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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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[Hypertrophic Cardiomyopathy and Ischemic Heart Disease. Variants of Combination Pathology]

V Y Kaplunova1, G A SHakaryants1, M V Kozhevnikova1

  • 1Federal State Budgetary Educational Institution of Higher Education "I. M. Sechenov First Moscow State Medical University" of the Ministry of Health of the Russian Federation.

Kardiologiia
|February 22, 2018
PubMed

Insights

Hypertrophic cardiomyopathy (HCMP) research explores its epidemiology, pathophysiology, and markers. Concomitant ischemic heart disease (IHD) significantly worsens HCMP prognosis and increases sudden death risk.

Area of Science:

  • Cardiology
  • Genetics
  • Epidemiology

Background:

  • Hypertrophic cardiomyopathy (HCMP) presents complex epidemiological and pathophysiological challenges.
  • Identifying additional clinical, instrumental, and genetic markers is crucial for understanding HCMP variants and prognosis.
  • Environmental factors influencing HCMP clinical presentation and outcomes require further investigation.

Purpose of the Study:

  • To explore the epidemiology and pathophysiology of hypertrophic cardiomyopathy (HCMP).
  • To identify novel clinical, instrumental, and genetic markers for HCMP.
  • To investigate environmental factors impacting HCMP clinical variants and prognosis.

Main Methods:

  • Review of current literature on HCMP epidemiology and pathophysiology.
  • Analysis of genetic markers related to neurohumoral systems.
  • Assessment of morphofunctional parameters and intracardiac hemodynamics.
  • Evaluation of concomitant pathologies, specifically ischemic heart disease (IHD).

Main Results:

  • The clinical course of HCMP is influenced by genetic markers and hemodynamic parameters.
  • Concomitant ischemic heart disease (IHD) affects approximately 10% of HCMP cases.
  • IHD exacerbates HCMP, complicates treatment selection, and elevates the risk of sudden death.

Conclusions:

  • Understanding HCMP requires integrating genetic, hemodynamic, and environmental factors.
  • The presence of ischemic heart disease (IHD) significantly worsens the prognosis for patients with hypertrophic cardiomyopathy (HCMP).
  • Episodes of ischemia and co-existing IHD markedly increase the risk of sudden cardiac death in HCMP patients.

Keywords:
hypertrophic cardiomyopathyischemic heart diseasemodifier gene polymorphismsmyocardial bridgingprognosis

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