Suppr超能文献

[埃布斯坦畸形的家族性发病情况]

[Familial occurrence of Ebstein anomaly].

作者信息

Margalit-Stashefski R, Lorber A, Margalit E

机构信息

Family Practice Unit, Kupat Holim Klalit, Haifa.

出版信息

Harefuah. 1998 May 15;134(10):762-4, 832.

Abstract

Ebstein anomaly is a rare congenital disease which affects location, structure and mobility of the tricuspid valve, and right atrium and ventricle. Although most cases are sporadic, familial occurrence has been reported. We report 2 brothers born with Ebstein anomaly. The parents were first degree cousins and there were 8 other children. 2 daughters were born with other congenital heart anomalies, 1 with ventricular septal defect and the other with severe pulmonary artery stenosis. We suggest that in some families, Ebstein anomaly is an autosomal dominant disease with different expression in the sexes.

摘要

埃布斯坦畸形是一种罕见的先天性疾病,会影响三尖瓣以及右心房和右心室的位置、结构和活动。虽然大多数病例是散发性的,但也有家族性发病的报道。我们报告了2例患有埃布斯坦畸形的兄弟。其父母是一级亲属,还有其他8个孩子。2个女儿患有其他先天性心脏畸形,1个患有室间隔缺损,另1个患有严重的肺动脉狭窄。我们认为,在某些家族中,埃布斯坦畸形是一种常染色体显性疾病,在性别上有不同表现。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验