praagh and Van Praagh with major aortopulmonary collateral a rteries and pulmonary ostial stenosis. The other three had type A1 tru ncus arteriosus and pulmonary artery stenosis. One of them had major a ortopulmonary collateral arteries. Ten patients with truncus arteriosu s had no det 22q11. The types of truncus arteriosus in these 10 patien ts were type A1 in 7, type A2 in 2 and type A3 with closed ductus in 1 . None of nine patients with type 1 or type 2 truncus arteriosus had p ulmonary stenosis. Conclusions. In truncus arteriosus communis, the ra re type A3 with major aortopulmonary collateral arteries and pulmonary ostial stenosis and type A1 with pulmonary artery stenosis are associ ated with del 22q11. (C) 1997 by the American College of Cardiology.