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Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy
Freyja H M van Lint1,2,3, Fahima Hassanzada1, Tom E Verstraelen4,5
1Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
Summary
Exercise does not increase the risk of heart conditions like ARVC, DCM, or heart failure in individuals with the PLN p.(Arg14del) variant. These carriers can safely engage in mild to moderate physical activity.
Area of Science:
- Cardiology
- Genetics
- Exercise Science
Background:
- Exercise is linked to earlier onset of arrhythmogenic right ventricular cardiomyopathy (ARVC) and ventricular arrhythmias (VA) in desmosomal gene variant carriers.
- The PLN gene pathogenic c.40_42del; p.(Arg14del) variant is frequently associated with ARVC or dilated cardiomyopathy (DCM).
Purpose of the Study:
- To evaluate the impact of regular physical activity on the clinical outcomes of individuals carrying the PLN p.(Arg14del) variant.
Main Methods:
- Interviewed 207 adult PLN p.(Arg14del) carriers regarding their physical activity levels since age 10.
- Assessed the association between exercise and diagnoses of ARVC, DCM, sustained VA, and heart failure (HF) hospitalization.
Main Results:
- Participants engaged in regular physical activity (median 1661 MET hours/year).
- No significant difference in sustained VA or HF hospitalization rates was observed between the most and least active groups.
- Exercise was not associated with a higher risk of sustained VA, HF hospitalization, ARVC, or DCM during follow-up.
Conclusions:
- No association found between exercise levels and the risk of developing ARVC, DCM, VA, or HF in PLN p.(Arg14del) carriers.
- This suggests that unaffected PLN p.(Arg14del) carriers may safely participate in mild to moderate exercise.
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