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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 Williams syndrome (WS) often associated with cardiovascular abnormalities, echocardiography in clinical rapid screening diagnostic value of the disease. Methods In our hospital, 12 children with suspected WS were screened out for detection of abnormal genes (such as aortic stenosis and pulmonary artery stenosis) in combination with the American Society of Pediatrics WS Clinical Diagnostic Grading Scale. At the same time, Children underwent CT angiography compared to evaluate the application of echocardiography in the diagnosis of WS. Results Nine of 12 children with suspected etiology had elf face. Echocardiography found that the most common aortic stenosis was 92%, followed by 75% of pulmonary stenosis and 7 cases with atrial septal defect (7/12) , Accounting for 58%. Ventricular septal defect in 4 cases (4/12), accounting for 33%. Aortic stenosis in 2 cases (2/12), accounting for 17%. The group of 9 cases (9/12) American Academy of Pediatrics score ≥ 10 points of genetic testing there WS-related gene microdeletions. Conclusion Abnormal echocardiography combined with elf face can improve the positive rate of screening, which can be used to diagnose WS quickly and accurately.