家族性主动脉瓣上狭窄：两兄弟的病例报告。
Familial supravalvular aortic stenosis: a report of two brothers.
作者信息
Wu J R, Chen Y H, Huang T Y
机构信息
Department of Pediatrics, Kaohsiung Medical College, Taiwan, Republic of China.
出版信息
Kaohsiung J Med Sci. 1996 Feb;12(2):128-31.
We studied two brothers in a family with isolated congenital supravalvular aortic stenosis without Williams syndrome. Clinical, echocardiographic, hemodynamic and angiographic features of our cases were described. A severe long, narrowed supravalvular aortic stenosis involving the ascending aorta with proximal narrowing of the aortic branches and mild aortic insufficiency were found. To the best of our knowledge, this is the first report of this combination of lesions in the Orient.
我们研究了一个家族中两名患有孤立性先天性瓣上主动脉狭窄且无威廉姆斯综合征的兄弟。描述了我们病例的临床、超声心动图、血流动力学和血管造影特征。发现严重的长段狭窄性瓣上主动脉狭窄累及升主动脉，伴有主动脉分支近端狭窄以及轻度主动脉瓣关闭不全。据我们所知，这是东方地区关于这种病变组合的首例报告。
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