Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study

[Introduction/Aims] There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype.

Detalhes bibliográficos
Autores: Moore, Ursula, Fernández-Torrón, Roberto, Jacobs, Marni, Gordish, Heather, Díaz-Manera, Jordi, James, Meredith K., Mayhew, Anna G., Harris, Elizabeth, Guglieri, Michela, Rufibach, Laura E., Feng, Jia, Blamire, Andrew M., Carlier, Pierre G., Spuler, Simone, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Lowes, Linda Pax, Mendell, Jerry R., Bushby, Kate, Bourke, John, Straub, Volker
Formato: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/304014
Acesso em linha:http://hdl.handle.net/10261/304014
https://api.elsevier.com/content/abstract/scopus_id/85128799841
Access Level:acceso abierto
Palavra-chave:Respiratory
Miyoshi myopathy
Cardiac
Dysferlin
Limb girdle muscular dystrophy R2
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spelling Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal studyMoore, UrsulaFernández-Torrón, RobertoJacobs, MarniGordish, HeatherDíaz-Manera, JordiJames, Meredith K.Mayhew, Anna G.Harris, ElizabethGuglieri, MichelaRufibach, Laura E.Feng, JiaBlamire, Andrew M.Carlier, Pierre G.Spuler, SimoneDay, John W.Jones, Kristi J.Bharucha-Goebel, Diana X.Salort-Campana, EmmanuellePestronk, AlanWalter, Maggie C.Paradas, CarmenStojkovic, TanyaMori-Yoshimura, MadokaBravver, ElenaPegoraro, ElenaLowes, Linda PaxMendell, Jerry R.Bushby, KateBourke, JohnStraub, VolkerRespiratoryMiyoshi myopathyCardiacDysferlinLimb girdle muscular dystrophy R2[Introduction/Aims] There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype.[Methods] As part of the Jain Foundation's International Clinical Outcome Study (COS) for dysferlinopathy, objective measures of respiratory and cardiac function were collected twice, with a 3-y interval between tests, in 188 genetically confirmed patients aged 11–86 y (53% female). Measures included forced vital capacity (FVC), electrocardiogram (ECG), and echocardiogram (echo).[Results] Mean FVC was 90% predicted at baseline, decreasing to 88% at year 3. FVC was less than 80% predicted in 44 patients (24%) at baseline and 48 patients (30%) by year 3, including ambulant participants. ECGs showed P-wave abnormalities indicative of delayed trans-atrial conduction in 58% of patients at baseline, representing a risk for developing atrial flutter or fibrillation. The prevalence of impaired left ventricular function or hypertrophy was comparable to that in the general population.[Discussion] These results demonstrate clinically significant respiratory impairment and abnormal atrial conduction in some patients with dysferlinopathy. Therefore, we recommend that annual or biannual follow-up should include FVC measurement, enquiry about arrhythmia symptoms and peripheral pulse palpation to assess cardiac rhythm. However, periodic specialist cardiac review is probably not warranted unless prompted by symptoms or abnormal pulse findings.Peer reviewedJohn Wiley & SonsConsejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202320232022info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/304014https://api.elsevier.com/content/abstract/scopus_id/85128799841reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)InglésThe underlying dataset has been published as supplementary material of the article in the publisher platform at DOI 10.1002/mus.27524https://doi.org/10.1002/mus.27524Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3040142026-05-22T06:33:51Z
dc.title.none.fl_str_mv Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
title Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
spellingShingle Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
Moore, Ursula
Respiratory
Miyoshi myopathy
Cardiac
Dysferlin
Limb girdle muscular dystrophy R2
title_short Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
title_full Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
title_fullStr Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
title_full_unstemmed Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
title_sort Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
dc.creator.none.fl_str_mv Moore, Ursula
Fernández-Torrón, Roberto
Jacobs, Marni
Gordish, Heather
Díaz-Manera, Jordi
James, Meredith K.
Mayhew, Anna G.
Harris, Elizabeth
Guglieri, Michela
Rufibach, Laura E.
Feng, Jia
Blamire, Andrew M.
Carlier, Pierre G.
Spuler, Simone
Day, John W.
Jones, Kristi J.
Bharucha-Goebel, Diana X.
Salort-Campana, Emmanuelle
Pestronk, Alan
Walter, Maggie C.
Paradas, Carmen
Stojkovic, Tanya
Mori-Yoshimura, Madoka
Bravver, Elena
Pegoraro, Elena
Lowes, Linda Pax
Mendell, Jerry R.
Bushby, Kate
Bourke, John
Straub, Volker
author Moore, Ursula
author_facet Moore, Ursula
Fernández-Torrón, Roberto
Jacobs, Marni
Gordish, Heather
Díaz-Manera, Jordi
James, Meredith K.
Mayhew, Anna G.
Harris, Elizabeth
Guglieri, Michela
Rufibach, Laura E.
Feng, Jia
Blamire, Andrew M.
Carlier, Pierre G.
Spuler, Simone
Day, John W.
Jones, Kristi J.
Bharucha-Goebel, Diana X.
Salort-Campana, Emmanuelle
Pestronk, Alan
Walter, Maggie C.
Paradas, Carmen
Stojkovic, Tanya
Mori-Yoshimura, Madoka
Bravver, Elena
Pegoraro, Elena
Lowes, Linda Pax
Mendell, Jerry R.
Bushby, Kate
Bourke, John
Straub, Volker
author_role author
author2 Fernández-Torrón, Roberto
Jacobs, Marni
Gordish, Heather
Díaz-Manera, Jordi
James, Meredith K.
Mayhew, Anna G.
Harris, Elizabeth
Guglieri, Michela
Rufibach, Laura E.
Feng, Jia
Blamire, Andrew M.
Carlier, Pierre G.
Spuler, Simone
Day, John W.
Jones, Kristi J.
Bharucha-Goebel, Diana X.
Salort-Campana, Emmanuelle
Pestronk, Alan
Walter, Maggie C.
Paradas, Carmen
Stojkovic, Tanya
Mori-Yoshimura, Madoka
Bravver, Elena
Pegoraro, Elena
Lowes, Linda Pax
Mendell, Jerry R.
Bushby, Kate
Bourke, John
Straub, Volker
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Respiratory
Miyoshi myopathy
Cardiac
Dysferlin
Limb girdle muscular dystrophy R2
topic Respiratory
Miyoshi myopathy
Cardiac
Dysferlin
Limb girdle muscular dystrophy R2
description [Introduction/Aims] There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype.
publishDate 2022
dc.date.none.fl_str_mv 2022
2023
2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/304014
https://api.elsevier.com/content/abstract/scopus_id/85128799841
url http://hdl.handle.net/10261/304014
https://api.elsevier.com/content/abstract/scopus_id/85128799841
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI 10.1002/mus.27524
https://doi.org/10.1002/mus.27524
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv John Wiley & Sons
publisher.none.fl_str_mv John Wiley & Sons
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,81155

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