title: Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Institute of Cardiology, Catholic University of the Sacred Heart, Rome, Italy. tommaso.sanna@rm.unicatt.it
authors.forename: Tommaso
authors.initials: T
authors.lastname: Sanna
authors.forename: Antonio
authors.initials: A
authors.lastname: Dello Russo
authors.forename: Daniela
authors.initials: D
authors.lastname: Toniolo
authors.forename: Michal
authors.initials: M
authors.lastname: Vytopil
authors.forename: Gemma
authors.initials: G
authors.lastname: Pelargonio
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Martino
authors.forename: Enzo
authors.initials: E
authors.lastname: Ricci
authors.forename: Gabriella
authors.initials: G
authors.lastname: Silvestri
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Giglio
authors.forename: Loredana
authors.initials: L
authors.lastname: Messano
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Zachara
authors.forename: Fulvio
authors.initials: F
authors.lastname: Bellocci
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001145:Arrhythmias, Cardiac / Q000209:etiology; D006328:Cardiac Catheterization; D002648:Child; D016757:Death, Sudden, Cardiac / Q000209:etiology; D004417:Dyspnea / Q000209:etiology; D004452:Echocardiography; D004562:Electrocardiography; D015716:Electrocardiography, Ambulatory; D005260:Female; D005500:Follow-Up Studies; D006331:Heart Diseases / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010138:Pacemaker, Artificial; D013575:Syncope / Q000209:etiology
chemical_list: D034904:Lamin Type A; C440308:lamin C