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

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

Sjoerd M Verwijs  1 , Yigal M Pinto  1 , Diederik W D Kuster  2 , Jolanda van der Velden  2 , Jacqueline Limpens  3 , Juliette C van Hattum  1 , Saskia N van der Crabben  4 , Ronald H Lekanne Deprez  4 , Arthur A M Wilde  1 , Harald T Jørstad  1
Affiliations

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

Sjoerd M Verwijs et al. Cardiology. 2022.

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.

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Conflict of interest statement

All authors report that they have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Illustration of study purpose: to investigate whether genetic variants associated with cardiomyopathies relate to any specific beneficial performance phenotypes.
Fig. 2
Fig. 2
Search of published research.
Fig. 3
Fig. 3
Overview of beneficial effects of cardiomyopathy-associated genetic variants on physical performance.
See this image and copyright information in PMC

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