היארעות משפחתית של מום אבשטיין

תקציר

Familial Occurrence of Ebstein Anomaly

Ruti Margalit-Stashefski, Avraham Lorber, Eyal Margalit

Family Practice Unit, Kupat Holim Klalit, Haifa, Pediatric Cardiology Unit, Rambam Hospital, Haifa and Ophthalmology Dept., Hadassah--University Hospital, Jerusalem

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.