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Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian

Olga S Chumakova1,2, Tatiana N Baklanova1, Natalia V Milovanova3

  • 1Moscow Healthcare Department, City Clinical Hospital 17, 119620 Moscow, Russia.

Genes
|November 25, 2023
PubMed

Insights

This study highlights the clinical and genetic features of hypertrophic cardiomyopathy (HCM) in Russian patients, revealing distinct genetic variants and a need for improved implantable cardioverter-defibrillator (ICD) use and mortality management in this population.

Area of Science:

  • Cardiology
  • Genetics
  • Inherited Cardiac Diseases

Background:

  • Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder with significant clinical and genetic variability.
  • Ethnic underrepresentation in research may obscure distinct population-specific characteristics.
  • Understanding the landscape of HCM in diverse populations is crucial for comprehensive patient care.

Purpose of the Study:

  • To investigate the clinical presentation and genetic underpinnings of hypertrophic cardiomyopathy (HCM) in a Russian patient cohort.
  • To identify prevalent genetic variants and assess their association with clinical outcomes.
  • To evaluate treatment patterns and mortality rates within this specific population.

Main Methods:

  • Clinical evaluation of 193 Russian patients with hypertrophic cardiomyopathy (HCM).
  • Prospective follow-up for outcome assessment.
  • Genetic sequencing analysis of 176 probands to identify causative variants.

Main Results:

  • 48% of patients had obstructive HCM, with 68% presenting comorbidities.
  • Genetic analysis identified causative variants in 38% of patients, with several recurrent variants noted.
  • Thin filament variant carriers showed a worse prognosis for heart failure (HR = 7.9, p = 0.007).

Conclusions:

  • The Russian HCM population exhibits a relatively high mortality rate and low utilization of implantable cardioverter-defibrillators (ICDs).
  • Specific recurrent genetic variants suggest a potential founder effect within this cohort.
  • Further family studies on rare variants can enhance global understanding of hypertrophic cardiomyopathy (HCM).

Keywords:
FLNCMYBPC3MYH7RussianSlavicTPM1geneticshypertrophic cardiomyopathyspecific characteristicsunderrepresented population

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