威廉斯综合征合并心血管畸形的影像诊断  

Imaging of cardiovascular malformations in Williams syndrome

作　　者：李世国[1] 赵世华[1] 蒋世良[1] 黄连军[1] 徐仲英[1] 凌坚[1] 郑宏[1] 闫朝武[1] 鲁锦国[1] 

机构地区：[1]中国医学科学院中国协和医科大学心血管病研究所阜外心血管病医院放射科,北京100037

出　　处：《中华放射学杂志》2008年第9期916-918,共3页Chinese Journal of Radiology

摘　　要：目的探讨威廉斯（Williams）综合征合并心血管畸形的影像诊断方法。方法13例Williams综合征患者，均行体检、心电图、X线胸片及超声心动图检查。3例行电子束CT、8例行心血管造影检查。结果12例患者因发现心脏杂音而就诊，1例因出生后紫绀而就诊。7例伴有“小精灵”面容同时合并轻度智力障碍，4例生长发育迟缓，所有患者均伴有主动脉瓣上狭窄，6例合并肺动脉狭窄，2例合并动脉导管未闭，2例合并重度肺动脉高压，1例合并完全型心内膜垫缺损。8例行心血管造影患者中，2例分别于造影即将结束时和造影完毕返回病房留观时发生心源性猝死。结论心血管造影是诊断Williams综合征合并心血管畸形的金标准，但其为有创检查，有发生猝死的危险，可尝试用无创或少创的诊断方法替代心血管造影。Objective To evaluate the imaging methods for cardiovascular malformations in Williams syndrome（WS）. Methods Thirteen cases of WS （7 males and 6 females） aged 10 months to 13 years were involved in this study. All patients underwent chest X-ray radiography, electrocardiography, echocardiography and physical examination. 3 cases underwent electronic beam computed tomography （ EBCT）, cardiac catheterization and angiography were performed in 8 cases. Results Twelve patients were referred to our hospital for cardiac murmur and 1 case for cyanosis after birth. 7 patients were found with ＂elfin-like＂ facial features, 6 patients with pulmonary arterial stenosis, 2 cases with patent ductus arteriosus, 2 eases with severe pulmonary hypertension and 1 case with total endocardial cushion defect. Sudden death occurred in 2 patients during and after catheterization, respectively. Conclusions Conventional angiography is the golden standard for the diagnosis of cardiovascular malformations in WS. Noninvasive methods such as MSCT and MRI should be suggested because of the risk of sudden death in conventional angiography.

关 键 词：威廉斯综合征 心血管畸形 诊断显像 猝死 

分 类 号：R686[医药卫生—骨科学]