Related Experiment Video

Updated: Jun 22, 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

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Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy

Søren K Nielsen1,2,3, Frederikke G Hansen1,2, Torsten B Rasmussen4

  • 1Department of Cardiology, Odense University Hospital, Odense, Denmark.

JACC. Advances
|June 28, 2024
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) shows similar disease expression in relatives carrying pathogenic variants. Family screening and follow-up are crucial for managing HCM and reducing adverse cardiac events.

Area of Science:

  • Cardiovascular Genetics
  • Genetic Cardiology
  • Molecular Cardiology

Background:

  • Limited data exists on hypertrophic cardiomyopathy (HCM) disease expression in relatives of affected individuals.
  • Understanding familial disease patterns is vital for effective family screening, genetic counseling, and patient management.
  • Implications for family screening, genetic counseling, and management of HCM families are significant.

Purpose of the Study:

  • To investigate disease expression and penetrance in relatives of index patients with hypertrophic cardiomyopathy (HCM).
  • To analyze relatives carrying pathogenic/likely pathogenic (P/LP) variants in known HCM genes.
  • To assess clinical characteristics and major adverse cardiac events (MACE) in affected relatives.

Main Methods:

  • Clinical and genetic investigations were performed on 453 HCM index patients.
  • 903 relatives of genotype-positive index patients were invited for clinical and genetic testing.
  • Penetrance, disease expression, and MACE incidence rates were evaluated in P/LP variant carriers.

Main Results:

  • Forty percent of index patients carried a P/LP variant; 54% of relatives tested carried a P/LP variant.
  • HCM penetrance among relatives was 39%.
  • No significant differences in age at diagnosis, clinical characteristics, or MACE incidence were observed between index patients and affected relatives.

Conclusions:

  • Disease expression in hypertrophic cardiomyopathy (HCM) is similar between index patients and relatives carrying P/LP variants.
  • Affected relatives and index patients have an equal risk of major adverse cardiac events (MACE).
  • Findings support family screening and follow-up for genotype-positive HCM families to improve management and reduce complications.
Abstract

Keywords:
cardiomyopathyfollow-up studiesgenetic counselinggenotypehypertrophicpenetrance

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