40例威廉斯综合征患者心血管疾病研究

Cardiovascular manifestations in 40 patients with Williams syndrome

目的通过荧光原位杂交技术确诊威廉斯综合征患者,评估患者的心血管系统患病情况。方法从2004年7月至2007年1月对临床疑似的71例患者应用荧光原位杂交技术检测7号染色体上是否包括弹性蛋白基因(ELN)的微缺失来确诊该病。心脏 B 超检查明确患者的心血管系统疾病。结果荧光原位杂交技术检测结果显示40例患者存在7号染色体上的待检基因微缺失,31例患者未检测到基因缺失。25例患者(25/40,62.5%)有至少1项心血管系统疾病,包括主动脉瓣上狭窄18例(18/25,72%),其中6例为复合畸形。动脉导管未闭3例(3/25,12%,2例为单纯动脉导管未闭,1例为复合畸形),2例行动脉导管未闭弹簧圈封堵术,1例接受动脉导管结扎术。单纯肺动脉狭窄1例(1/25,4%),单纯主动脉缩窄2例(2/25,8%),高血压2例(2/25,8%)。结论威廉斯综合征患者心血管畸形发病率高,对每例患者都应仔细检查心血管系统并定期随访。

Objective To evaluate the cardiovascular menifestations of Williams syndrome （WS） confirmed by fluorescence in situ hybridization （FISH）. Methods Between July 2004 and January 2007, FISH was used to confirm diagnosis in 71 suspected WS cases by detecting chromosome 7q microdeletion. Cardiovascular abnormalities were assessed by echocardiography and Doppler echocardiography. Results Forty out of 71 patients were detected to have Elastin gene locus microdeletion, 25 patients （25/40, 62. 5% ） had at least one cardiac anomaly; among these patients, supravalvular aortic stenosis （SVAS） was diagnosed in 18 patients （18/25, 72% ） and 6 of them had complex abnormalities. Patent ductus arteriosus was diagnosed in 3 patients （3/25, 12%, 1 was associated with other malformations） , isolated pulmonary stenosis in 1 patient （1/25, 4%）, isolated coarctation of aorta in 2 patients （2/25, 8%）, and hypertension in 2 patients （2/25,8%）, mild aortic regurgitation in 2 patients, mild mitral regurgitation and moderate mitral regurgitation in 3 patients respectively. Conclusion A detailed cardiac evaluation should be performed in all patients with Williams syndrome due to the high frequency of cardiovascular abnormalities.