Cardiac and neuromuscular features of patients with LMNA-related cardiomyopathy: Annals of Internal Medicine

G Peretto, C Di Resta, J Perversi, C Forleo, L Maggi, L Politano, A Barison, SC Previtali, N Carboni, F Brun, E Pegoraro, A D'Amico, C Rodolico, F Magri, RC Manzi, A Palladino, F Isola, L Gigli, TE Mongini, C SempliciniC Calore, G Ricci, GP Comi, L Ruggiero, E Bertini, P Bonomo, G Nigro, N Resta, M Emdin, S Favale, G Siciliano, L Santoro, G Sinagra, G Limongelli, A Ambrosi, M Ferrari, PG Golzio, P Della Bella, S Benedetti, S Sala, on behalf of the Italian Network for Laminopathies (NIL)

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Mutations in the LMNA (lamin A/C) gene have been associated with neuromuscular and cardiac manifestations, but the clinical implications of these signs are not well understood. Objective: To learn more about the natural history of LMNArelated disease. Design: Observational study. Setting: 13 clinical centers in Italy from 2000 through 2018. Patients: 164 carriers of an LMNA mutation. Measurements: Detailed cardiologic and neurologic evaluation at study enrollment and for a median of 10 years of follow-up. Results: The median age at enrollment was 38 years, and 51% of participants were female. Neuromuscular manifestations preceded cardiac signs by a median of 11 years, but by the end of follow-up, 90% of the patients had electrical heart disease followed by structural heart disease. Overall, 10 patients (6%) died, 14 (9%) received a heart transplant, and 32 (20%) had malignant ventricular arrhythmias. Fifteen patients had gait loss, and 6 had respiratory failure. Atrial fibrillation and second- and thirddegree atrioventricular block were observed, respectively, in 56% and 51% of patients with combined cardiac and neuromuscular manifestations and 37% and 33% of those with heart disease only. Limitations: Some of the data were collected retrospectively. Neuromuscular manifestations were more frequent in this analysis than in previous studies. Conclusion: Many patients with an LMNA mutation have neurologic symptoms by their 30s and develop progressive cardiac manifestations during the next decade. A substantial proportion of these patients will have life-threatening neurologic or cardiologic conditions. © 2019 American College of Physicians. All rights reserved.
Original languageEnglish
Pages (from-to)458-463
Number of pages6
JournalAnnals of Internal Medicine
Volume171
Issue number7
DOIs
Publication statusPublished - 2019

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