FAMILIAL SUPRAVALVULAR AORTIC STENOSIS
FAMILIAL SUPRAVALVULAR AORTIC STENOSIS
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DOI：
10.1001/archpedi.1964.02090010343002
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发表时间：
1964-01-01
影响因子：
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通讯作者：
BOITO, A
中科院分区：
文献类型：
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作者：
EISENBERG, R;YOUNG, D;BOITO, A
对两个家族的三代人，包括近100人，进行了主动脉瓣上狭窄的调查。本组有5例确诊病例，8例可通过存在杂音和震颤暂定诊断，9例因典型的主动脉杂音而可疑。在这些家系中发现的这种病变的高发生率是家族性主动脉瓣上狭窄综合征的非常有力的证据。从现有数据中还不清楚确切的继承模式。两个家系均未发现马凡-S综合征的证据。两个家系的部分成员均有合并肺瓣或周围性狭窄的证据。
Three generations in 2 families, comprising almost 100 persons, have been investigated for the presence of supravalvular aortic stenosis. In this group, there are 5 proven cases, 8 more cases in which the diagnosis may be made tentatively by the presence of a murmur and thrill, and 9 others which are suspect by the presence of a typical aortic murmur. The high incidence of this lesion found in these families is very strong evidence for a syndrome of familial supravalvular aortic stenosis. The exact mode of inheritance is not clear from the data available. No evidence of Marfan''s syndrome has been found in either family. Evidence of associated pulmonary valvular or peripheral stenosis was found in some members of both families.