New research offers hope to elite athletes who have genetic heart conditions but still want to play sports.

In the new study, after a follow-up of seven years, researchers found that 95% of athletes with a diagnosed and treated genetic heart disease had no disease-triggered cardiac events. These would have included fainting or seizures, implantable cardio-defibrillator (ICD) shocks, sudden cardiac arrest or sudden cardiac death.

The researchers said the study was the first to assess the risk of potentially life-threatening arrhythmias (irregular heartbeat) among National Collegiate Athletic Association Division I and professional athletes with heart conditions that can increase the risk of sudden cardiac death, such as hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS).

Although people who have these heart conditions are often advised to avoid vigorous exercise and many are disqualified from sports, the findings suggest that may not be necessary.

“This initial data set offers a story of hope and encouragement,” said Katherine Martinez, who conducted the study as an intern in the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory. “With shared decision-making and appropriate risk stratification by an expert, we expect anybody of any age can live and thrive despite their diagnosis.”

For players and fans alike, witnessing an athlete experience heart trouble can be traumatic, such as when Buffalo Bills safety Damar Hamlin suffered cardiac arrest during a Jan. 2 game. Although he hasn’t talked in detail about his health issues, Hamlin had been hit hard in the chest moments before he collapsed on the field.

For the study, the researchers analyzed health records from 76 athletes who had genetic heart disease and were playing at the Division I or professional level.

About 53% had HCM, an abnormal thickening of the heart muscle, while one-quarter had LQTS, a genetic arrhythmia syndrome.

About 52% of the athletes had not had symptoms before their heart issues were discovered, often during a pre-season screening. About one-quarter had been diagnosed after experiencing symptoms such as fainting, palpitations or shortness of breath.

The other athletes in the study were diagnosed due to family history or an unrelated event. About one-third of the athletes had an ICD, which is a device that can deliver an electric shock to restore a normal heartbeat when a life-threatening irregular heartbeat is detected.

Only three of the athletes, about 4% of the total in the study, had a non-lethal cardiac episode related to their genetic heart disease. Fainting was the most common. One of these three patients received an appropriate ICD shock. No athletes died, according to the report.

Study athletes played basketball, hockey, track, triathlon and soccer. About 28% were women. They were racially and ethnically diverse.

About three-quarters of the athletes in the study had been initially disqualified from sports because of their diagnosis, but ultimately were able to return to play.

These findings underscore the need for a shared decision-making model in which athletes with genetic heart disease work together with specialized genetic cardiologists and sports cardiologists, the researchers said.

Together they can assess risks and benefits and make evidence-informed decisions.

The results could also inform policies for teams and athletic organizations to ensure appropriate medical evaluation without unnecessarily excluding athletes from participation based only on their genetic heart disease diagnosis.

The findings were presented Monday at the American College of Cardiology’s annual meeting, in New Orleans. Findings presented at medical meetings should be considered preliminary until published in a peer-reviewed journal.

“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,” senior study author Dr. Michael Ackerman, a genetic cardiologist at Mayo Clinic in Rochester, Minn., said in a meeting news release. “[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.’”

It will be important for athletes to work with an expert who is experienced with genetic heart diseases, the study authors emphasized. A rigorous assessment is necessary to understand a patient’s specific condition and risk level, they said.

While high-profile tragedies can influence how coaches, doctors and the public view the health risks posed by genetic heart diseases, being overly restrictive can have serious and sometimes fatal downsides for the athletes, including risk of severe depression and self-harm, the researchers said.

Having an emergency action plan in place and equipment such as an automated external defibrillator (AED) on hand can also help to mitigate any risks, the team noted.

A study limitation was that it used retrospective data.

More information

The American Heart Association has information on genetic testing for heart diseases.

SOURCE: American College of Cardiology, news release, March 6, 2023