Frontiers in Cell and Developmental Biology (Mar 2023)

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy

  • Sergi Cesar,
  • Sergi Cesar,
  • Sergi Cesar,
  • Oscar Campuzano,
  • Oscar Campuzano,
  • Oscar Campuzano,
  • Jose Cruzalegui,
  • Jose Cruzalegui,
  • Jose Cruzalegui,
  • Victori Fiol,
  • Victori Fiol,
  • Victori Fiol,
  • Isaac Moll,
  • Isaac Moll,
  • Isaac Moll,
  • Estefania Martínez-Barrios,
  • Estefania Martínez-Barrios,
  • Estefania Martínez-Barrios,
  • Irene Zschaeck,
  • Irene Zschaeck,
  • Irene Zschaeck,
  • Irene Zschaeck,
  • Irene Zschaeck,
  • Daniel Natera-de Benito,
  • Daniel Natera-de Benito,
  • Carlos Ortez,
  • Carlos Ortez,
  • Laura Carrera,
  • Laura Carrera,
  • Jessica Expósito,
  • Jessica Expósito,
  • Rubén Berrueco,
  • Carles Bautista-Rodriguez,
  • Carles Bautista-Rodriguez,
  • Ivana Dabaj,
  • Marta Gómez García-de-la-Banda,
  • Susana Quijano-Roy,
  • Josep Brugada,
  • Josep Brugada,
  • Josep Brugada,
  • Josep Brugada,
  • Josep Brugada,
  • Andrés Nascimento,
  • Andrés Nascimento,
  • Andrés Nascimento,
  • Georgia Sarquella-Brugada,
  • Georgia Sarquella-Brugada,
  • Georgia Sarquella-Brugada

DOI
https://doi.org/10.3389/fcell.2023.1142937
Journal volume & issue
Vol. 11

Abstract

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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.

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