Related Experiment Video

Updated: Apr 15, 2026

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

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Epigenetics, Modifiers, and Molecular Noise: Rethinking Pathophysiology in Dilated and Hypertrophic Cardiomyopathies

Miruna Mihaela Micheu1, Eugeniu Catlabuga2, Alexei Leahu2

  • 1Department of Cardiology, Clinical Emergency Hospital of Bucharest, 8, Calea Floreasca, 014461 Bucharest, Romania.

International Journal of Molecular Sciences
|April 14, 2026
PubMed

Insights

Genetic factors and environmental influences create complex cardiomyopathies, challenging traditional views. Understanding this intricate genetic architecture is key for personalized treatments and better patient outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Epigenetics

Background:

  • Cardiomyopathies are myocardial disorders with complex causes.
  • Traditional Mendelian genetics fail to explain variability in disease presentation and outcomes.
  • Emerging evidence points to a multifactorial etiology involving genetics, epigenetics, and environment.

Purpose of the Study:

  • To review the complex genetic architecture of hypertrophic and dilated cardiomyopathies.
  • To examine how epigenetic mechanisms, genetic modifiers, and molecular noise challenge classical pathophysiology.
  • To discuss the implications for risk stratification, genetic counseling, and personalized therapies.

Main Methods:

  • Literature review focusing on hypertrophic and dilated cardiomyopathies.
  • Critical analysis of genetic, epigenetic, and environmental factors.
  • Examination of molecular noise and its role in disease manifestation.

Main Results:

  • Cardiomyopathy development is influenced by rare variants, common genetic variation, epigenetics, and environmental factors.
  • These factors contribute to significant phenotypic heterogeneity, disease severity, and progression.
  • Classical pathophysiology concepts are challenged by this complex interplay.

Conclusions:

  • A multilayered genetic architecture underlies cardiomyopathies.
  • This understanding is crucial for refined risk stratification and improved genetic counseling.
  • Personalized and potentially variant-agnostic therapeutic strategies can be developed.

Keywords:
dilated cardiomyopathyepigeneticshypertrophic cardiomyopathymodifiermolecular noise

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