TY - JOUR
T1 - Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy
AU - van Lint, Freyja H. M.
AU - Hassanzada, Fahima
AU - Verstraelen, Tom E.
AU - Wang, Weijia
AU - Bosman, Laurens P.
AU - van der Zwaag, Paul A.
AU - Oomen, Toon
AU - Calkins, Hugh
AU - Murray, Brittney
AU - Tichnell, Crystal
AU - Beuren, Thais M. A.
AU - Asselbergs, Folkert W.
AU - Houweling, Arjan
AU - van den Berg, Maarten P.
AU - Wilde, Arthur A. M.
AU - James, Cynthia A.
AU - van Tintelen, J. Peter
N1 - Funding Information: This work was supported by the Netherlands Cardiovascular Research Initiative, an initiative supported by the Dutch Heart Foundation (CardioVasculair Onderzoek Nederland (CVON) projects: PREDICT2 2018-30, eDETECT 2015-12, DOSIS 2014-40, DOUBLE-DOSE 2020B005). Additional financial support was received from CURE-PLaN, a network funded by the Leducq Foundation, and the Dutch PLN Patient Foundation. Support was also provided by the Netherlands Organisation for Scientific Research (NWO)—travel grant 040.11.586 to C. A. James. Funding Information: C.A. James receives salary support form an investigator-initiated research grant from Boston Scientific Corp. and serves as a consultant for Pfizer Inc. and StrideBio, Inc. F.H. M. van Lint, F. Hassanzada,T.E. Verstraelen, W. Wang, L.P. Bosman, P.A. van der Zwaag, T. Oomen, H. Calkins, B. Murray, C. Tichnell, T.M.A. Beuren, F.W. Asselbergs, A. Houweling, M.P. van den Berg, A.A.M. Wilde and J. P. van Tintelen declare that they have no competing interests. Publisher Copyright: © 2023, The Author(s).
PY - 2023/8/1
Y1 - 2023/8/1
N2 - Background: Endurance and frequent exercise are associated with earlier onset of arrhythmogenic right ventricular cardiomyopathy (ARVC) and ventricular arrhythmias (VA) in desmosomal gene variant carriers. Individuals with the pathogenic c.40_42del; p.(Arg14del) variant in the PLN gene are frequently diagnosed with ARVC or dilated cardiomyopathy (DCM). The aim of this study was to evaluate the effect of exercise in PLN p.(Arg14del) carriers. Methods: In total, 207 adult PLN p.(Arg14del) carriers (39.1% male; mean age 53 ± 15 years) were interviewed on their regular physical activity since the age of 10 years. The association of exercise with diagnosis of ARVC, DCM, sustained VA and hospitalisation for heart failure (HF) was studied. Results: Individuals participated in regular physical activities with a median of 1661 metabolic equivalent of task (MET) hours per year (31.9 MET-hours per week) until clinical presentation. The 50% most and least active individuals had a similar frequency of sustained VA (18.3% vs 18.4%; p = 0.974) and hospitalisation for HF (9.6% vs 8.7%; p = 0.827). There was no relationship between exercise and survival free from (incident) sustained VA (p = 0.65), hospitalisation for HF (p = 0.81), diagnosis of ARVC (p = 0.67) or DCM (p = 0.39) during follow-up. In multivariate analyses, exercise was not associated with sustained VA or HF hospitalisation during follow-up in this relatively not-active cohort. Conclusion: There was no association between the amount of exercise and the susceptibility to develop ARVC, DCM, VA or HF in PLN p.(Arg14del) carriers. This suggested unaffected PLN p.(Arg14del) carriers can safely perform mild-moderate exercise, in contrast to desmosomal variant carriers and ARVC patients.
AB - Background: Endurance and frequent exercise are associated with earlier onset of arrhythmogenic right ventricular cardiomyopathy (ARVC) and ventricular arrhythmias (VA) in desmosomal gene variant carriers. Individuals with the pathogenic c.40_42del; p.(Arg14del) variant in the PLN gene are frequently diagnosed with ARVC or dilated cardiomyopathy (DCM). The aim of this study was to evaluate the effect of exercise in PLN p.(Arg14del) carriers. Methods: In total, 207 adult PLN p.(Arg14del) carriers (39.1% male; mean age 53 ± 15 years) were interviewed on their regular physical activity since the age of 10 years. The association of exercise with diagnosis of ARVC, DCM, sustained VA and hospitalisation for heart failure (HF) was studied. Results: Individuals participated in regular physical activities with a median of 1661 metabolic equivalent of task (MET) hours per year (31.9 MET-hours per week) until clinical presentation. The 50% most and least active individuals had a similar frequency of sustained VA (18.3% vs 18.4%; p = 0.974) and hospitalisation for HF (9.6% vs 8.7%; p = 0.827). There was no relationship between exercise and survival free from (incident) sustained VA (p = 0.65), hospitalisation for HF (p = 0.81), diagnosis of ARVC (p = 0.67) or DCM (p = 0.39) during follow-up. In multivariate analyses, exercise was not associated with sustained VA or HF hospitalisation during follow-up in this relatively not-active cohort. Conclusion: There was no association between the amount of exercise and the susceptibility to develop ARVC, DCM, VA or HF in PLN p.(Arg14del) carriers. This suggested unaffected PLN p.(Arg14del) carriers can safely perform mild-moderate exercise, in contrast to desmosomal variant carriers and ARVC patients.
KW - Arrhythmogenic right ventricular cardiomyopathy
KW - Dilated cardiomyopathy
KW - Exercise
KW - Genetics
KW - Penetrance
UR - http://www.scopus.com/inward/record.url?scp=85165421253&partnerID=8YFLogxK
U2 - https://doi.org/10.1007/s12471-023-01800-4
DO - https://doi.org/10.1007/s12471-023-01800-4
M3 - Article
C2 - 37474840
SN - 1568-5888
VL - 31
SP - 291
EP - 299
JO - Netherlands heart journal
JF - Netherlands heart journal
IS - 7-8
ER -