Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion.

OBJECTIVES

The purpose of this study was to clarify characteristics of 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 (hemizygosity). Associated cardiac anomalies include tetralogy of Fallot, truncus arteriosus and interrupted aortic arch.

METHODS

Twenty-three patients with tetralogy of Fallot and pulmonary atresia were proved to have chromosome 22q11 deletion with fluorescent in situ hybridization using N25 probe (Oncor). Cardiovascular anomalies were compared with those in 26 patients with tetralogy of Fallot and pulmonary atresia without the deletion. Cardiovascular anomalies were studied with cardiac catheterization, cineangiography and echocardiography.

RESULTS

In patients with 22q11 deletion, additional anomalies of the aortic arch, ductus arteriosus and pulmonary artery were more common as follows: right aortic arch (70% with deletion vs. 23% without deletion), high aortic arch reaching third rib (43% vs. 15%), aberrant left subclavian artery (35% vs. 0%), absent ductus arteriosus (83% vs. 46%), major aortopulmonary collateral arteries (91% vs. 50%), absent confluent central pulmonary 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.