Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins
dc.contributor.author
dc.date.accessioned
2024-06-20T12:05:13Z
dc.date.available
2024-06-20T12:05:13Z
dc.date.issued
2024-06-01
dc.identifier.issn
1661-6596
dc.identifier.uri
dc.description.abstract
Pathogenic 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
dc.description.sponsorship
This 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.mimetype
application/pdf
dc.language.iso
eng
dc.publisher
MDPI (Multidisciplinary Digital Publishing Institute)
dc.relation.isformatof
Reproducció digital del document publicat a: https://doi.org/10.3390/ijms25115836
dc.relation.ispartof
International Journal of Molecular Sciences, 2024, vol. 25, núm. 11, p. 5836
dc.relation.ispartofseries
Articles publicats (D-CM)
dc.rights
Attribution 4.0 International
dc.rights.uri
dc.subject
dc.title
Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins
dc.type
info:eu-repo/semantics/article
dc.rights.accessRights
info:eu-repo/semantics/openAccess
dc.type.version
info:eu-repo/semantics/publishedVersion
dc.identifier.doi
dc.type.peerreviewed
peer-reviewed
dc.identifier.eissn
1422-0067
dc.identifier.PMID
38892025
dc.identifier.PMCID
11171958