A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia

Lauren M McKinney; Mariah C Clark; Alexander R Ellis; Samantha A Schrier Vergano

doi:10.1016/j.jaccas.2023.101837

A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia

JACC Case Rep. 2023 Apr 19:14:101837. doi: 10.1016/j.jaccas.2023.101837. eCollection 2023 May 17.

Authors

Lauren M McKinney¹, Mariah C Clark², Alexander R Ellis^{1

3}, Samantha A Schrier Vergano^{1

2}

Affiliations

¹ Eastern Virginia Medical School, Department of Pediatrics, Norfolk, Virginia, USA.
² Children's Hospital of the King's Daughters, Division of Medical Genetics, Norfolk, Virginia, USA.
³ Children's Hospital of the King's Daughters, Division of Cardiology, Norfolk, Virginia, USA.

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.).

Keywords: TAK1-binding protein 2; cardiogenetics; congenital heart defects; genetic counseling; polyvalvular dysplasia.

Publication types

Case Reports