Heat-Related Illness in Athletes

O’Connor, Francis G.; DeGroot, David W.

doi:10.1001/jama.2024.9991

JAMA

2024

DOI: 10.1001/jama.2024.9991

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Heat-Related Illness in Athletes

Francis G. O’Connor,

David W. DeGroot

Abstract: This JAMA Insights discusses heat-related illness in athletes, including risk factors, prevention, symptoms, and management.

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2024

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Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity

Sambuughin,

Mungunsukh,

Klein

et al. 2024

IJMS

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Environmental heat stress represents a pervasive threat to warfighters, athletes, and occupational workers, impacting performance and increasing the risk of injury. Exertional heat illness (EHI) is a spectrum of clinical disorders of increasing severity. While frequently predictable, EHI can occur unexpectedly and may be followed by long-term comorbidities, including cardiovascular dysfunction and exercise intolerance. The objective of this study was to assess genetic factors contributing to EHI. Whole-exome sequencing was performed in a cohort of 53 cases diagnosed with EHI. Rare variants in prioritized gene sets were analyzed and classified per published guidelines. Clinically significant pathogenic and potentially pathogenic variants were identified in 30.2% of the study cohort. Variants were found in 14 genes, including the previously known RYR1 and ACADVL genes and 12 other genes (CAPN3, MYH7, PFKM, RYR2, TRPM4, and genes for mitochondrial disorders) reported here for the first time in EHI. Supporting structural and functional studies of the TRPM4 p.Arg905Trp variant show that it impairs the thermal sensitivity of the TRPM4 channel, revealing a potentially new molecular mechanism contributing to EHI susceptibility. Our study demonstrates associations between EHI and genes implicated in muscle disorders, cardiomyopathies, thermoregulation, and oxidative phosphorylation deficiencies. These results expand the genetic heterogeneity of EHI and shed light on its molecular pathogenesis.

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Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity

Sambuughin,

Mungunsukh,

Klein

et al. 2024

IJMS

View full text Add to dashboard Cite

show abstract

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Heat-Related Illness in Athletes

Abstract: This JAMA Insights discusses heat-related illness in athletes, including risk factors, prevention, symptoms, and management.

Cited by 1 publication

References 11 publications

Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity

Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity

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