Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations

Tommaso Sanna, Antonio Dello Russo, Daniela Toniolo, Michal Vytopil, Gemma Pelargonio, Giuseppe De Martino, Enzo Ricci, Gabriella Silvestri, Vincenzo Giglio, Loredana Messano, Elisabetta Zachara, Fulvio Bellocci

Research output: Contribution to journalArticle

Abstract

Aims: Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in patients selected on the basis of a phenotype characterized by dilated cardiomyopathy, atrioventricular conduction disturbances and sudden death. However, the features of -cardiac abnormalities in patients with an initial diagnosis of Emery-Dreifuss muscular dystrophy (EDMD) are poorly known. Aim of the present study was to investigate the spectrum of cardiac disease in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene. Methods and results: Ten consecutive patients with EDMD and a LMNA gene mutation were evaluated with structured medical interview, physical examination, ECG, echocardiogram and 24-h Holter monitoring. Electrophysiological testing and cardiac catheterization were performed if a class 1 or 2 American Heart Association guidelines indication was present. Cardiac disease was found in eight of 10 patients and consisted in the variable combination of supraventricular arrhythmias, disorders of atrioventricular conduction, ventricular arrhythmias, dilated cardiomyopathy, non-dilated cardiomyopathy, restrictive cardiomyopathy and sudden death despite pacemaker implant. Conclusions: Cardiac disease is common in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene and consists of arrhythmias, disorders of atrioventricular conduction, cardiomyopathies and sudden death despite pacemaker implant.

Original languageEnglish
Pages (from-to)2227-2236
Number of pages10
JournalEuropean Heart Journal
Volume24
Issue number24
DOIs
Publication statusPublished - Dec 2003

Keywords

  • Arrhythmia
  • Cardiac disease
  • Cardiomyopathy
  • Lamin A/C
  • Muscular dystrophy
  • Sudden death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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    Sanna, T., Dello Russo, A., Toniolo, D., Vytopil, M., Pelargonio, G., De Martino, G., Ricci, E., Silvestri, G., Giglio, V., Messano, L., Zachara, E., & Bellocci, F. (2003). Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. European Heart Journal, 24(24), 2227-2236. https://doi.org/10.1016/j.ehj.2003.09.020