Reduced Ejection Fraction in Elite Endurance Athletes: Clinical and Genetic Overlap With Dilated Cardiomyopathy

Claessen, Guido and De Bosscher, Ruben and Janssens, Kristel and Young, Paul and Dausin, Christophe and Claeys, Mathias and Claus, Piet and Goetschalckx, Kaatje and Bogaert, Jan and Mitchell, Amy M. and Flannery, Michael D. and Elliott, Adrian D. and Yu, Chenglong and Ghekiere, Olivier and Robyns, Tomas and Van De Heyning, Caroline M. and Sanders, Prashanthan and Kalman, Jonathan M. and Ohanian, Monique and Soka, Magdalena and Rath, Emma and Giannoulatou, Eleni and Johnson, Renee and Lacaze, Paul and Herbots, Lieven and Willems, Rik and Fatkin, Diane and Heidbuchel, Hein and La Gerche, André and Van Soest, Sofie and Bekhuis, Youri and Pauwels, Rik and De Paepe, Jarne and Hespel, Peter and Dymarkowski, Steven and Dresselaers, Tom and Miljoen, Hielko and Favere, Kasper and Paelinck, Bernard and Vermeulen, Dorien and Witvrouwen, Isabel and Hansen, Dominique and Op’t Eijnde, Bert and Thijs, Daisy and Vanvoorden, Peter and Lefebvre, Kristof and D’Ambrosio, Paolo and Rowe, Stephanie and Paratz, Elizabeth and Brosnan, Maria J. and Prior, David L. (2024) Reduced Ejection Fraction in Elite Endurance Athletes: Clinical and Genetic Overlap With Dilated Cardiomyopathy. Circulation, 149 (18). pp.1405-1415. ISSN 0009-7322

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Abstract

BACKGROUND: Exercise-induced cardiac remodeling can be profound, resulting in clinical overlap with dilated cardiomyopathy, yet the significance of reduced ejection fraction (EF) in athletes is unclear. The aim is to assess the prevalence, clinical consequences, and genetic predisposition of reduced EF in athletes. METHODS: Young endurance athletes were recruited from elite training programs and underwent comprehensive cardiac phenotyping and genetic testing. Those with reduced EF using cardiac magnetic resonance imaging (defined as left ventricular EF <50%, or right ventricular EF <45%, or both) were compared with athletes with normal EF. A validated polygenic risk score for indexed left ventricular end-systolic volume (LVESVi-PRS), previously associated with dilated cardiomyopathy, was assessed. Clinical events were recorded over a mean of 4.4 years. RESULTS: Of the 281 elite endurance athletes (22+/-8 years, 79.7% male) undergoing comprehensive assessment, 44 of 281 (15.7%) had reduced left ventricular EF (N=12; 4.3%), right ventricular EF (N=14; 5.0%), or both (N=18; 6.4%). Reduced EF was associated with a higher burden of ventricular premature beats (13.6% versus 3.8% with >100 ventricular premature beats/24 h; P=0.008) and lower left ventricular global longitudinal strain (-17%+/-2% versus -19%+/-2%; P<0.001). Athletes with reduced EF had a higher mean LVESVi-PRS (0.57+/-0.13 versus 0.51+/-0.14; P=0.009) with athletes in the top decile of LVESVi-PRS having an 11-fold increase in the likelihood of reduced EF compared with those in the bottom decile (P=0.034). Male sex and higher LVESVi-PRS were the only significant predictors of reduced EF in a multivariate analysis that included age and fitness. During follow-up, no athletes developed symptomatic heart failure or arrhythmias. Two athletes died, 1 from trauma and 1 from sudden cardiac death, the latter having a reduced right ventricular EF and a LVESVi-PRS >95%. CONCLUSIONS: Reduced EF occurs in approximately 1 in 6 elite endurance athletes and is related to genetic predisposition in addition to exercise training. Genetic and imaging markers may help identify endurance athletes in whom scrutiny about long-term clinical outcomes may be appropriate. REGISTRATION: URL: https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=374976&isReview=true; Unique identifier: ACTRN12618000716268.

Item Type: Article
Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 18 Dec 2024 00:22
Last Modified: 18 Dec 2024 00:22
URI: https://eprints.victorchang.edu.au/id/eprint/1545

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