Studies Support (Careful) Return to Sport for Athletes With Genetic Conditions

NEW ORLEANS, LA – Two new studies, including one involving elite athletes playing at the professional or collegiate level, are helping people with genetic heart disease return to their respective sports or participate in vigorous physical activity.

The studies, presented Monday at the 2023 American College of Cardiology/World Congress of Cardiology (ACC/WCC) meeting, suggest that a diagnosis should not automatically preclude individuals with genetic heart disease from physical activity.

Instead, said Rachel Lampert, MD (Yale University School of Medicine, New Haven, CT), the lead investigator of a large, prospective study of people with hypertrophic cardiomyopathy (HCM), the data should “encourage discussions between patients and physicians about vigorous exercise of the disease.” Participate in the expert assessment and management of HCM using an individualized framework for shared decision-making.

James Sawalla Guseh, MD (Massachusetts General Hospital, Boston, MA), one of the panellists during the final session of the clinical trials, said that physicians have historically been patronizing of patients with genetic heart disease who wanted to participate or continue to participate in physical participation High level activity. In doing so, they have weakened patient preference and risk tolerance, he said.

“We know that athletes come from all walks of life,” said Guseh. “They are intelligent, and when there is scientific uncertainty, their values ​​should inform medical decision-making.”

Katherine Martinez (Loyola University, Chicago, IL), who retrospectively studied collegiate and professional athletes who returned to gaming after being diagnosed with HCM, long QT syndrome (LQTS), and other abnormalities, added that her data suggest no such thing that there is an unacceptably high event rate for those getting back into their respective sports.

“The evidence we present contradicts the notion that this is unacceptable risk behavior‘ Martinez said. “We are not suggesting that this is the only way to protect athletes. We continue to advocate the continued use of manual CPR and AEDs to add another layer of protection,” she said.

Speaking to the media during an afternoon press briefing, Eugene Chung, MD (University of Michigan, Ann Arbor), a member of the ACC Sports and Cardiology Council, said the two presentations will “move the needle” when it comes to the management of Elite athletes and weekend warriors with heart defects, as well as those who just want to stay physically active. “As recently as 20 years ago, we had very restrictive guidelines for many hereditary conditions when returning to the game,” he said.

Now, these data, along with other ICD studies published over the past decade, suggest that HCM, as well as other inherited diseases, may not represent the magnitude of risk of sudden cardiac death in athletes as previously thought.

Since the 2005 Bethesda conference, which helped formulate the early recommendations for exercise and physical activity in patients with cardiovascular abnormalities, subsequent eligibility and disqualification recommendations for competitive athletes with HCM and LQTS have attempted to balance safety with limitations with a focus on shared decision-making. For example, the 2015 guidelines state that it makes sense for asymptomatic patients with genotype-positive HCM, but no evidence of LV hypertrophy, to participate in competitive sports (class IIa, evidence level C). However, they go on to say that athletes with probable or definite HCM and clinical evidence of LV hypertrophy should probably not participate in most competitive sports, with the exception of low-intensity sports such as bowling, cricket, curling, golf, rifle shooting, and yoga.

Speaking to the media during the ACC press conference, Lampert said that while the physical and psychological benefits of exercise are well documented, increased concerns about ventricular arrhythmias and sudden cardiac death have led to earlier restrictions on vigorous exercise for people with HCM. However, that recommendation didn’t have much data to back it up, she said, noting that prospective, comparative results on the safety of vigorous exercise were lacking.

LIVE HCM

In the LIVE-HCM study, conducted at 42 sites in the United States, United Kingdom, Australia and New Zealand, researchers prospectively studied 1,660 patients with a clinical diagnosis of HCM or those who were genotype-positive with no evidence of LV hypertrophy. A total of 699 people participated in vigorous physical activity, defined as physical activity with METS ≥ 6 for 60 hours or more per year.

Overall, the researchers observed no difference in the rate of the primary composite endpoint of death, resuscitated cardiac arrest, syncope, or appropriate shock by an ICD between those who participated in vigorous activity and those who did not (15.9 vs. 15.3 Events per 1,000 people – years). In a Cox proportional hazards model, there was no significant difference in risk between the vigorous physical activity group and those who were less active (HR 1.01; 95% CI 0.68-1.48). This met the statistical definition of non-inferiority (upper limit for HR 1.5). Individual event rates were similar in the fit and non-fit groups, but the numbers were small and too infrequent for meaningful comparisons.

The evidence we present contradicts the notion that this is unacceptable risk behavior. Catherine Martinez

In a post hoc analysis limited only to those with overt HCM, there was no statistical difference in risk of the primary endpoint between the fit and non-fit groups. However, this comparison missed the non-inferiority limit (HR 1.06; 95% CI 0.72-1.55).

Jonathan Kim, MD (Emory University School of Medicine, Atlanta, GA), one of the panellists during the late-breaking session, said the world of sports cardiology has been waiting for data like this for several years. However, he pointed out that vigorous exercise, as defined in this study, roughly corresponds to the 75 minutes of vigorous activity per week recommended by the American Heart Association (AHA). This type of activity is very different from that pursued by elite-level collegiate and professional athletes.

In response, Lambert noted that the study included 259 people who engaged in vigorous physical activity at a competitive level. Even in this analysis, there was no increased risk of death, resuscitated cardiac arrest, syncope, or appropriate shock from an ICD compared to those who did nonstrenuous activity. They also included 56 athletes who competed at the high school or college level, and while the event rate is low, they haven’t had an opportunity to examine these patients in depth, Lampert said.

Chung said that while LIVE-HCM shows that intense exercise carries a low risk for patients with HCM, he stressed that all patients are treated by hospitals with experts in hereditary genetic abnormalities.

“We have to take care of the disease as well as we have been,” he said. “Risk assessment, shared decision-making, close follow-up, contingency plans are important parts of athlete care.”

NCAA and professional athletes

In the second study, Martinez and colleagues focused exclusively on elite athletes who competed at the college or professional level.

They identified 76 patients with a genetic heart condition, including 40 with HCM and 20 with LQTS, who returned to gaming after diagnosis. In addition to HCM and LQTS, other diagnoses included dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and idiopathic ventricular fibrillation.

Of the athletes (72% male), 49 played Division I sports in the National Collegiate Athletic Association (NCAA) and 27 played professionally. The median age at diagnosis was 19 years and 63% of athletes were asymptomatic at diagnosis. The majority of athletes (72%) were initially banned from practicing their sport after diagnosis.

In total, three athletes decided to stop playing after their evaluation and discussion with experts. Four other athletes were allowed back into their sport, but the team’s medical professionals refused them entry. Of the remaining athletes, three (4%) had a “breakthrough cardiac event” during the 200 years of follow-up.

A 21-year-old male college basketball player with HCM experienced ICD shock while moving furniture, and a 21-year-old male college hockey player with LQTS had two episodes of syncope with seizures (one came off the hockey bench and the other during dinner). make). The third athlete, a 23-year-old professional ice hockey player, experienced syncope during practice.

Matthew Martinez, MD (Atlantic Health System/Morristown Medical Center, NJ), the senior author of the study, said the return-to-play protocol is based on the patient’s initial assessment and individual treatment plan. After that, if there is unanimous support – a buy-in that includes the patient, family, coaches, school administrators and more – then the patient can return to their respective sport. They are then evaluated every year to assess risks and possible treatments.

“It’s about an exercise schedule,” Martinez said, adding that that includes ongoing monitoring.

Michael Ackerman, MD, PhD (Mayo Clinic, Rochester, MN), another senior author, said almost all clinical events occur in undiagnosed and untreated patients. “Once it’s found and treated, they can do almost anything they want,” he told TCTMD. “Of course there are limits. The conversation with the athlete is very stage dependent. There’s a lot going on.” Ackerman added that most Division II or III schools will allow the student to play again if everyone involved has a buy-in.

“It’s completely different at the Division I or professional level,” he said. “It’s at these levels that it starts to shift from shared decision-making to what some of us call BDM, a business decision-making model.”