Related Experiment Video

Updated: Sep 2, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.5K

A double heterozygous variant in MYH6 and MYH7 associated with hypertrophic cardiomyopathy in a Japanese Family

Takanori Suzuki1,2, Kazuyoshi Saito1,2, Tetsushi Yoshikawa2

  • 1Department of Pediatric Cardiology, Aichi Children's Health and Medical Center, Aichi, Japan.

Journal of Cardiology Cases
|August 1, 2022
PubMed

Insights

Genetic variants in MYH7 and MYH6 genes are linked to severe hypertrophic cardiomyopathy (HCM) phenotypes in a Japanese family. These double variants may explain severe cardiovascular events in affected individuals.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Heterogeneity of HCM

Background:

  • Hypertrophic cardiomyopathy (HCM) is a complex cardiac condition with diverse genetic underpinnings.
  • Numerous variants in genes encoding cardiac sarcomeric proteins have been implicated in HCM pathogenesis.

Observation:

  • A Japanese family presented with severe clinical manifestations of HCM.
  • Affected members carried a double variant: a heterozygous missense variant (c.2191 C>A p. Pro 731 Thr) in the MYH7 gene and a heterozygous frameshift variant (c.1091-1092 insTGAA p.Lys364fs*) in the MYH6 gene.

Findings:

  • The identified double variants in MYH7 and MYH6 genes were well-segregated within the family.
  • These combined genetic variants correlated with severe phenotypes, including sudden cardiac death and heart failure.

Implications:

  • The study suggests that combined MYH7 and MYH6 variants may contribute to specific, severe phenotypes in hypertrophic cardiomyopathy.
  • Further research is warranted to elucidate the precise functional consequences of these double variants in HCM development and progression.

Keywords:
Cardiac sarcomeric protein genesHeterozygous missense variantHypertrophic cardiomyopathy

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