Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations.
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.
Sanna
Tommaso
T
Institute of Cardiology, Catholic University of the Sacred Heart, Rome, Italy. tommaso.sanna@rm.unicatt.it
Dello Russo
Antonio
A
Toniolo
Daniela
D
Vytopil
Michal
M
Pelargonio
Gemma
G
De Martino
Giuseppe
G
Ricci
Enzo
E
Silvestri
Gabriella
G
Giglio
Vincenzo
V
Messano
Loredana
L
Zachara
Elisabetta
E
Bellocci
Fulvio
F
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
D034904:Lamin Type A; C440308:lamin C