{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,14]],"date-time":"2026-06-14T15:20:18Z","timestamp":1781450418555,"version":"3.54.1"},"reference-count":13,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T00:00:00Z","timestamp":1716768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto de Salud Carlos III, Fondo Investigaci\u00f3n","award":["Sanitaria-FIS-(PI21\/00094)"],"award-info":[{"award-number":["Sanitaria-FIS-(PI21\/00094)"]}]},{"name":"Fundaci\u00f3n Andr\u00e9s Marcio\u2013Ni\u00f1os contra la Laminopat\u00eda","award":["Sanitaria-FIS-(PI21\/00094)"],"award-info":[{"award-number":["Sanitaria-FIS-(PI21\/00094)"]}]},{"name":"ISCIII (Carlos III Health Institute), Ministry of Economy and Competitiveness of Spain","award":["Sanitaria-FIS-(PI21\/00094)"],"award-info":[{"award-number":["Sanitaria-FIS-(PI21\/00094)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/ijms25115836","type":"journal-article","created":{"date-parts":[[2024,5,28]],"date-time":"2024-05-28T03:48:49Z","timestamp":1716868129000},"page":"5836","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins"],"prefix":"10.3390","volume":"25","author":[{"given":"Patricia","family":"Mart\u00ednez Olor\u00f3n","sequence":"first","affiliation":[{"name":"Unidad de Cardiolog\u00eda Infantil, Hospital Universtario de Navarra, 31008 Pamplona, Spain"},{"name":"Departamento de Pediatr\u00eda, Facultad de Ciencias de la Salud, Universidad P\u00fablica de Navarra, 31006 Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iosune","family":"Alegr\u00eda","sequence":"additional","affiliation":[{"name":"Unidad de Cardiolog\u00eda Infantil, Hospital Universtario de Navarra, 31008 Pamplona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergi","family":"Cesar","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Arr\u00edtmies Pedi\u00e0triques, Cardiologia Gen\u00e8tica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernat","family":"del Olmo","sequence":"additional","affiliation":[{"name":"Institut d\u2019Investigaci\u00f3 Biom\u00e8diques de Girona (IDIBGI-CERCA), 17190 Salt, Spain"},{"name":"Centro Investigaci\u00f3n Biom\u00e9dica en Red-Cardiovascular (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Estefan\u00eda","family":"Mart\u00ednez-Barrios","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Arr\u00edtmies Pedi\u00e0triques, Cardiologia Gen\u00e8tica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4762-7591","authenticated-orcid":false,"given":"Laura","family":"Carrera-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u, 08950 Barcelona, Spain"},{"name":"Investigaci\u00f3n Aplicada en Enfermedades Neuromusculares Neuroci\u00e8ncies, Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7764-2085","authenticated-orcid":false,"given":"Daniel","family":"Natera-de Benito","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u, 08950 Barcelona, Spain"},{"name":"Investigaci\u00f3n Aplicada en Enfermedades Neuromusculares Neuroci\u00e8ncies, Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Instituto Nacional de Investigaci\u00f3n Biom\u00e9dica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9s","family":"Nascimento","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de D\u00e9u, 08950 Barcelona, Spain"},{"name":"Investigaci\u00f3n Aplicada en Enfermedades Neuromusculares Neuroci\u00e8ncies, Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Instituto Nacional de Investigaci\u00f3n Biom\u00e9dica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5298-5276","authenticated-orcid":false,"given":"Oscar","family":"Campuzano","sequence":"additional","affiliation":[{"name":"Institut d\u2019Investigaci\u00f3 Biom\u00e8diques de Girona (IDIBGI-CERCA), 17190 Salt, Spain"},{"name":"Centro Investigaci\u00f3n Biom\u00e9dica en Red-Cardiovascular (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Medical Science Department, School of Medicine, Universitat de Girona, 17003 Girona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6857-8904","authenticated-orcid":false,"given":"Georgia","family":"Sarquella-Brugada","sequence":"additional","affiliation":[{"name":"Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Arr\u00edtmies Pedi\u00e0triques, Cardiologia Gen\u00e8tica i Mort Sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"Institut d\u2019Investigaci\u00f3 Biom\u00e8diques de Girona (IDIBGI-CERCA), 17190 Salt, Spain"},{"name":"Pediatrics Department, School of Medicine, Universitat de Barcelona, 08007 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"122489","DOI":"10.1016\/j.lfs.2024.122489","article-title":"The structure and function of lamin A\/C: Special focus on cardiomyopathy and therapeutic interventions","volume":"341","author":"Tiwari","year":"2024","journal-title":"Life Sci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ana.21417","article-title":"De novo LMNA mutations cause a new form of congenital muscular dystrophy","volume":"64","author":"Mbieleu","year":"2008","journal-title":"Ann. 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