This case report documents a rare familial occurrence of severe Ebstein anomaly in siblings born to consanguineous parents.
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May inform genetic counseling in consanguineous families with congenital heart disease; leaves open specific recessive variants in Ebstein anomaly.
The Ebstein anomaly is a rare congenital heart disease involving the position and structure of the tricuspid valve. Although most cases are sporadic, familial occurrence has been documented. We report on 2 sisters, born to consanguineous parents, who were diagnosed prenatally with severe Ebstein anomaly.
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McIntosh et al. (1992) studied this question.
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