Moyamoya syndrome associated with congenital heart disease.

OBJECTIVE: To describe the association between moyamoya syndrome and congenital heart disease and to discuss its clinical implications. Study Design. Retrospective analysis of a case series from two institutions.
RESULTS: Five patients with moyamoya syndrome and structural congenital heart disease were identified. Coarctation of the aorta was present in 3 patients, in association with a ventricular septal defect (1 patient), aortic and mitral valve stenoses (1 patient), and tetralogy of Fallot (1 patient). Tetralogy of Fallot and a large paramembranous ventricular septal defect were found in the other 2 patients. Four patients underwent surgical repair of their congenital heart disease during the first year of life and 1 patient had balloon dilation of aortic coarctation at 5 years of age. In all patients, moyamoya syndrome was diagnosed after surgical intervention for congenital heart disease-at 6 months of age in 1 patient, at 2 years of age in 3 patients, and at 6 years in 1 patient. Strokes were the most common presenting sign (3 patients) followed by seizures (2 patients). By the age of 33 months, 4 of 5 patients had undergone cerebral revascularization surgery to halt the clinical progression of moyamoya syndrome.
CONCLUSIONS: Moyamoya syndrome should be considered in the differential diagnosis of seizures and stroke in patients with structural congenital heart disease. Prompt diagnosis and surgical management of the occlusive cerebral angiopathy should lead to improved neurological outcome in these patients.