Original article: cardiovascularDeletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect
Section snippets
Patients
From January 1993 through May 2002, 67 patients with PA/VSD presented to our institution. Deletion analysis for del22q was performed in 58 of 67 subjects (87%). These 58 patients comprise the study population for this analysis. The age at presentation ranged from 1 day to 4.5 years (median, 12 days). Of the 58 patients, 31 (53%) were male and 27 (47%) were female. Two patients had undergone a Blalock-Taussig shunt placement elsewhere prior to presentation at our institution.
Analysis of pulmonary arteries
All study subjects
Results
Of the 58 patients with PA/VSD in this series, 20 (34%) were found to have del22q. Major aortopulmonary collaterals were significantly more common in subjects with del22q (13 of 20; 65%) than in subjects without del22q (14 of 38; 37%; p = 0.04; Table 1). A right aortic arch was also significantly more common in patients with del22q (13 of 20; 65%) compared with patients without del22q (12 of 38; 32%, p = 0.01). Additional genetic syndromes and associations identified among the 38 subjects
Comment
This study analyzes the impact of del22q on outcome for patients with PA/VSD from a single institution. There was an association between del22q and the presence of MAPCAs and the degree of pulmonary artery hypoplasia. Patients with del22q had a significantly higher mortality rate than patients without del22q, due at least in part to more severe pulmonary artery hypoplasia. Invasive infections did not appear to be a risk factor for increased operative mortality among patients with del22q.
Over
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