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NEW ORLEANS -- Elite college and professional athletes diagnosed with genetic heart disease can still suit up, provided a comprehensive return-to-play protocol is implemented, a retrospective study suggested.

Among 76 elite athletes, only 4% opted not to return to play after comprehensive clinical evaluation and shared decision making, reported Katherine Martinez, of the Windland Smith Rice Sudden Death Genomics Laboratory at the Mayo Clinic in Rochester, Minnesota.

Five percent were cleared to return by experts, but remained disqualified due to a decision by the team's medical professionals, she noted during her late-breaking presentation at the American College of Cardiology annual meeting.

Three patients had one or more breakthrough cardiac events following return to play, Martinez said. In one case, a college basketball player who had been fitted with an implantable cardioverter-defibrillator was shocked into rhythm when he experienced heart rhythm disturbances while moving furniture.

Martinez told MedPage Today that 23 players included the study had the implanted devices, and this one incident was the only time that the device fired. "It was an appropriate activation of the device," she noted, pointing out that an athlete didn't have to be playing in order to have an event.

Another athlete, a professional hockey player who had hypertrophic cardiomyopathy, experienced syncope while working out, while another hockey player, this one playing for a Division I team, experienced two events related to long QT syndrome: a fainting episode coming off the bench in the game, which he did not play, and another while he was preparing macaroni and cheese, Martinez said.

Of the 76 athletes, 49 of whom were playing for Division I colleges and universities in the U.S. and 27 of whom were playing for professional sports teams, 63% were asymptomatic prior to diagnosis.

Of note, 55 athletes were initially disqualified from competitive sports activities, but opted to return to play after undergoing comprehensive clinical evaluation and shared decision making with families, teams, and others, including agents.

"After careful evaluation by an expert, risk stratification, and shared decision making, our data show that a plan can be put into place for Division I and professional athletes for return to play safely despite having been diagnosed with genetic heart disease," Martinez said.

"A comprehensive return-to-play protocol is essential in an athlete's safe return to play and must include adherence to prescribed treatments, a personal external defibrillator, annual follow-ups and risk evaluation, and open communication with school, organization, and athletic directors," she added.

Martinez conducted the study while she was an intern at the Mayo Clinic, under the supervision of co-author Michael Ackerman, MD, PhD, a genetic cardiologist there.

"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 Ackerman. "[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.'"

Commenting on the study at a press conference, designated discussant Eugene Chung, MD, chairman of the ACC's Sports and Exercise Leadership Council, said, "Athletes diagnosed with genetic cardiomyopathies have either been fully restricted or partially restricted from participation in competitive sports, and, I think, this study highlights that a well-organized shared decision can make return to play achievable. People who are taking care of athletes should feel that it is absolutely okay to seek another opinion or referral and to get as many players in the care team to do the best for the player. It is extremely important for the well-being and mental health of these athletes."

He noted that most of the deaths among players with genetic heart disease occur in those who had been undiagnosed and therefore untreated. "After they are diagnosed and treated, they can do almost anything they want, if there is a plan," he said.

"I have been almost 100% successful in getting high schools to sign off on players participating at that level after a plan is in place, and I've been almost that successful at the Division II and Division III levels in college," Chung added, explaining that there can be resistance at the Division I and professional levels, and as a clinician "you have to be ready to inform the family and the athlete of that possibility."

For this study, the researchers followed athletes under care at the Mayo Clinic, Morristown Medical Center in New Jersey, Massachusetts General Hospital in Boston, and Atrium Health's Sanger Heart and Vascular Institute in Charlotte, North Carolina.

Of the athletes, 55 were men, and mean age at diagnosis of genetic heart disease was 19. Mean age at return to play was 19.9. Over 50% of athletes had hypertrophic cardiomyopathy, and 26% had long QT syndrome.

Genetic testing for elite athletes has been standard of care for about a decade, Ackerman said.

Co-author Matthew Martinez, MD, director of Atlantic Health System Sports Cardiology at Morristown Medical Center, and father of the lead author, told MedPage Today that the diagnosis and treatment of genetic heart disease is a complicated process, and "we are not advocating uniform testing in high schools at this time, [but] I think this may happen in the future."

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