Aortic valve disease in pulmonary atresia and major aortopulmonary collaterals.

BACKGROUND: Aortic valve disease in association with pulmonary atresia, ventricular septal defect, and major aortopulmonary collaterals (PA/VSD/MAPCAs) is an extremely rare combination of congenital heart defects. The presence of aortic stenosis or insufficiency or both imposes an additional physiologic burden that complicates the management of PA/VSD/MAPCAs. This report summarizes our experience with 7 patients who underwent surgical repair of this rare combination of defects.

METHODS: This was a retrospective review of patients who had both aortic valve disease and PA/VSD/MAPCAs. Four patients had predominantly aortic stenosis, 2 patients had aortic insufficiency, and 1 had mixed stenosis and insufficiency. Anatomically, this corresponded to a dysplastic trileaflet valve in 4, bicuspid valve in 2, and quadricuspid valve in 1.

RESULTS: Four of the 7 patients underwent aortic valve surgery at the time of their first operation for PA/VSD/MAPCAs. The remaining 3 patients had aortic valve surgery at subsequent operations. All 7 patients are alive, with a median duration of follow-up of 3 years. One patient has required aortic valve replacement 2 years after repair of an insufficient bicuspid valve.

CONCLUSIONS: This manuscript summarizes our experience with 7 patients who had the rare combination of aortic valve disease and PA/VSD/MAPCAs. Although aortic valve disease has been reported for other conotruncal defects, we believe this is the first report of its presence in association with PA/VSD/MAPCAs.