Phenotype-negative athletes with genetic heart disease OK to play sports
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Key takeaways:
- Athletes with positive test for genetic heart disease but no or negligible phenotype had no cases of death or cardiac events at 4 years.
- The study supports a shared decision-making process for return to play.
No athlete with a positive test for genetic heart disease but a negligible clinical phenotype had a genetic heart disease-associated death or cardiac event in more than 1,500 person-years of follow-up, researchers reported.
The results were presented at Heart Rhythm 2024 by Katherine A. Martinez, BS, an incoming MD/PhD student at Mayo Clinic Alix School of Medicine.
“Phenotype-negative means that the standard objective marker that’s used to define the presence of the disease of interest is not there,” Michael J. Ackerman, MD, PhD, professor of pharmacology, medicine and pediatrics and holder of the Windland Smith Rice Cardiovascular Genomics Research Professorship at Mayo Clinic and the senior author of the study, told Healio. “For example, if it’s a long QT syndrome mutation, their 12-lead ECG at rest is normal. There may be subtle expressions of the disease variant such that we can’t declare them nonpenetrant. This study is part of an ongoing effort. The law of the land has basically been ‘when in doubt, kick them out.’ When I joined Mayo Clinic staff in 2000, I was perplexed as to why are we dealing with athletes with these conditions in this punitive default of disqualification, where the guidelines leaned toward unless your heart is perfect, you are disqualified. I felt we should be addressing the issue the same way we address so much of medicine, which is shared decision-making. If the well-informed decision is, yes, I want to stay an athlete, and if I feel that’s feasible, doable and not reckless, then I should help navigate return to play and not be the obstacle or barrier that guarantees the young person won’t get to return to play. Our work has given the evidence to say, yes, we can do this. Most of the work that has been published is on patients with obvious, overt phenotype-positive disease. It would make sense that those who are phenotype-negative would be at even lower risk. But nobody had ever actually looked at that, because we had looked at it as ... if it’s safe for those who show disease to play, it’s of course going to be safe for those who only have a positive genetic test to play. We were asked for data supporting how low risk it is, and there was a paucity of data, but we had 800 patients I have been following, so we could look at the subset of athletes who only had a positive genetic test. The impetus was to fill in what ought to be an obvious observation.”
Low-risk cohort
The cohort included 345 genotype-positive but phenotype-negative athletes (mean age at diagnosis, 15 years; 44% female) who participated in sports at all levels. The population was followed for an average of 4 years and 70% had hypertrophic cardiomyopathy, 6% had catecholaminergic polymorphic ventricular tachycardia, 4% had arrhythmogenic cardiomyopathy and 3% had hypertrophic cardiomyopathy, whereas 17% were dismissed as normal. In addition, 19% came to Mayo Clinic after being disqualified from sports participation elsewhere.
Among the cohort, 57% received pharmacologic therapy, 3% received left cardiac sympathetic denervation, 2% received an implantable cardioverter defibrillator and 23% had implemented an intentional nontherapy strategy, according to the researchers.
In more than 1,500 combined years of follow-up, there were no genetic heart disease-associated deaths or cardiac events, the researchers found.
“The risk is, as expected, super low, as in zero,” Ackerman told Healio. “However, one out of every five of these athletes had been disqualified already when they came to us. There has gradually been a level of support for return to play that has been emerging, and despite that, we have had a slow uptake in the lowest of low-risk group, whom we have confirmed is the lowest of low risk. Many cardiologists just are not comfortable with ... a positive genetic test for diseases that have been implicated in sudden cardiac death. It’s just outside their comfort zone. Often, when it is outside of our comfort zone, we tend to overtreat and over restrict. This could help empower the cardiologist ... to get these athletes to a center that studies athlete heart conditions. Refer, don’t restrict.”
‘Genetic discrimination ... needs to stop’
Ackerman also said the results confirm a statement he has made during past presentations: “Those who would disqualify from all competitive sports based solely on a positive genetic test result are practicing genetic discrimination. That needs to stop. We need to guide and route rather than just kick them out.”
The findings could lead to “athletes not getting sidelined for extended periods of time,” Ackerman told Healio. “Those who resign themselves to their predicament because a cardiologist told them they are done should be empowered to get another opinion.”
For more information:
Michael J. Ackerman, MD, PhD, can be reached at ackerman.michael@mayo.edu; X (Twitter): @mjackermanmdphd.
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Martinez KA, et al. Abstract CE-482906-004. Presented at: Heart Rhythm 2024; May 16-19, 2024; Boston.
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