Year: 2026
Type: article
Study design: Observational Study
Abstract: Elite athletes are often regarded as models of physical health representing the upper limit of cardiovascular adaptation to strenuous exertion. However, even after routine screening, athletes remain susceptible to cardiovascular events. This study provides a comprehensive analysis of clinical and genetic data collected from 7 500 athletes representing Russian national sports teams. All participants underwent comprehensive medical assessments. To compare a model-derived output across sports categories, activities were classified according to Mitchell’s classification. The hypertrophic cardiomyopathy (HCM) risk- sudden cardiac death (SCD) calculator was used solely as a comparative group-level index. Whole-genome sequencing was performed for all athletes to identify genetic variants associated with SCD. The key finding was an association between the Mitchell sports categories and the estimated comparative HCM Risk-SCD index. Group 2C had the highest estimated index; however, the study did not assess observed SCD events, and the results should not be interpreted as evidence of greater individual clinical risk. Genetic analysis has also highlighted the limited interpretability of pathogenic variants in isolation from phenotypic correlates. Pathogenic or likely pathogenic variants were identified in 1.6% of the cohort, and most carriers had no corresponding clinical phenotypes at assessment. These findings are hypothesis generating and require prospective outcome-based validation. This study provides hypothesis-generating evidence for further evaluation of integrated clinical and genetic assessments in athletes, and prospective outcome-based validation is required before the findings can inform screening or sports eligibility protocols.
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7204866301