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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

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Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675

Farbod Sedaghat-Hamedani1,2, Elham Kayvanpour1,2, Oguz Firat Tugrul1,2

  • 1Institute for Cardiomyopathy, Department of Medicine III, University of Heidelberg, INF 410, 69120, Heidelberg, Germany.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society
|August 26, 2017
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) patients with MYH7 mutations experience earlier disease onset and more severe symptoms. Sarcomeric mutations increase the risk of sudden cardiac death (SCD) in HCM patients.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Epidemiology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent genetic cardiovascular disease associated with sudden cardiac death (SCD).
  • Understanding genotype-phenotype correlations is crucial for managing HCM, yet remains incomplete for many causal genes.

Purpose of the Study:

  • To conduct a comprehensive meta-analysis of genotype-phenotype associations in HCM patients.
  • To investigate the impact of mutations in MYBPC3, MYH7, TNNT2, and TNNI3 on clinical presentation and outcomes.

Main Methods:

  • Systematic literature retrieval from PubMed/Medline for genotype-phenotype studies in HCM.
  • Meta-analysis of data from 51 studies encompassing 7675 HCM patients.
  • Analysis of mutation frequencies, age at onset, sex distribution, and clinical outcomes.

Main Results:

  • MYBPC3 (20%) and MYH7 (14%) mutations were most frequent; TNNT2 and TNNI3 mutations occurred in 2% each.
  • MYH7 mutations were associated with significantly earlier disease onset and a more severe phenotype, including higher rates of cardiac conduction disease, ventricular arrhythmia, and heart transplantation.
  • Patients with sarcomeric mutations exhibited a significantly higher risk of sudden cardiac death (SCD).

Conclusions:

  • MYH7 mutations are linked to an earlier onset and more severe HCM phenotype compared to other sarcomeric mutations or mutation-negative cases.
  • Sarcomeric mutations, particularly MYH7, confer an increased susceptibility to sudden cardiac death in HCM patients.
  • This analysis reinforces the clinical significance of interpreting sarcomeric mutations in the management of hypertrophic cardiomyopathy.
Abstract

Keywords:
Genotype–phenotype correlationHypertrophic cardiomyopathySarcomeric mutations

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