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1. A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia

Author

Lauren M. McKinney, DO, Mariah C. Clark, MS, Alexander R. Ellis, MD, MSc, and Samantha A. Schrier Vergano, MD

Subjects
cardiogenetics, congenital heart defects, genetic counseling, polyvalvular dysplasia, TAK1-binding protein 2, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

This case presents a family with multiple individuals diagnosed with congenital heart disease (CHD) secondary to a novel TAK1-binding protein 2 pathogenic variant. This case advocates the use of cardiovascular genetic testing in individuals with CHD as part of a comprehensive approach to managing infants with CHD. (Level of Difficulty: Advanced.)

Published
2023
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