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Survival analysis and gender differences in hypertrophic cardiomyopathy proband patients referred for genetic testing

Rebeca Lorca1, María Salgado2, Rut Álvarez-Velasco2

  • 1Área del Corazón, Hospital Universitario Central Asturias, Oviedo 33011, Spain; Instituto de Investigación Sanitaria del Principado de Asturias, ISPA, Oviedo 33011, Spain; Departamento de Fisiología, Universidad de Oviedo, Oviedo 33003, Spain; Unidad de Cardiopatías Familiares, Área del Corazón y Departamento de Genética Molecular, Hospital Universitario Central Asturias, Oviedo 33011, Spain; Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORs), Madrid 28029, Spain.

International Journal of Cardiology
|May 6, 2024
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) survival rates did not differ overall, but women with HCM experienced excess mortality despite similar disease severity. This highlights a need to investigate gender-specific factors influencing outcomes in hypertrophic cardiomyopathy patients.

Area of Science:

  • Cardiology
  • Genetics
  • Public Health

Background:

  • Hypertrophic cardiomyopathy (HCM) is often perceived to have low mortality.
  • Potential gender influences on mortality rates, especially in probands, warrant investigation.
  • A homogeneous cohort of HCM probands with centralized genetic testing was selected.

Purpose of the Study:

  • To evaluate survival rates in a cohort of HCM probands.
  • To identify and analyze potential gender differences in mortality within this cohort.
  • To compare HCM proband survival with the general reference population.

Main Methods:

  • A cohort of consecutive HCM probands (2000-2022) from a Spanish region with centralized genetic testing was analyzed.
  • Mortality rates were compared to a control reference population using the Ederer II method.
  • Gender-specific differences in survival and clinical outcomes were assessed.

Main Results:

  • The study included 649 HCM probands, with a higher proportion of men (61.3%) diagnosed at an earlier age compared to women.
  • No significant gender differences were observed in clinical evolution or arrhythmogenic profiles.
  • While the overall HCM proband cohort showed no significant difference in mortality compared to the general population, female probands exhibited a significant excess mortality.

Conclusions:

  • HCM probands' expected survival aligns with the general reference population.
  • Despite similar phenotype severity, female HCM probands experienced diagnostic delays and poorer mortality outcomes.
  • Further research is needed to understand the reasons behind the excess mortality observed in female HCM patients.
Abstract

Keywords:
Gender differencesGeneticsHypertrophic cardiomyopathy (HCM)Life expectancy

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