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Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy

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 frequentl...

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Autores principales: van Lint, Freyja H. M., Hassanzada, Fahima, Verstraelen, Tom E., Wang, Weijia, Bosman, Laurens P., van der Zwaag, Paul A., Oomen, Toon, Calkins, Hugh, Murray, Brittney, Tichnell, Crystal, Beuren, Thais M. A., Asselbergs, Folkert W., Houweling, Arjan, van den Berg, Maarten P., Wilde, Arthur A. M., James, Cynthia A., van Tintelen, J. Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bohn Stafleu van Loghum 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400740/
https://www.ncbi.nlm.nih.gov/pubmed/37474840
http://dx.doi.org/10.1007/s12471-023-01800-4
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author van Lint, Freyja H. M.
Hassanzada, Fahima
Verstraelen, Tom E.
Wang, Weijia
Bosman, Laurens P.
van der Zwaag, Paul A.
Oomen, Toon
Calkins, Hugh
Murray, Brittney
Tichnell, Crystal
Beuren, Thais M. A.
Asselbergs, Folkert W.
Houweling, Arjan
van den Berg, Maarten P.
Wilde, Arthur A. M.
James, Cynthia A.
van Tintelen, J. Peter
author_facet van Lint, Freyja H. M.
Hassanzada, Fahima
Verstraelen, Tom E.
Wang, Weijia
Bosman, Laurens P.
van der Zwaag, Paul A.
Oomen, Toon
Calkins, Hugh
Murray, Brittney
Tichnell, Crystal
Beuren, Thais M. A.
Asselbergs, Folkert W.
Houweling, Arjan
van den Berg, Maarten P.
Wilde, Arthur A. M.
James, Cynthia A.
van Tintelen, J. Peter
author_sort van Lint, Freyja H. M.
collection PubMed
description 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. SUPPLEMENTARY INFORMATION: The online version of this article (10.1007/s12471-023-01800-4) contains supplementary material, which is available to authorized users.
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spelling pubmed-104007402023-08-05 Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy van Lint, Freyja H. M. Hassanzada, Fahima Verstraelen, Tom E. Wang, Weijia Bosman, Laurens P. van der Zwaag, Paul A. Oomen, Toon Calkins, Hugh Murray, Brittney Tichnell, Crystal Beuren, Thais M. A. Asselbergs, Folkert W. Houweling, Arjan van den Berg, Maarten P. Wilde, Arthur A. M. James, Cynthia A. van Tintelen, J. Peter Neth Heart J Original Article 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. SUPPLEMENTARY INFORMATION: The online version of this article (10.1007/s12471-023-01800-4) contains supplementary material, which is available to authorized users. Bohn Stafleu van Loghum 2023-07-20 2023-08 /pmc/articles/PMC10400740/ /pubmed/37474840 http://dx.doi.org/10.1007/s12471-023-01800-4 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/ Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Article
van Lint, Freyja H. M.
Hassanzada, Fahima
Verstraelen, Tom E.
Wang, Weijia
Bosman, Laurens P.
van der Zwaag, Paul A.
Oomen, Toon
Calkins, Hugh
Murray, Brittney
Tichnell, Crystal
Beuren, Thais M. A.
Asselbergs, Folkert W.
Houweling, Arjan
van den Berg, Maarten P.
Wilde, Arthur A. M.
James, Cynthia A.
van Tintelen, J. Peter
Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy
title Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy
title_full Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy
title_fullStr Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy
title_full_unstemmed Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy
title_short Exercise does not influence development of phenotype in PLN p.(Arg14del) cardiomyopathy
title_sort exercise does not influence development of phenotype in pln p.(arg14del) cardiomyopathy
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400740/
https://www.ncbi.nlm.nih.gov/pubmed/37474840
http://dx.doi.org/10.1007/s12471-023-01800-4
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