Key result
Cardiogenetic testing identifies pathogenic variants in ~36% of athletes with suspected abnormalities, led by HCM.
Why the study?
Regular physical activity may entail increased risk in the presence of subclinical cardiac diseases. This study aimed to identify genetic variants in athletes referred for suspected cardiac abnormalities, assess associations with clinical characteristics, and perform follow-up.
Observational (n=94)
No
Cardiogenetic testing identified pathogenic or likely pathogenic variants—most commonly related to hypertrophic cardiomyopathy—in 36.1% of athletes referred for suspected cardiac abnormalities, supporting its role in risk stratification and safe sports participation assessment.
Introduction Regular physical activity has numerous health benefits; however, in the presence of certain subclinical cardiac diseases it may entail increased risk. Approximately 1 in 200 individuals in the general population carry pathogenic genetic variants that may predispose to cardiomyopathies or cardiac channelopathies. Aim We aimed to identify genetic variants in athletes referred for evaluation due to suspected cardiac abnormalities, to assess associations with clinical characteristics, and to perform follow-up. Methods We evaluated the cardiological and cardiogenetic results of cases referred to our high-volume centre between 01/01/2025 and 02/20/2026. Cardiogenetic testing was performed using the Illumina TruSight Cardio panel (174 genes) or targeted Sanger sequencing was applied for segregation testing. In a subset of patients with suspected structural heart disease, cardiac magnetic resonance (CMR; Siemens Magnetom Aera) was also performed. Patients were followed up clinically. Results During the study period, cardiogenetic testing was performed in 309 cases; 94 were regular athletes (70 male; mean age at suspicion of diagnosis 37±18 years; recreational: n=69, training 3.4±1.8 h/week; competitive: n=25, training 9.8±5.2 h/week). Most referrals were due to suspected structural cardiomyopathy or channelopathy; in 6 cases testing followed resuscitation or sustained ventricular tachycardia, and in two cases testing was done postmortem. Pathogenic/likely pathogenic variants were identified in 36.1% (n=34, 25 male), and variants of uncertain significance in 6.3% (n=6, 2 male). The most frequent pathogenic variants were associated with hypertrophic cardiomyopathy (HCM; MYBPC3 n=6; MYH7 n=6). Additionally, six cases suggested arrhythmogenic cardiomyopathy (DSP n=4; PKP2 n=2), four cases long QT syndrome (KCNQ1), and six cases dilated cardiomyopathy (DCM; TTN n=4; LMNA n=2). Postmortem testing identified pathogenic variants consistent with catecholaminergic polymorphic ventricular tachycardia (RYR2) and dilated cardiomyopathy (TTN). CMR was performed in 50 cases; late gadolinium enhancement was present in 37 cases. During follow-up, one death occurred in a recreational athlete; the patient did not consent to ICD implantation. Conclusion Pathogenic/likely pathogenic variants were found in 36.1% of the athletes, most commonly HCM-related. Cardiogenetic testing may play a key role in supporting clinical decision-making, risk stratification, and the assessment of safe participation in sports.
No takes yet. Share an insight, caveat, or question.
Mesko et al. (2026) conducted an observational in Suspected cardiac abnormalities (cardiomyopathies or cardiac channelopathies) in athletes (n=94). Cardiogenetic testing (Illumina TruSight Cardio panel or targeted Sanger sequencing) was evaluated on Identification of pathogenic or likely pathogenic cardiogenetic variants. Cardiogenetic testing in athletes referred for suspected cardiac abnormalities identified pathogenic or likely pathogenic variants in 36.1% of cases, most commonly related to HCM.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: