JACC Clin Electrophysiol. 2026 Apr 3:S2405-500X(26)00216-1. doi: 10.1016/j.jacep.2026.02.021. Online ahead of print.
ABSTRACT
BACKGROUND: Current guidelines discourage sports participation for athletes with arrhythmogenic cardiomyopathy (ACM). However, the evidence that exercise is a disease-accelerator is most compelling for PKP2-mediated ACM.
OBJECTIVE: This study aims to examine management, return-to-play (RTP) decisions, outcomes, and phenotype evolution among athletes with genotype-positive ACM.
METHODS: A retrospective review of electronic medical record of 1,229 patients in our Arrhythmogenic/Dilated Cardiomyopathy Registry was used to identify self-identified athletes. They were evaluated, risk stratified, and treated at Mayo Clinic Windland Smith Rice Genetic Heart Rhythm Clinic between July 2000 and February 2025.
RESULTS: A total of 138 genotype-positive athletes with ACM were identified (58 women [42%], mean age of 31 ± 19 years, plakophilin [PKP2]-ACM [n = 61; 44%], desmoplakin [DSP]-ACM [n = 32; 23%]). After diagnosis of ACM, 34 athletes (25%) experienced at least 1 breakthrough cardiac event (BCE), accounting for a total of 68 events, and 6 patients experienced 14 BCEs following physician-approved RTP. During a median follow-up of 25 months (IQR: 6-71), the overall event rate for the entire cohort was 7.9 BCEs per 100 patient-years (95 % CI: 5.8-10.5), and the event rate after physician-approved RTP was 14.6 per 100 patient-years (95% CI: 7.8-24.9). During RTP period, one-half of these BCEs occurred during sports participation, whereas the remainder occurred at rest or unknown context.
CONCLUSIONS: This is the first single-center cohort of patients with ACM being empowered to RTP and remain athletes. These athletes have exhibited higher rates of BCEs and disease conversion/progression than our athletes with a variety of other genetic heart diseases. Further studies are needed to determine how to further guide safe sports participation in genetically mediated ACM.
PMID:41954551 | DOI:10.1016/j.jacep.2026.02.021