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Updated: Mar 13, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

Robert J Sicko1, Marilyn L Browne2,3, Shannon L Rigler4,5

  • 1Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, United States of America.

Plos One
|October 28, 2016
PubMed
Summary

Genetic factors, including copy number variants and sequence variants, are implicated in Ebstein anomaly (EA), a rare congenital heart defect. This study identified 35 candidate copy number variants and rare sequence variants in EA cases, suggesting altered myocardial development pathways.

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