Abstract Body (Do not enter title and authors here): Background: Current guidelines discourage athletes with a positive genetic test for arrhythmogenic cardiomyopathy (ACM) from participating in sports. The evidence that exercise may act as a disease-accelerator is most compelling for PKP2-mediated ACM. As such, shared decision making (SDM) and return-to-play (RTP) for athletes with ACM may be possible for some genotypes.
Objective: To examine the management, RTP, outcomes, and evolution of phenotype among athletes with genotype positive ACM.
Methods: A retrospective review of the electronic medical records was performed on all self-identified athletes with genotype positive ACM. They were evaluated, risk stratified, and treated in Mayo Clinic’s (MC) Windland Smith Rice Genetic Heart Rhythm Clinic.
Results: Among the 621 patients with genotype-positive ACM, there were 38 athletes [16 females (42%); mean age at either clinical diagnosis or positive genetic test 28 ± 19 years; mean follow-up 4 ± 4 years] participating in sports at all levels. The majority, 21 (55%), had PKP2-ACM and 7 (18%) had DSP-ACM. Prior to their first MC evaluation, 15 athletes (39%) were engaged in long distance running, swimming, cycling, or triathlons. Seven athletes (18%) had a non-lethal breakthrough cardiac event (BCE) after diagnosis, but prior to MC evaluation. During 150+ athlete-years of follow-up, there have been no ACM-associated deaths, but 5 athletes (13%) experienced a non-lethal BCE. Twenty-two athletes (58%) were phenotype negative at time of first MC evaluation including 10 endurance athletes (45%). Of these, 3 (14%) converted to phenotype positive (average age at conversion 25 ± 15 years), while 7/16 (44%) phenotype positive athletes exhibited further disease progression (average age at progression 32 ± 18 years). For these 10 athletes who either converted or progressed, treatment intensification included an ablation in 4, ICD in 2, and a heart transplant in 2. Seven resumed athletic activity in some capacity after conversion/progression and a non-lethal BCE occurred in 3.
Conclusions: This is the first single center cohort of patients with ACM being empowered to remain an athlete. In contrast to athletes with other genetic heart diseases (GHDs), these athletes have exhibited more cardiac events, although nonfatal, and higher rates of disease conversion/progression than our other GHDs. Further studies are needed to determine how to effectively and safely enable appropriate sports participation in genetically-mediated ACM