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Updated: Jul 31, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia

Lauren M McKinney1, Mariah C Clark2, Alexander R Ellis1,3

  • 1Eastern Virginia Medical School, Department of Pediatrics, Norfolk, Virginia, USA.

JACC. Case Reports
|May 8, 2023
PubMed

Insights

A novel genetic variant in TAK1-binding protein 2 causes congenital heart disease (CHD) in a family. Cardiovascular genetic testing is recommended for infants with CHD for comprehensive management.

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Congenital heart disease (CHD) is a common birth defect.
  • Genetic factors play a significant role in the etiology of CHD.
  • Identifying specific genetic causes can improve diagnosis and management.

Keywords:
TAK1-binding protein 2cardiogeneticscongenital heart defectsgenetic counselingpolyvalvular dysplasia

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