Ebstein anomaly: Report of a familial occurrence and prenatal diagnosis |
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Authors: | Nathalie McIntosh David Chitayat Marietta Bardanis Jean-Claude Fouron |
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Affiliation: | 1. Department of Pediatrics, Division of Medical Genetics, The Montreal Children's Hospital, Montreal, Quebec, Canada;2. Center For Human Genetics, McGill University, Montreal, Quebec, Canada |
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Abstract: | 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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Keywords: | Ebstein anomaly autosomal recessive multifactorial congenital heart disease echocardiography |
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