Dec 18, 2023
Study examines abnormal heart function among elite athletes

A recent study involving nearly 300 elite athletes found that one in six has cardiac measures that would normally suggest reduced heart function.

Further genetic analysis found that those same athletes also had an enrichment of genes associated with heart muscle disease.

heartThe results, reported by a research team in Australia and Belgium, indicate that a genetic predisposition may be “stressed” by exercise to cause significant heart changes. The international collaboration will continue to monitor the athletes over the long term to determine the consequences on their heart health.

The findings highlight the need for far closer monitoring of the heart health of elite athletes, suggests associate professor Andre la Gerche, Ph.D., who heads the HEART Laboratory that is jointly supported by St. Vincent’s Institute in Melbourne and the Victor Chang Cardiac Research Institute in Sydney.

A recent report from detailed the study that involved 281 elite athletes from Australia and Belgium. Below is an excerpt from the story.

La Gerche and colleagues reported on their findings in Circulation, in a paper titled, “Reduced Ejection Fraction in Elite Endurance Athletes—Clinical and Genetic Overlap with Dilated Cardiomyopathy.”

Athletes generally enjoy excellent health, the authors wrote, “… but a minority present with extreme changes in cardiac structure and function that invoke consideration of underlying cardiac pathology.” Cardiac adaptations resulting from habitual intense endurance exercise —often termed “the athlete’s heart”—include dilation of all the heart chambers, and a tendency to lower measures of systolic function.

Endurance athletes who exhibit abnormal ejection fraction (EF) present what the authors term “a clinically challenging overlap” between athlete’s heart and dilated cardiomyopathy (DCM). “Also, intense endurance exercise has been linked to an increased prevalence of fibrosis and both atrial and ventricular arrhythmias, some of which might predispose to sudden cardiac death,” the team continued.

“We have long known that elite athletes have very different hearts to the general population. Exercise promotes profound heart changes,” noted la Gerche. “The heart is large in all elite athletes but considerable variation is still ranging from large to enormous. The long-term significance of the most extreme changes is not yet certain.”

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For their newly reported study the team wanted to evaluate the prevalence, genetic associations, and consequences of reduced left and/or right ventricular EF in healthy young elite endurance athletes. The 281 athletes recruited from elite training programs underwent cardiac phenotyping and genetic analyses, and were followed over a mean of 4.4 years. Athletes with either reduced left ventricular EF (LVEF), or reduced right ventricular EF (RVEF), which was determined by MRI imaging, were compared with athletes that had a normal EF. Genetic testing was carried out to assess a validated polygenic risk score for left ventricular end-systolic volume (LVESVi-PRS), that has previously been associated with DCM.

The results found that one in six athletes (15.7%) had heart measures that fall in a range normally associated with heart disease—including an enlarged heart, irregular rapid heartbeat, and changes in the heart’s left ventricular chamber that is responsible for pumping blood full of oxygen out to the body. However, reduced heart function was only observed when the individuals were at rest. When exercising, the heart functioned at levels known as super normal, in effect their hearts were able to substantially increase the pumping action when needed to boost cardiac output. The results from genetic screening to assess genes associated with developing DCM found that those elite athletes with the highest genetic load were 11 times more likely to have a reduction in heart function measures.

To read the full study from, click here. 

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