WILLIAMS-BEUREN-SYNDROME - LONG-TERM RESULTS OF SURGICAL TREATMENTS IN 6 PATIENTS

To settle long-term outcome after surgery for supravalvular aortic ste nosis in the Williams-Beuren syndrome, we reviewed the records of 6 pa tients who had repair of the localized form (n=5) or diffuse form (n=1 ) at our Institution from 1965 to 1971, Four patients were females and 2 males, ages at operation ranged from 9 to 16 years (mean=13+/-2.37 years), In all the patients was present the typical elfin facies with mental retardation and reduced I.Q. Preoperative omeral pressure was d ifferent between left and right arm (89+/-7/67+/-8 vs 105+/-8/77+/-4). Chest X-ray showed and enlargement of the cardia silhouette in all th e patients, Cardiac catheterization, performed in all the patients, al lowed diagnosis of supravalvular aortic stenosis and, in one case of s ubaortic stenosis associated, Intraoperatively a coronary tree enlarge ment was found in all cases with particular involvement of the right c oronary in two patients, The mean diameter of the ascending aorta was 5.67+/-1.97 mm but the smallest (3 mm) was in the diffuse group, In gr oup with localized stenosis the aortic root was enlarged with a teardr op patch in Dacron (n=4) or a simple transverse suture after a longitu dinal incision (n=1). A pantaloon-shaped patch was necessary in the di ffuse form case, There were no operative deaths and all the patients w ere discharged from the hospital after 2 weeks. A clinical follow-up w as possible in all the patients (10%) extended from 25 to 30 years (me an = 27.7+/-2.19 years); there were no late deaths and at presents tim e the mean age of the patient is 40+/-3 years, All patients were in fu nctional class I or II, There was no significant difference between pa tients with a teardrop-shaped or pantaloon-shaped patch in terms of la te gradient, survival or aortic insufficiency studied by Echocardiogra phy and color-Doppler, Of six patients two are Living with parents or relatives but four are in a farm-college for disable people working an d having some responsibility. We conclude that surgery for the correct ion of supravalvular aortic stenosis in Williams-Beuren syndrome is ma ndatory and both the procedures with patch techniques provide excellen t long-term results of gradients and aortic valve competence, Moreover the patients after the operation can have a normal activity with a sa tisfactory style and expectation of life.