New Study Suggests Restricting Athletes from Play Solely Based on Genetic Heart Disease Test Results Can Negatively Impact Quality of Life

BOSTON, MA, MAY 16, 2024 – For the last few decades, a diagnosis of a genetic heart disease (GHD) often meant automatic disqualification from sports. In recent years, researchers have been working to change this practice by growing the body of evidence that supports a safe return-to-play for these athletes. A new study indicates that restricting athletes with a genetic heart disease from play based solely on a positive genetic test result can negatively impact social connections and cause a decline in athletes' physical and mental health. Researchers presented the findings of this study today during Heart Rhythm 2024.

Approximately one in 50,000 to one in 80,000 athletes experience sudden cardiac death (SCD) annually, making it the leading medical cause of death for athletes, especially young athletes¹. Current guidelines surrounding return-to-play for athletes who are genotype positive but phenotype negative (G+/P-) are variable and often challenging. Recommendations for return-to-play depend on individual diagnoses, ranging from return-to-play with monitoring for conditions like hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS) to automatic disqualification from sports for catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic cardiomyopathy (ACM).

This retrospective cohort study examined the prevalence, management, and outcomes of athletes with a positive genetic test but a negligible clinical phenotype. Researchers reviewed the electronic medical records of all patients seen in Mayo Clinic's Windland Smith Rice Genetic Heart Rhythm Clinic from July 2000 through November 2023 who self-identified as athletes and had a positive genetic test for a known SCD-predisposing GHD but did not show any significant clinical evidence for that particular condition. The study included athletes participating in sports at all levels who were G+/P, with diagnoses including LQTS (84%), CPVT (7%), ACM (6%) and HCM (3%). Researchers found that treatments required for return-to-play approval included pharmacologic therapy (67%), left cardiac sympathetic denervation (4%) or an implantable cardioverter defibrillator (2%). For a quarter of athletes, an intentional non-therapy strategy with monitoring and preventative measures only was implemented. Despite their return to full competition after establishing their treatment plan, no athletes experienced a genetic heart disease-associated cardiac event or death in over 1,300 combined years of study follow-up.

Notably, nearly 1 in 5 of these athletes had been disqualified elsewhere. Disqualification can be detrimental for athletes, adversely affecting their social connections, physical and mental health and sometimes their education through the loss of scholarships.

"As we know, navigating a return-to-play for athletes with a known sudden-death predisposing heart condition can be challenging, especially for cardiologists lacking expertise in genetic heart diseases and sports cardiology. In the past, it was in a sense easier, as it was deemed prudent to "if in doubt, kick them out,'" says Dr. Michael Ackerman, MD, PhD, director of the Windland Smith Rice Genetic Heart Rhythm Clinic at Mayo Clinic, Rochester, Minnesota, and senior author of this study. "However, for the past two decades, physicians have embraced shared decision-making and have overseen the successful return of 800 athletes ranging from little leaguers to professional athletes. Today's work focuses exclusively on the subset of athletes with a so-called G+/P- substrate and hopefully the results will put an end to genetic discrimination for these athletes.  It is simply unacceptable and wrong to disqualify an athlete from all sports based solely on a positive genetic test result." 

Session Details

Clinical Electrophysiology: Genetics in the Electrophysiology Clinic: Outcomes and Burdens to Return to Play for Phenotype Negative Athletes with a Genetic Heart Disease-Associated Positive Genetic Test [Saturday, May 18, 2024 at 9:30 am ET]

¹ Semsarian C, Sweeting J, Ackerman M J. Sudden cardiac death in athletes BMJ. 2015; 350: (Mar 18 19) doi:10.1136/bmj.h1218

###