TETRALOGY-OF-FALLOT WITH PULMONARY ATRESIA ASSOCIATED WITH CHROMOSOME22Q11 DELETION

Objectives. The purpose of this study was to clarify characteristics o f tetralogy of Fallot and pulmonary atresia associated with chromosome 22q11 deletion,Background. DiGeorge syndrome and conotruncal anomaly facies syndrome are associated with chromosome 22q11 deletion (hemizyg osity), Associated cardiac anomalies include tetralogy of Fallot, trun cus arteriosus and interrupted aortic arch, Methods. Twenty three pati ents with tetralogy of Fallot and pulmonary atresia were proved to hav e chromosome 22q11 deletion with fluorescent in situ hybridization usi ng N25 probe (Oncor), Cardiovascular anomalies were compared with thos e in 26 patients with tetralogy of Fallot and pulmonary atresia withou t the deletion, Cardiovascular anomalies were studied with cardiac cat heterization, cineangiography and echocardiography, Results. In patien ts with 22q11 deletion, additional anomalies of the aortic arch, ductu s arteriosus and pulmonary artery were more common as follows: right a ortic arch (70% with deletion vs. 23% without deletion), high aortic a rch reaching third rib (43% vs, 15%), aberrant left subclavian artery (35% vs, 0%), absent ductus arteriosus (83% vs, 46%), major aortopulmo nary collateral arteries (91% vs, 50%), absent confluent central pulmo nary arteries (48% vs. 4%). Conclusions. In patients with tetralogy of Fallot and pulmonary atresia, additional anomalies of the aortic arch , ductus arteriosus and pulmonary arteries are more common in patients with than in those without the 22q11 deletion.