Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset

Orphanet Journal of Rare Diseases

Giuseppe Boriani¹  Alessandra Berardini²  Giovanni Vitale²  Maddalena Graziosi²  Massimiliano Lorenzini²  Claudio Rapezzi²  Ferdinando Pasquale²  Elena Biagini²  Raffaello Ditaranto²  Mauro Biffi²  Maria Letizia Bacchi Reggiani²  Matteo Ziacchi²  Luciano Potena²  Sofia Martin Suarez²  Giovanna Lattanzi³  Rita Rinaldi⁴ 

[1] Cardiology Division, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Policlinico di Modena;Cardiology Unit, Cardio-Thoracic-Vascular Department, Sant’Orsola-Malpighi Hospital, University of Bologna;Italian National Research Council (CNR), Institute of Molecular Genetics IGM Bologna;Neurology Unit, Sant’Orsola-Malpighi University Hospital;

关键词: Lamin;    Emerin;    Neuromuscular disorders;    Atrial fibrillation;    Bradyarrhythmias;    Ventricular tachycardias;   

DOI  :  10.1186/s13023-019-1245-8

来源: DOAJ

【 摘 要 】

Abstract Objective To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation. Methods We prospectively analyzed 40 consecutive patients with a diagnosis of laminopathy followed at a single centre between 1998 and 2017. Additionally, reports of clinical evaluations and tests prior to referral at our centre were retrospectively evaluated. Results Clinical onset was cardiac in 26 cases and neuromuscular in 14. Patients with neuromuscular presentation experienced first symptoms earlier in life (11 vs 39 years; p <  0.0001) and developed atrial fibrillation/flutter (AF) and required pacemaker implantation at a younger age (28 vs 41 years [p = 0.013] and 30 vs 44 years [p = 0.086] respectively), despite a similar overall prevalence of AF (57% vs 65%; p = 0.735) and atrio-ventricular (A-V) block (50% vs 65%; p = 0.500). Those with a neuromuscular presentation developed a cardiomyopathy less frequently (43% vs 73%; p = 0.089) and had a lower rate of sustained ventricular tachyarrhythmias (7% vs 23%; p = 0.387). In patients with neuromuscular onset rhythm disturbances occurred usually before evidence of cardiomyopathy. Despite these differences, the need for heart transplantation and median age at intervention were similar in the two groups (29% vs 23% [p = 0.717] and 43 vs 46 years [p = 0.593] respectively). Conclusions In patients with laminopathy, the type of disease onset was a marker for a different natural history. Specifically, patients with neuromuscular presentation had an earlier cardiac involvement, characterized by a linear and progressive evolution from rhythm disorders (AF and/or A-V block) to cardiomyopathy.

【 授权许可】

Unknown