Beneficial Effects of Cardiomyopathy-Associated Genetic Variants on Physical Performance: A Hypothesis-Generating Scoping Review

Cardiology. 2022;147(1):90-97. doi: 10.1159/000520471. Epub 2021 Oct 27.

Abstract

Background: Genetic variants associated with cardiomyopathies (CMPs) are prevalent in the general population. In young athletes, CMPs account for roughly a quarter of sudden cardiac death, with further unexplained clustering in specific sports. Consequently, most CMPs form a contraindication for competitive sports. We hypothesized that genetic variants might (paradoxically) improve physical performance early in life while impairing cardiac function later in life.

Methods: Systematic PubMed search was done to investigate whether genetic variants in genes associated with CMPs could be related to beneficial performance phenotypes.

Summary: In a limited number of studies (n = 6), 2,860 individuals/subjects with genetic variants were able to outperform those without said variants, as measured by running speed (∼38 m/min in heterozygous [HET] mice, n = 6, vs. ∼32 m/min in wild type [WT] mice, n = 7, p = 0.004) and distance (966 ± 169 km HET mice vs. 561 ± 144 km WT mice, p = 0.0035, n = 10), elite athlete status in endurance athletes (n = 1,672, p = 1.43 × 10-8), maximal oxygen uptake in elite athletes (absolute difference not provided, n = 32, p = 0.005), maximal oxygen uptake in unrelated individuals (n = 473, p = 0.0025), personal records in highly trained marathon runners (2:26:28 ± 0:06:23 min HET, n = 32, vs. 2:28:53 ± 0:05:50 min without polymorphism, n = 108, p = 0.020), and peripheral muscle force contraction in patients following a cardiac rehabilitation program (absolute values not provided, n = 260). Key Message: Beneficial effects in genetic variants associated with CMPs could hypothetically play a role in the selection of young athletes, consequently explaining the prevalence of such genetic variants in athletes and the general population.

Keywords: Cardiogenetic; Cardiomyopathy; Physical performance; Systematic review.

Publication types

  • Systematic Review

MeSH terms

  • Animals
  • Athletes
  • Cardiomyopathies* / genetics
  • Death, Sudden, Cardiac / etiology
  • Humans
  • Mice
  • Physical Endurance / genetics
  • Running* / physiology