Abstract：
Williams syndrome (WS) is a rare congenital developmental disorder caused by the deletion of between 26 and 28 genes on chromosome 7q11.23. For patients with WS, in view of the particularity of the supravalvular aortic stenosis, choosing appropriate arterial cannula, maintaining higher perfusion pressure as well as strengthening myocardial protection during cardiopulmonary bypass (CPB) is essential to the clinical outcome. Here, we report a child with pulmonary artery valvular stenosis who failed to wean off CPB because of malignant arrhythmias and cardiac insufficiency after surgical correction of pulmonary valvular stenosis. With the assistance of extracorporeal membrane oxygenation (ECMO), emergency cardiac catheterization revealed supravalvular aortic stenosis (SVAS), which suggests a suspected missed diagnosis of WS. Finally, under the support of ECMO, the cardiac function gradually returned to normal, and the child was discharged 23 days after surgery.
摘要：
威廉姆斯综合征（WS）是一种罕见的先天性发育障碍，由染色体7q11.23上26至28个基因的缺失引起。对于患有WS的患者，鉴于主动脉瓣上狭窄的特殊性,选择合适的动脉插管，在体外循环（CPB）期间维持较高的灌注压以及加强心肌保护对临床结果至关重要。这里,我们报道了1例肺动脉瓣膜狭窄患儿,在手术矫正肺动脉瓣膜狭窄后,由于恶性心律失常和心功能不全,未能脱离CPB.在体外膜氧合（ECMO）的协助下，紧急心导管检查显示主动脉瓣上狭窄（SVAS），这表明怀疑是WS的漏诊。最后,在ECMO的支持下，心功能逐渐恢复正常,手术后23天，孩子出院。
