McKenna Adrian J, Craig Brian, Graham Alastair N
Department of Cardiothoracic Surgery, Royal Victoria Hospital, Belfast Health & Social Care Trust, Belfast, Northern Ireland.
J Card Surg. 2010 May;25(3):339-42. doi: 10.1111/j.1540-8191.2010.01020.x.
We report a case of a diagnosis of Williams syndrome in a 57-year-old male referred for cardiac surgery with a presumptive diagnosis of aortic valvular stenosis and ascending aortic aneurysm, supravalvular stenosis being first suspected during surgery. Williams syndrome was subsequently confirmed via genetics testing. In patients presenting with an ascending aortic aneurysm, developmental delay, and with poorly visualized coronary arteries during angiography, the diagnosis of supravalvular aortic stenosis or Williams syndrome should be considered.
我们报告了一例57岁男性患者，因心脏手术前来就诊，初步诊断为主动脉瓣狭窄和升主动脉瘤，术中首次怀疑有瓣上狭窄。随后通过基因检测确诊为威廉姆斯综合征。对于出现升主动脉瘤、发育迟缓且血管造影时冠状动脉显影不佳的患者，应考虑诊断为瓣上主动脉狭窄或威廉姆斯综合征。
