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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

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Heritability of left atrial size in the Tecumseh population.

P Palatini1, J Amerena, S Nesbitt

  • 1University of Michigan, MI, USA. palatini@unipd.it

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Genetic factors play a role in determining left atrial size. This study found a definite, though small, heritable component influencing left atrial dimensions in families.

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Area of Science:

  • Cardiology
  • Genetics
  • Echocardiography

Background:

  • Determinants of left atrial size are not well understood.
  • The role of genetic factors in left atrial enlargement (LAE) has not been previously investigated.

Purpose of the Study:

  • To investigate the heritability of left atrial size.
  • To determine if genetic factors contribute to the pathogenesis of left atrial enlargement.

Main Methods:

  • Echocardiographic left atrial dimension was measured in 290 parents and 251 children from the Tecumseh Blood Pressure and Offspring Studies.
  • Measurements followed American Society of Echocardiography guidelines using leading-edge-to-leading-edge technique.
  • Statistical models adjusted for clinical variables including age, gender, height, weight, skinfold thickness, systolic blood pressure, left ventricular mass, and diastolic function.

Main Results:

  • Parent-child correlation for left atrial size was 0.19 (P = 0.007) after adjusting for basic clinical variables.
  • Correlation increased to 0.25 (P = 0.001) after further adjustment for left ventricular mass and diastolic function.
  • These findings suggest a statistically significant, albeit modest, genetic influence on left atrial dimensions.

Conclusions:

  • Heredity accounts for a small but significant proportion of the variance in left atrial dimension.
  • Genetic factors are implicated in the determination of left atrial size.
  • Further research into the specific genetic mechanisms is warranted.