Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course

One hundred and four patients with Williams-Beuren syndrome were investigated from 1958 to 1992. Follow-up ranged from 1 to 32 years (mean 13), during which time 10 patients died and 17 were lost to follow-up. Seventy-six patients were in NYHA classes I and II and one was in class III. When first investigated, blood pressure was raised in 82% of the patients; at the latest evaluation 52% suffered from high blood pressure. Right heart catheterization was performed in 100 patients and repeated in 19; left heart catheterization was performed in 85 patients and repeated in 21. Right ventricular pressure ranged from 20 to 140 mmHg (mean 45), the mean pressure decreased from 66 mmHg to 50 mmHg (P < 0.006), the average value of the 19 patients in whom the measurements were repeated. The supravalvular aortic gradients ranged from 0 to 110 mmHg (mean 27), and the mean value of the 21 patients with repeated catheterization increased from 13 to 27 mmHg (P < 0.03). Twenty-nine patients underwent operative repair, two patients died peri-operatively. Pre-operative aortic gradients ranged from 40 to 110 mmHg (mean 76), postoperative gradients from 0 to 90 mmHg (mean 15). Forty-one adult patients were reevaluated. Doppler investigation revealed mild aortic insufficiency in eight patients and severe mitral regurgitation in one. In 32 patients, bicycle exercise testing was normal.