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Updated: Sep 19, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Genotype-negative hypertrophic cardiomyopathy: Exploring the role of cardiovascular risk factors in disease

Stephan A C Schoonvelde1, Edgar E Nollet2, Peter-Paul Zwetsloot3

  • 1Department of Cardiology, Thorax Center, Cardiovascular Institute, Erasmus MC, Rotterdam, the Netherlands.

International Journal of Cardiology
|June 4, 2025
PubMed

Insights

Cardiovascular risk factors, especially hypertension, are more common in genotype-negative hypertrophic cardiomyopathy (HCM) patients, suggesting a role in disease development. These findings highlight genotype-negative HCM as a distinct clinical entity for improved patient management.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is a primary inherited myocardial disorder.
  • Genetic causes are identified in about half of HCM patients.
  • Previous studies noted clinical variations between genotype-positive (G+) and genotype-negative (G-) HCM patients.

Purpose of the Study:

  • To further investigate clinical differences between G+ and G- HCM patients.
  • To explore variations in cardiovascular risk factors (CVRF) and phenotypical factors.
  • To conduct subanalyses based on age groups and sex.

Main Methods:

  • Analysis of baseline characteristics in 422 HCM patients (46% G-, 54% G+).
  • Comparison of CVRF and phenotypical factors between G+ and G- groups.
  • Subgroup analyses by age and sex.

Main Results:

  • G- patients were older, had more severe cardiac symptoms, and higher rates of left ventricular outflow tract obstruction.
  • CVRF, particularly hypertension, were significantly more prevalent in G- patients (70% vs 41%).
  • CVRF presence independently predicted G- classification, even after adjusting for age.

Conclusions:

  • Increased CVRF, especially hypertension, in G- HCM suggests a contribution to disease development, independent of age.
  • Sex-based differences indicate potential female-specific factors influencing HCM development.
  • Recognizing G- HCM as a distinct entity may refine patient management and therapeutic strategies.
Abstract

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