Margalit-Stashefski R, Lorber A, Margalit E
Family Practice Unit, Kupat Holim Klalit, Haifa.
Harefuah. 1998 May 15;134(10):762-4, 832.
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.
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。