Kalis Neale Nicola, Sulaibikh Leena Khalifa, Al Amer Saud Rashid, Al Amer Haya Yousif
Mohammed Bin Khalifa Bin Salman Al Khalifa Cardiac Center, Bahrain Defense Force Hospital, Manama, Kingdom of Bahrain.
Heart Views. 2017 Jan-Mar;18(1):21-25. doi: 10.4103/1995-705X.206205.
Williams-Beuren syndrome is a multisystem genetic disorder caused by hemizygous deletion on chromosome 7q11.23, encompassing about 28 genes including the elastin gene, ELN. Cardiovascular abnormalities are frequent and are related to elastin insufficiency. These abnormalities include supravalvular aortic stenosis (SVAS) in 70% of case, pulmonic valve stenosis, and renal artery stenosis. Definitive therapy for supravalvar aortic stenosis consists of surgical correction of the arteriopathies. Outcomes after surgical correction of SVAS depend on the extent of the arteriopathy and the presence of other associated lesions. We present a case of a 4-year-old boy, with Williams - Beuren syndrome with an SVAS. The patient was assessed with computerized tomography angiography to determine the extent of the aortopathy before surgical intervention.
威廉姆斯-贝伦综合征是一种多系统遗传性疾病，由7号染色体长臂11.23区域的半合子缺失引起，该区域包含约28个基因，包括弹性蛋白基因ELN。心血管异常很常见，与弹性蛋白不足有关。这些异常包括70%的病例出现主动脉瓣上狭窄（SVAS）、肺动脉瓣狭窄和肾动脉狭窄。主动脉瓣上狭窄的确定性治疗包括对动脉病变进行手术矫正。SVAS手术矫正后的结果取决于动脉病变的程度和其他相关病变的存在情况。我们报告一例患有威廉姆斯-贝伦综合征并伴有SVAS的4岁男孩病例。在手术干预前，对该患者进行了计算机断层血管造影评估，以确定主动脉病变的程度。
