Congenital LMNA-related muscular dystrophy in paediatrics: cardiac management in monozygotic twins

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dc.contributor.authorMartínez Olorón, Patricia
dc.contributor.authorAlegría, Iosune
dc.contributor.authorCesar, Sergi
dc.contributor.authorOlmo, Bernat del
dc.contributor.authorMartínez-Barrios, Estefanía
dc.contributor.authorCarrera-García, Laura
dc.contributor.authorNatera-de Benito, Daniel
dc.contributor.authorNascimento, Andrés
dc.contributor.authorCampuzano, Oscar
dc.contributor.authorSarquella-Brugada, Georgia
dc.contributor.departmentCiencias de la Saludes_ES
dc.contributor.departmentOsasun Zientziakeu
dc.date.accessioned2024-10-23T15:01:41Z
dc.date.available2024-10-23T15:01:41Z
dc.date.issued2024-05-27
dc.date.updated2024-10-23T14:25:37Z
dc.description.abstractPathogenic variants in LMNA have been associated with a wide spectrum of muscular conditions: the laminopathies. LMNA-related congenital muscular dystrophy is a laminopathy characterised by the early onset of symptoms and often leads to a fatal outcome at young ages. Children face a heightened risk of malignant arrhythmias. No established paediatric protocols for managing this condition are available. We review published cases and provide insights into disease progression in two twin sisters with LMNA-related muscular dystrophy. Our objective is to propose a cardiac surveillance and management plan tailored specifically for paediatric patients. We present a family of five members, including two twin sisters with LMNA-related muscular dystrophy. A comprehensive neuromuscular and cardiac work-up was performed in all family members. Genetic analysis using massive sequencing technology was performed in both twins. Clinical assessment showed that only the twins showed diagnoses of LMNA-related muscular dystrophy. Follow-up showed an early onset of symptoms and life-threatening arrhythmias, with differing disease progressions despite both twins passing away. Genetic analysis identified a de novo rare missense deleterious variant in the LMNA gene. Other additional rare variants were identified in genes associated with myasthenic syndrome. Early-onset neuromuscular symptoms could be related to a prognosis of worse life-threatening arrhythmias in LMNA related muscular dystrophy. Being a carrier of other rare variants may be a modifying factor in the progression of the phenotype, although further studies are needed. There is a pressing need for specific cardiac recommendations tailored to the paediatric population to mitigate the risk of malignant arrhythmias.en
dc.description.sponsorshipThis study would not have been possible without the support of grants for research projects of Instituto de Salud Carlos III, Fondo Investigación Sanitaria-FIS-(PI21/00094) and 'Fundación Andrés Marcio-Niños contra la Laminopatía'. CIBERCV and CIBERER are initiatives of the ISCIII (Carlos III Health Institute), Ministry of Economy and Competitiveness of Spain. IDIBGI and Fundació Sant Joan de Dèu are 'CERCA Programme/Generalitat de Catalunya'.
dc.format.mimetypeapplication/pdfen
dc.identifier.citationMartínez Olorón, P., Alegría, I., Cesar, S., Del Olmo, B., Martínez-Barrios, E., Carrera-García, L., Natera-de Benito, D., Nascimento, A., Campuzano, O., Sarquella-Brugada, G. (2024) Congenital LMNA-related muscular dystrophy in paediatrics: Cardiac management in monozygotic twins. International Journal of Molecular Sciences, 25(11), 1-10. https://doi.org/10.3390/ijms25115836.
dc.identifier.doi10.3390/ijms25115836
dc.identifier.issn1661-6596
dc.identifier.urihttps://academica-e.unavarra.es/handle/2454/52364
dc.language.isoeng
dc.publisherMDPI
dc.relation.ispartofInternational Journal of Molecular Sciences 2024, 25(11), 5836
dc.relation.projectIDinfo:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020 (ISCIII)/PI21%2F00094/ES/
dc.relation.publisherversionhttps://doi.org/10.3390/ijms25115836
dc.rights© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license.
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectArrhythmiasen
dc.subjectGenetic diagnosticen
dc.subjectLaminopathiesen
dc.subjectMuscular dystrophyen
dc.subjectSudden cardiac deathen
dc.titleCongenital LMNA-related muscular dystrophy in paediatrics: cardiac management in monozygotic twinsen
dc.typeinfo:eu-repo/semantics/article
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dspace.entity.typePublication
relation.isAuthorOfPublicationbc33f11e-58e9-49af-8c0d-f03ed7b62274
relation.isAuthorOfPublication.latestForDiscoverybc33f11e-58e9-49af-8c0d-f03ed7b62274

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