Outcome of Pulmonary and Aortic Stenosis in Williams-Beuren Syndrome in an Asian Cohort

Aims: To define the cardiovascular anomalies and the long- term outcomes in an Asian cohort with Williams-Beuren syndrome (WBS). Methods: Data were retrieved from a retrospective chart review of patients who had a definitive diagnosis of WBS by fluorescence in situ hybridization between 1995 and 2005. All patients underwent echocardiography every 3-9 months. Ten patients underwent cardiac catheterization. Results: Twenty-one patients with a total follow-up of 134 patient-years (median: 72 months) were enrolled. Characteristic dysmorphic facial features were noted in 19 patients (n = 19, 90%). All except one had associated cardiac anomalies, accounting for 0.3% (20/6640) of the patients with congenital heart disease. The spectrum of cardiac anomalies included supravalvular aortic stenosis( SVAS) (n = 15, 71%), peripheral pulmonary stenosis (PPS) (n = 12 , 57%), pulmonary valve stenosis (PS) (n = 10, 47%), mitral valve prolapse (MVP) (n = 9, 43%), coarcation of the aorta (n = 4, 19%), ventricular septal defect (n = 2, 10%) and atrial septal defect (n = 1, 5%). Concurrent SVAS and PS /PPS were found in 14 (70%) patients. Only one patient required balloon dilation of PS, which improved. Regression of the stenoses occurred with a probability of 31, 90 and 71 % at the age of 10 years for SAVS, PS and PPS, respectively. Conclusions: Among our WBS patients, SVAS, PPS and PS were common, and were associated with probability of spontaneous regression, especially of right-sided lesions