Actis Dato G M, La Torre M, Caimmi P, Actis Dato A, Centofanti P, Ottino G M, Di Summa M
Italian Institution of Cardiac Surgery, Turin, Italy.
J Cardiovasc Surg (Torino). 1997 Apr;38(2):125-9.
To settle long-term outcome after surgery for supravalvular aortic stenosis in the Williams-Beuren syndrome, we reviewed the records of 6 patients 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 different 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 the patients. Cardiac catheterization, performed in all the patients, allowed diagnosis of supravalvular aortic stenosis and, in one case of subaortic stenosis associated. Intraoperatively a coronary tree enlargement was found in all cases with particular involvement of the right coronary 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 group with localized stenosis the aortic root was enlarged with a teardrop patch in Dacron (n = 4) or a simple transverse suture after a longitudinal incision (n = 1). A pantaloon-shaped patch was necessary in the diffuse form case. There were no operative deaths and all the patients were discharged from the hospital after 2 weeks. A clinical follow-up was possible in all the patients (10%) extended from 25 to 30 years (mean = 27.7 +/- 2.19 years); there were no late deaths and at presents time the mean age of the patient is 40 +/- 3 years. All patients were in functional class I or II. There was no significant difference between patients with a teardrop-shaped or pantaloon-shaped patch in terms of late gradient, survival, or aortic insufficiency studied by Echocardiography and color-Doppler. Of six patients two are living with parents or relatives but four are in a farm-college for disable people working and having some responsibility. We conclude that surgery for the correction of supravalvular aortic stenosis in Williams-Beuren syndrome is mandatory and both the procedures with patch techniques provide excellent long-term results of gradients and aortic valve competence. Moreover the patients after the operation can have a normal activity with a satisfactory style and expectation of life.
为了确定威廉姆斯-贝伦综合征患者主动脉瓣上狭窄手术后的长期预后，我们回顾了1965年至1971年在我院接受局限性（n = 5）或弥漫性（n = 1）主动脉瓣上狭窄修复手术的6例患者的病历。4例为女性，2例为男性，手术年龄为9至16岁（平均 = 13±2.37岁）。所有患者均有典型的小精灵面容，伴有智力发育迟缓及智商降低。术前左右臂血压不同（89±7/67±8与105±8/77±4）。所有患者胸部X线显示心影增大。所有患者均进行了心导管检查，确诊为主动脉瓣上狭窄，其中1例合并主动脉瓣下狭窄。术中发现所有病例冠状动脉增粗，2例患者右冠状动脉尤其明显。升主动脉平均直径为5.67±1.97 mm，但弥漫性病变组最小（3 mm）。局限性狭窄组中，4例患者用涤纶补片呈泪滴状修补主动脉根部，1例患者纵向切开后简单横行缝合。弥漫性病变病例需用马裤形补片。无手术死亡病例，所有患者术后2周出院。所有患者均获得了25至30年（平均 = 27.7±2.19年）的临床随访；无晚期死亡病例，目前患者平均年龄为40±3岁。所有患者心功能均为Ⅰ级或Ⅱ级。通过超声心动图和彩色多普勒研究发现，泪滴形或马裤形补片患者在晚期压差、生存率或主动脉瓣关闭不全方面无显著差异。6例患者中，2例与父母或亲属生活在一起，但4例在残疾人农业学院工作并承担一定责任。我们得出结论，威廉姆斯-贝伦综合征患者主动脉瓣上狭窄矫正手术是必要的，两种补片技术手术均能提供良好的长期压差和主动脉瓣功能结果。此外，术后患者能够进行正常活动，生活方式和预期寿命令人满意。
