Characterization of cardiac involvement in children with LMNA-related muscular dystrophy
Por:
César-Díaz S, Campuzano O, Cruzalegui JC, Fiol JV, Moll I, Martínez-Barrios E, Zschaeck-Luzardo I, Natera-de Benito D, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada-Terradellas J, Nascimento-Osorio A and Sarquella-Brugada G
Publicada:
10 mar 2023
Ahead of Print:
10 mar 2023
Resumen:
Introduction: LMNA-related muscular dystrophy is a rare entity that produce "laminopathies" such as Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD). Heart failure, malignant arrhythmias, and sudden death may occur. No consensus exists on cardiovascular management in pediatric laminopathies. The aim was to perform an exhaustive cardiologic follow-up in pediatric patients diagnosed with LMNA-related muscular dystrophy.Methods: Baseline cardiac work-up consisted of clinical assessment, transthoracic Doppler echocardiography, 12-lead electrocardiogram, electrophysiological study, and implantation of a long-term implantable cardiac loop recorder (ILR).Results: We enrolled twenty-eight pediatric patients diagnosed with EDMD (13 patients), L-CMD (11 patients), LGMD1B (2 patients), and LMNA-related mild weakness (2 patients). Follow-up showed dilated cardiomyopathy (DCM) in six patients and malignant arrhythmias in five (four concomitant with DCM) detected by the ILR that required implantable cardioverter defibrillator (ICD) implantation. Malignant arrhythmias were detected in 20% of our cohort and early-onset EDMD showed worse cardiac prognosis.Discussion: Patients diagnosed with early-onset EDMD are at higher risk of DCM, while potentially life-threatening arrhythmias without DCM appear earlier in L-CMD patients. Early onset neurologic symptoms could be related with worse cardiac prognosis. Specific clinical guidelines for children are needed to prevent sudden death.
Filiaciones:
César-Díaz S:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, Netherlands
Campuzano O:
Medical Science Department, School of Medicine, Universitat de Girona, Girona, Spain
Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain
Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain
Cruzalegui JC:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, Netherlands
Fiol JV:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, Netherlands
Moll I:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, Netherlands
Martínez-Barrios E:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, Netherlands
Zschaeck-Luzardo I:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, Netherlands
Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
Investigación Aplicada en Enfermedades Neuromusculares, Neurociències, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain
Natera-de Benito D:
Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
Investigación Aplicada en Enfermedades Neuromusculares, Neurociències, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain
Ortez-Gonzalez CI:
Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
Investigación Aplicada en Enfermedades Neuromusculares, Neurociències, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain
Carrera-García L:
Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
Investigación Aplicada en Enfermedades Neuromusculares, Neurociències, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain
Exposito-Escudero JM:
Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
Investigación Aplicada en Enfermedades Neuromusculares, Neurociències, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain
Berrueco R:
Servicio de Hematología Pediátrica, Hospital Sant Joan de Déu Barcelona, Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu de Barcelona (IRP-HSJD), Universitat de Barcelona, Barcelona, Spain
Bautista-Rodriguez C:
Paediatric Cardiology Services, Royal Brompton Hospital, Guy's and St Thomas NHS Foundation Trust, London, United Kingdom
National Heart and Lung Institute, Imperial College London, London, United Kingdom
Dabaj I:
Neuromuscular Unit, Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches, France
Gómez García-de-la-Banda M:
Neuromuscular Unit, Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches, France
Quijano-Roy S:
Neuromuscular Unit, Pediatric Neurology and ICU Department, Raymond Poincaré Hospital (UVSQ), AP-HP Université Paris-Saclay, Garches, France
Brugada-Terradellas J:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, Netherlands
Centro de Investigación Biomédica en Red, Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain
Arrhythmia Section, Cardiology Service, Hospital Clínic, Barcelona, Spain
Nascimento-Osorio A:
Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain
Investigación Aplicada en Enfermedades Neuromusculares, Neurociències, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Spain
Instituto Nacional de Investigación Biomédica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España
Sarquella-Brugada G:
Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain
Arrítmies Pediàtriques, Cardiologia Genètica i Mort sobtada, Malalties Cardiovasculars en el Desenvolupament, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, Netherlands
Green Submitted, gold
|