结节性硬化症的超声心动图检查与遗传咨询
Echocardiography and genetic counselling in tuberous sclerosis.
作者信息
Webb D W, Thomas R D, Osborne J P
机构信息
Bath Unit for Research into Paediatrics, Royal United Hospital, Combe Park.
出版信息
J Med Genet. 1992 Jul;29(7):487-9.
OBJECTIVE
To assess echocardiography as an investigation for the detection of occult gene carriers in tuberous sclerosis.
PATIENTS
Sixty parents of children with tuberous sclerosis who had been extensively investigated for signs of the disease and 60 age and sex matched controls.
PROCEDURE
Blind study by two experienced echocardiographers and blind interpretation of video recordings by an adult cardiologist.
SETTING
Cardiology department of a district general hospital.
RESULTS
Two parents and three controls had bright echodense areas interpreted as possible rhabdomyomas.
CONCLUSIONS
In our hands echocardiography of adults is not an investigation with a high specificity for gene detection in tuberous sclerosis.
目的
评估超声心动图在检测结节性硬化症隐匿基因携带者中的应用价值。
患者
60名结节性硬化症患儿的父母，这些患儿已针对该疾病体征进行了广泛检查，以及60名年龄和性别匹配的对照者。
方法
由两名经验丰富的超声心动图医生进行盲法研究，并由一名成人心脏病专家对视频记录进行盲法解读。
地点
地区综合医院的心脏病科。
结果
两名患儿父母和三名对照者有明亮的回声致密区，被解读为可能的横纹肌瘤。
结论
在我们的研究中，成人超声心动图对结节性硬化症基因检测的特异性不高。
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