Study Evaluates Abnormal Heart Activity and Genetic Factors Among Elite Athletes

A study involving 281 elite athletes from Australia and Belgium found that one in six had heart measurements that would normally suggest reduced heart function. Genetic analysis further revealed that athletes also have an increase in genes associated with heart muscle disease.

The results, reported by a research group in Australia and Belgium, show that a genetic predisposition can be “stressed” by exercise that causes major changes in the heart. The international collaboration will continue to monitor the athletes in the long term to determine their heart health outcomes.

The findings highlight the need for closer monitoring of heart health in elite athletes, suggests associate professor Andre la Gerche, PhD, who heads the HEART Laboratory jointly supported by St. Vincents Institute in Melbourne and the Victor Chang Cardiac Research Institute in Sydney. We discovered that one out of six athletes has reduced the heart’s pumping action, as well as showing for the first time the role of genetics in the action of the heart in these athletes, added la Gerche. We want to keep our athletes healthy and prevent them from suffering sudden cardiac arrest. The more we understand the heart of athletes, the more we can recognize the risks before tragedy strikes.

La Gerche and colleagues reported their findings in Circulationin a paper titled, Reduced Ejection Fraction in Elite Endurance AthletesClinical and Genetic Overlap with Dilated Cardiomyopathy.

Athletes generally enjoy excellent health, the authors wrote, but a minority have severe structural and functional changes in the heart that call for consideration of underlying heart pathology. Cardiac adaptations resulting from routine vigorous endurance exercise often referred to as “athlete’s heart” include expansion of all heart chambers, and a tendency to lower systolic function measurements.

Endurance athletes exhibiting an abnormal ejection fraction (EF) show what the authors call a clinically challenging overlap between the athlete’s heart and dilated cardiomyopathy (DCM). Also, intense endurance exercise is associated with an increased prevalence of fibrosis and both atrial and ventricular arrhythmias, some of which may precede sudden cardiac death, the team continued.

We have long known that elite athletes have very different hearts from the general population. Exercise promotes profound changes in the heart, la Gerche said. The heart is big in all elite athletes but there is still great variation from big to big. The long-term significance of the most severe changes is still uncertain.

For their newly reported study, the team wanted to examine the prevalence, genetic associations, and consequences of reduced left and/or right ventricular EF in healthy young elite athletes. 281 athletes recruited from elite training programs underwent cardiac phenotyping and genetic analysis, and were followed for 4.4 years. Athletes with reduced left ventricular EF (LVEF), or reduced right ventricular EF (RVEF), as determined by MRI imaging, were compared with athletes with normal EF. Genetic testing was performed to assess a valid polygenic risk marker for left ventricular end-systolic volume (LVESVi-PRS), previously associated with DCM.

The results found that one in six athletes (15.7%) had heart measurements that fell into a range commonly associated with heart disease including an enlarged heart, an irregular fast heartbeat, and changes in the hearts left ventricular chamber which is responsible for pumping blood full of oxygen. outside the body. However, the reduction in heart function was only observed when individuals were at rest. When exercising, the heart works at a level known as super normal, in fact their hearts are able to greatly increase the pumping action as needed to increase cardiac output. The results from the genetic screening to examine the genes related to the development of DCM found that those elite athletes with the highest genetic load were 11 times more likely to have reduced measures of heart function.

Outlining the clinical significance of their findings, the authors state, The finding of a reduced ejection fraction in the clinical evaluation of an elite athlete may be considered part of the athletic phenotypic spectrum rather than a cardiac marker. disease Asymptomatic athletes with reduced ejection fraction should be allowed to continue competitive sports but continued follow-up. The risk of future development of DCM in athletes with high LVESVi-PRS is currently unknown and future follow-up is required.

First author professor Guido Claessen, MD, PhD, who is affiliated with Jessa Hospital, University of Hasselt and KU Leuven in Belgium, said that the findings primarily argue for close follow- up in the cardiological of elite athletes and that genetic screening in the future will be part of the preventive examinations received by top athletes. The significance of these extreme changes in the long term needs to be further investigated, Claessen said. It is important that we continue to monitor these athletes for a long time to determine future health effects that may prove positive or negative. Researchers are currently recruiting more than 400 elite endurance athletes, including winners of the world’s biggest cycling race, to participate in the Pro@Heart study.

Professor Diane Fatkin, MD, of the Victor Chang Cardiac Research Institute, who conducted the genetic analysis of the athletes with associate professor Eleni Giannoulatou, PhD, said the study is the first in the world to look at the role of genetics. in the susceptibility of DCM. of athletes. The heart phenomenon in athletes has been known for a long time, but we are the first team to investigate the role of an athlete’s genetic makeup on their heart function and structure, Fatkin said. What we found was that there were much more profound changes than thought and that a high number of these athletes changed the function of the heart. It is very important that we do not think that these athletes have heart disease because they can still perform at a very high level. But we don’t know what the long-term effect is and if it means that these athletes will continue to develop cardiomyopathy.

Co-author professor Hein Heidbuchel, MD, PhD, of the Antwerp University Hospital (UZA) suggests that it is now important to continue following the same group of athletes for the next 25 years to see if they really have heart problems. Regular exercise is associated with clear health benefits. But there may be a small group with a genetic predisposition that is good for developing an elite sports heart at a young age, but can be dangerous in the long term if they continue to exercise for too long that level. The main goal of our research is to make sports practice safe for all participants. A better understanding of the interplay between genetic traits and intensive exercise is an important step toward this goal.

In their paper, the team noted, Finding a reduction in ejection fraction in the clinical evaluation of an elite athlete may be considered part of the athletic phenotypic spectrum rather than a marker of cardiac disease, and concluded, Genetic and imaging markers may be helpful. to recognize perseverance. athletes for whom assessment of long-term clinical outcomes may be appropriate.


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