Arrhythmias & electrophysiology
Outcomes and Burdens to Return-to-Play for Phenotype Negative Athletes With a Genetic Heart Disease
Authors' conclusion
Despite possessing a GHD-associated variant, a GHD-associated cardiac event or death has not occurred in over 1,300 combined years of follow-up. RTP for most G+/P- athletes is safe. Restricting such athletes based solely on a positive genetic test result should be viewed as genetic discrimination.
Study context
- Population
- Self-identified athletes considered genotype positive but phenotype negative (G+/P-) for a genetic heart disease, treated in Mayo Clinic's Windland Smith Rice Genetic Heart Rhythm Clinic between July 2000 and November 2023, participating in sports at all levelsG+/P- athletes, 119 females (43%), mean age at diagnosis 15 ± 12 years, median follow up 32 months
- Participants
- 274 athletes
- Exposure
- Long QT syndrome (LQTS) vs catecholaminergic polymorphic ventricular tachycardia (CPVT) vs arrhythmogenic cardiomyopathy (ACM) vs hypertrophic cardiomyopathy (HCM)
- LQTSn = 231
- CPVTn = 19
- ACMn = 15
- HCMn = 9
- Outcome
- Diagnoses
Main finding
As reported in the abstract
Observational data: associations, not effects.
Further findings
Treatments initiated after first evaluation, required for return-to-play (RTP) approval
- Pharmacologic therapy
- 187; 68%
- Left cardiac sympathetic denervation
- 11; 4%
- Implantable cardioverter defibrillator
- 6; 2%
Intentional non-therapy strategy
- Athletes with intentional non-therapy strategy
- 76 athletes (27%)
Sought RTP approval following disqualification elsewhere
- Athletes who specifically sought RTP approval following disqualification elsewhere
- 53; 19%
Original publication
Outcomes and Burdens to Return-to-Play for Phenotype Negative Athletes With a Genetic Heart Disease. JACC Clin Electrophysiol. Published 14 May 2025. doi:10.
Summarised from the published abstract; every number is checked against it