An infant with suspected missed diagnosis of Williams syndrome failed weaning off CPB after surgical correction of pulmonary stenosis: a case report and literature review

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.

Case Report: Rapid and progressive left ventricular endocardial calcification in an infant with Williams syndrome

“…The patient had poor cardiac function, and electrocardiogram indicated myocardial ischemia. Although the combination of high end-diastolic pressure due to severe SVAS coupled with coronary artery stenosis can result in decreased coronary artery perfusion pressure and myocardial ischemia ( 12 ), ultimately resulting in cardiac dysfunction and papillary muscle and endocardial calcification, it often takes a long time to develop. In the present study, echocardiography showed no significant coronary artery stenosis, so the decrease in cardiac function and endocardial calcification could not be explained by SVAS alone.…”