Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect.

Background: The 22q11.2 deletion (del22q) is present in many patients with conotruncal abnormalities including pulmonary atresia with ventricular septal defect (PA/VSD). We sought to determine the impact of the del22q on outcome in subjects with PA/VSD.

Methods: We reviewed the experience for all patients with PA/VSD who were born between January 1993 and April 2002 and presented to our institution. Patients with conotruncal defects were routinely evaluated for genetic disorders including del22q. Fluorescence in situ hybridization was used to test for del22q.

Results: There were 67 subjects with PA/VSD who presented during that time period; testing for del22q was performed in 58 of 67 (87%) and these 58 patients comprised the study population. The 22q11.2 deletion was present in 20 of 58 (34%) patients tested. Major aortopulmonary collaterals were defined by angiography and were present in 27 (47%). These collaterals were significantly more common among subjects with del22q (13 of 20, 65%; p = 0.04). The median cross sectional area of the pulmonary arteries, the Nakata index, was significantly less for patients with del22q (41 versus 142 mm(2)/m(2); p = 0.006). There were 3 subjects, all of whom had del22q, who did not undergo surgery owing to markedly hypoplastic pulmonary arteries. Of the remaining 55 patients, 53 had arteriopulmonary shunt with or without unifocalization as the initial procedure and 35 patients have undergone complete repair. There were 8 operative deaths and 1 nonoperative death. The 5-year survival was 36% for patients with del22q versus 90% for patients without del22q. The 22q11.2 deletion was a significant risk factor for death, even after adjusting for the presence of major aortopulmonary collaterals (p = 0.004). There was no significant difference between the two groups with respect to the incidence of serious viral, bacterial, or fungal infections in the perioperative period.

Conclusions: Patients with del22q and PA/VSD are at increased risk for death owing to a variety of factors including less favorable pulmonary artery anatomy. A better understanding of del22q, pulmonary artery anatomy, and outcome is required.