Should athletes with genetic heart disease play competitive sport? The ball should be in their court.

Professor Michael Ackerman

Genetic discrimination has been in play for decades for athletes with genetic heart disease predisposing them to sudden cardiac death (SCD).

In an informative and thought-provoking RT Hall Lecture at CSANZ 2022, Professor Michael Ackerman said early guidelines disqualifying such athletes from competitive sport were not based on any evidence.

He suggested some of the “If in doubt, kick them out” mentality through the 1990s and early 2000s was perhaps based more on cardiologists’ fear of being sued should they sign off on an athlete returning to play who subsequently experienced an event.

Professor Ackerman, director of the Mayo Clinic’s genetic heart rhythm clinic, said the tragedies of sudden cardiac death in young athletes were always sadly memorable.

However there was now a welcome shift from simply disqualifying athletes to a “screen, identify, treat and keep” approach embedded in shared decision making with the athlete and their family.

He said the first US guidelines in 1994 ruled out competitive sport completely for someone with genetic heart disease such as long QT syndrome. Subsequent guidelines in 2005 still restricted people with genetic heart disease, who had experienced an event such as on-field syncope, from most sports.

Yet the evidence was finally starting to emerge demonstrating that events were less common than perceived.

A 2012 study in 353 children and young adults with long QT syndrome found 12% provided with sufficient information to enable an informed decision, chose to discontinue sports.

In those participating in sports within or contrary to guidelines, the overall rate of events per athlete-year was 0.003.

One child, non-adherent to recommended beta-blockers, had two sport-related events requiring ICD shocks over 650 athlete-years.

Professor Ackerman said by 2015, US guidelines had relaxed to endorse a return to play after 3-months – allowing time for clinical and genetic evaluation, risk stratification, treatment and a fully-informed shared decision.

He said the evidence was continuing to build.

In 2018, a Mayo Clinic study of 366 athletes with a diagnosis of genetic heart disease found an event rate of only 2.8% – all non-lethal – in those who had returned to play compared to 14% of those who quit competitive sport.

A likely explanation was that athletes were more likely to be carefully adherent to medications and other advice than former athletes.

A 2021 Mayo Clinic study of 672 athletes with SCD-predisposing genetic heart disease found no sports-related mortality and 5.9% experienced a non-lethal cardiac event during 2,056 years of follow-up.

Of those, only 3.0% were athletes at the time of the breakthrough cardiac event – an event rate was 1.16 nonlethal events per 100 athlete-years of follow-up.

“We shouldn’t recklessly let any athlete with any heart condition do anything. That would be wrong. We should have the mindset that every athlete with a heart condition may have options on the table that previously we had slammed the door shut on,” Professor Ackerman told the limbic.

Professor Ackerman also asked cardiologists to refer athletes with genetic heart disease to sports or genetic cardiologists who were best placed to manage risk stratification and the tailoring of appropriate therapy.

“Just like nobody would want me doing their coronary stent or their pulmonary vein isolation procedure because I am not trained or skilled in that…the issues are quite nuanced and patients deserve somebody for whom this is what they eat, sleep, think and do.”

He said in the US there was an overuse of ICDs in patients with genetic heart disease which could be comfortably and confidently treated with alternatives including medications or simple surgeries depending on the condition.

Professor Ackerman said beyond competitive sport, all patients should be encouraged to be active.

“For too long we have directly or indirectly told children, adolescents or young adults with long QT syndrome to stay on the couch. We have inadvertently promoted a very unhealthy heart lifestyle and we are going to pay the piper for that recommendation…..sedentary, overweight individuals when all along we could have let them be very active.”

The NIH-funded LIVE-HCM study, which has sites in Australia and New Zealand, will provide more evidence on the role of exercise in children and adults with genetic heart disease.

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