超声心动图诊断儿童威廉斯综合征的应用价值  

Application Value of Echocardiography in the Diagnosis of Williams Syndrome

作　　者：朱旭[1] 计晓娟[1] 余更生[1] 吴春[2] 白永虹[1] 程真莉[1] 黄红[1] 

机构地区：[1]重庆医科大学附属儿童医院心内科(心脏彩超室)儿童发育疾病研究教育部重点实验室儿科学重庆市重点实验室儿童发育重大疾病国家国际科技合作基地,重庆市400014 [2]重庆医科大学附属儿童医院心胸外科,重庆市400014

出　　处：《中国超声医学杂志》2017年第4期362-364,共3页Chinese Journal of Ultrasound in Medicine

基　　金：国家自然科学基金项目(No.81301300);重庆医科大学附属儿童医院疑难专项研究(No.hjyn2013-7)

摘　　要：目的威廉斯综合征(WS)常合并心血管异常,探讨超声心动图在临床快速筛查诊断此病的应用价值。方法选取我院超声心动图异常表现(如主动脉瓣上狭窄、肺动脉狭窄)患儿,结合美国儿科学会WS临床诊断评分法,筛出12例疑诊WS患儿,行相关基因检测,同时部分患儿接受CT血管成像对比,评价超声心动图在WS诊断中的应用价值。结果12例疑诊患儿中9例有小精灵面容,超声心动图发现主动脉瓣上狭窄最常见,占92%,其次为肺动脉狭窄占75%,合并房间隔缺损7例(7/12),占58%,室间隔缺损4例(4/12),占33%,主动脉缩窄2例(2/12),占17%。本组9例(9/12)美国儿科学会评分≥10分者基因检测存在WS相关基因微缺失。结论超声心动图特异度异常结合小精灵面容有利于提高筛查阳性率,可以较快速、准确诊断WS。Objective To discuss the clinical value of echocardiography in rapidly diagnosis of Williams syndrome, which is often associated with cardiovascular abnormalities. Methods From 12 suspected Williams syndrome cases were performed echocardiography in Childrents Hospital combined with the American pediatrics score. All pa tients had specific cardiovascular abnormalities, such as aortic stenosis, pulmonary valve stenosis. Genetic testing was followed in all patients. Part of patients underwent CT angiography and results were compared with echocardiography. The application value of echocardiography was evaluated. Results Among 12 children, 9 patients had an ＂elfin-like＂ face, and echocardiography showed aortic valve stenosis in 11 cases （92%）, pulmonary artery stenosis in 9 cases （75%）, ？ cases with atrial septal defect （58%）, 4 cases with ventricular septal defect （33%） and aortic constriction 2 cases （17%）. The American Academy of Pediatrics score of 9 cases （9/12） were greater than or equal to 10, which gene detection were found the related gene microdeletion of Williams syndrome. Conclusions It＇s feasible to rapidly and accurately diagnose Williams syndrome with echocardiography to observe specific cardiovascular abnormalities combined with ＂elfin-like＂ facial features.

关 键 词：超声心动图 威廉斯综合征 儿科学 美国儿科学会评分法 应用价值 

分 类 号：R540.45[医药卫生—心血管疾病] R725.9[医药卫生—内科学]