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Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers

Inmaculada Pérez-Sánchez1, Antonio José Romero-Puche2, Esperanza García-Molina Sáez3

  • 1Unidad de Cardiopatías Hereditarias, Instituto Médico de Investigación Biosanitaria (IMIB-Arrixaca), Hospital Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain.

Revista Espanola De Cardiologia (English Ed.)
|July 9, 2017
PubMed

Insights

Men with sarcomeric mutations develop hypertrophic cardiomyopathy (HCM) earlier than women, while athletes are diagnosed sooner than sedentary individuals. Hypertension delays HCM diagnosis but does not affect disease severity.

Area of Science:

  • Cardiology
  • Genetics
  • Internal Medicine

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic disorder primarily caused by sarcomeric gene mutations.
  • The clinical presentation and disease progression of HCM can be influenced by various factors, leading to variable expression.
  • Understanding these modulators is crucial for predicting disease trajectory and age-related penetrance.

Purpose of the Study:

  • To investigate the influence of sex, systemic hypertension, and physical activity on disease severity in HCM.
  • To determine the role of these factors in the age-related penetrance of HCM.
  • To analyze the association between these factors and the age of diagnosis in individuals with HCM.

Main Methods:

  • A cohort of 272 individuals from 72 families with known causative mutations for HCM was evaluated.
  • Statistical analyses were performed to assess the relationship between sex, hypertension, physical activity, and left ventricular hypertrophy.
  • Age-related penetrance and diagnostic delay were analyzed in relation to the studied factors.

Main Results:

  • Men and individuals engaging in physical activity were diagnosed with HCM significantly earlier than women and sedentary individuals, respectively.
  • Systemic hypertension was associated with a delayed diagnosis of HCM.
  • None of the investigated factors (sex, hypertension, physical activity) showed a significant association with the severity of left ventricular hypertrophy or adjusted survival outcomes.

Conclusions:

  • Sex and physical activity levels impact the age of diagnosis for HCM in mutation carriers.
  • Hypertension is linked to a later diagnosis of HCM.
  • Despite influencing diagnostic timing, sex, hypertension, and physical activity do not appear to modify disease severity or survival in HCM.
Abstract

Keywords:
Actividad físicaFenotipoGenotipoGenotypeHipertensión arterialHypertensionHypertrophic cardiomyopathyMiocardiopatía hipertróficaPhenotypePhysical activitySexSexo

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