Elite Athletes With Genetic Heart Disease Can Return to Play With Expert Care

March 16, 2023

Athletes with a diagnosed genetic heart disease should not automatically be banned from participating in elite-level sports, as has previously been recommended, according to the results of a new study.

For the study, researchers analyzed health records from 76 elite athletes with a genetic heart disease who were playing at the Division I or professional level and found that over an average follow-up period of 7 years, only three athletes (4%) experienced a cardiac episode related to their genetic heart disease, with syncope being the most common event. One of these three patients received an appropriate implantable cardioverter defibrillator (ICD) shock, and no athletes died.

"We found that after careful evaluation by an expert, risk stratification, and shared decision-making, an exercise plan can be put into place for Division I and professional athletes to return to play," study author Katherine A. Martinez, an undergraduate student at Loyola University in Baltimore, said.

Martinez, who conducted the study as an intern in the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory, presented the results at the at the recent American College of Cardiology (ACC) Scientific Session/World Congress of Cardiology (WCC) 2023.

"The guidelines used to be that unless your heart is perfect, you can't do anything, but these results suggest that we should change that message," said Michael Ackerman, MD, a genetic cardiologist at Mayo Clinic in Rochester, Minnesota, and senior author of the study.

"Clinicians should be encouraging most of our patients to exercise. It's not, 'Can you play or not?,' but it's, 'Let's figure out an exercise plan for you,' " he added.

In her presentation, Martinez explained that one of the most important questions in sports medicine at present is whether shared decision-making practices used by experts to evaluate athletes with genetic heart diseases potentially allow them to return to play.

The Bethesda Conference guidelines released in 2005 stated that phenotype-positive athletes with genetic heart diseases should be disqualified from all sports except for class IA sports. This limited these athletes to bowling, cricket, curling, golf, riflery, and yoga for any phenotype-positive athlete with a genetic heart disease. These guidelines were not based on observational data; rather, they were created out of an abundance of precaution regarding diseases that have a potential for exercise-induced sudden death risk.

In 2012, the first study of its kind was published. It involved 130 athletes with long QT syndrome (LQTS) who were competing in sports against the guidelines advice, after treatment optimization and shared decision-making. The investigators reported a rate of LQTS-triggered cardiac events during sports of only 1 per 331 athlete-years, Martinez noted.

Another recent study included 670 athletes with a genetic heart disease who were given approval to return to play after engaging in shared decision-making, risk stratification, and treatment optimization at Mayo Clinic. This study reported no sports-related mortality and a genetic heart disease–associated nonlethal breakthrough cardiac event of rate of 1.68 per 100 athlete-years of follow-up.

The current study investigated the same question, but this time with regard to elite athletes who had a genetic heart disease.

For the study, researchers identified and evaluated all (76) patients who had a genetic heart disease and were playing at the Division I or professional level from the Mayo Clinic, Morristown Medical Center, Massachusetts General Hospital, Atrium Health, and Sanger Heart and Vascular Institute.

Of the 76 athletes included, 49 (64%) were athletes in Division I, and 27 (36%) were professional athletes. About half (53%) had hypertrophic cardiomyopathy (HCM), and a quarter had LQTS.

Slightly more than half of the athletes (52%) had no symptoms prior to their diagnosis and were flagged after an abnormal cardiac evaluation, usually during preseason screening. About a quarter had been diagnosed after experiencing symptoms such as syncope, palpitations, or shortness of breath. The rest of the athletes were diagnosed on the basis of family history or an unrelated event. About one third of the athletes had an ICD.

The athletes included in the analysis played a range of sports, including basketball, hockey, track, triathlon, and soccer. They reflected a diversity of racial and ethnic backgrounds, and 28% of the athletes were female. About three-quarters had been initially disqualified from sports on the basis of their diagnosis but ultimately were able to return to play.

In total, 73 of 76 athletes (96%) chose to return to play, but four of these were still not allowed to return to their sport by their institution, despite being encouraged to do so by their cardiologist.

Over an average follow-up period of 7 years, no athletes died, and only three athletes (4%) experienced a cardiac episode related to their genetic heart disease.

The first athlete was male with HCM and played Division 1 basketball; he had an ICD and was taking beta-blockers. He experienced an ICD shock when moving furniture.

The second athlete was male with LQTS and played Division 1 hockey. He was being treated with beta-blockers and experienced syncopal episodes when coming off the bench and while cooking. The third athlete was male with HCM and plays professional hockey. He was taking a beta-blocker and experienced syncope on exertion.

Martinez concluded that the findings underscore the need for a shared decision-making model in which athletes with genetic heart disease work together with genetic cardiologists and sports cardiologists to assess risks and benefits and make evidence-informed decisions, rather than setting blanket rules or standard guidance for all people with these conditions.

The discussant of the study at the ACC late breaking clinical trials session, James Sawalla Guseh, MD, Massachusetts General Hospital, described the presentation as "an Important contribution to sports cardiology."

He added: "I think historically we have been paternalistic in sports cardiology and deemphasized patient preference and risk tolerance. However, we know that athletes come from all walks of life; they are intelligent; and when there is scientific uncertainty, their values should be incorporated into medical decision-making."

Commenting on the study at an ACC press conference, Eugene Chung, MD, University of Michigan, said this study "highlights that a well-organized approach focused on shared decision-making can make return to play very low risk."

However, he pointed out that the study involved four centers that had expertise in these genetic heart conditions, and he stressed the importance of working with an expert who is experienced in this field.

Chung also noted that while 72% of these athletes were initially disqualified, 96% chose to return to play when given the opportunity through this protocol. "This could be extremely important for health and well-being of our athletes," he concluded.

American College of Cardiology (ACC) Scientific Session/World Congress of Cardiology (WCC) 2023: Late Breaking Clinical Trials. Presented March 6, 2023.

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