Grajeda Javier, Mubarak Amir N, Ardebol Javier, Grajeda Guillermo
Medical Research, Universidad Francisco Marroquin, Guatemala, 01010, Guatemala.
Departamento de Pediatria, UNICAR, Guatemala, 01010, Guatemala.
J Surg Case Rep. 2022 Nov 28;2022(11):rjac527. doi: 10.1093/jscr/rjac527. eCollection 2022 Nov.
Characterized by congenital heart defects (CHD) and elfin-like facies, Williams-Beuren syndrome (WS) is a multisystemic disorder that occurs approximately in 1 in 10 000 newborns [1]. WS is caused by a contiguous gene microdeletion of the Williams Beuren syndrome critical region (WBSCR) on chromosome 7q11.23, resulting in an abnormal elastin gene (ELN). There is a wide range of CHD in patients with WS, with supravalvular aortic stenosis (SAS) being the most common, and atypically the atrial septal defect (ASD) [2]. Few reports and reviews have linked the appearance of ASD to WS. Thus, data on the management of ASD secondary to WS is not well-documented. The following case report consists of the diagnosis and management of an ASD in a pediatric patient with WS.
威廉姆斯-贝伦综合征（WS）以先天性心脏缺陷（CHD）和小精灵样面容为特征，是一种多系统疾病，在每10000名新生儿中约有1例发病[1]。WS由7号染色体长臂11.23区域威廉姆斯-贝伦综合征关键区域（WBSCR）的连续性基因微缺失引起，导致弹性蛋白基因（ELN）异常。WS患者存在多种类型的CHD，其中最常见的是主动脉瓣上狭窄（SAS），而非典型的房间隔缺损（ASD）[2]。很少有报告和综述将ASD的出现与WS联系起来。因此，关于WS继发ASD的治疗数据记录并不充分。以下病例报告包含了一名患有WS的儿科患者ASD的诊断和治疗情况。
