Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
OBJECTIVE
Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder associated with cardiac involvement. We investigated the spectrum and relevance of the cardiac manifestations of EDMD, focusing on bradyarrhythmias and tachyarrhythmias (including atrial fibrillation/flutter), embolic stroke, and heart failure.


RESULTS
Eighteen patients (age 42.8+/-19.6 years) with genetically confirmed X-linked (n=10, including 3 carriers) or autosomal dominant (n=8) EDMD were followed for a period ranging from 1 to 30 years in a research center for neuromuscular diseases and in a university cardiological department. Pacemakers were required by 10 of 18 (56%) patients for bradyarrhythmia, and related complications occurred in 3 of 10 (30%) cases. Atrial fibrillation/flutter developed in 11 of 18 (61%) patients, with atrial standstill subsequently occurring in 5 of 11 (45%) cases and embolic stroke (most often disabling) in 4 of 11 (36%). Heart failure requiring transplantation occurred in 1 of 18 (6%) patients, and asymptomatic left ventricular dysfunction in a further 3 (17%). No relationship was evident between neuromuscular impairment and cardiac involvement.


CONCLUSIONS
Both X-linked and autosomal dominant EDMD patients risk not only bradyarrhythmia (requiring pacemaker implant) but also atrial fibrillation/flutter, which often anticipates atrial standstill and can cause disabling embolic stroke at a relatively young age. Antithromboembolic prophylaxis has to be recommended in EDMD patients with atrial fibrillation/flutter or atrial standstill. With careful monitoring, survival after pacemaker implant may be long. Heart failure, which seems to occur only in a minority of patients, may be severe.
Boriani
Giuseppe
G
Institute of Cardiology, Policlinico S. Orsola-Malpighi, University of Bologna, Italy. cardio1@almadns.unibo.it
Gallina
Margherita
M
Merlini
Luciano
L
Bonne
Gisèle
G
Toniolo
Daniela
D
Amati
Silvia
S
Biffi
Mauro
M
Martignani
Cristian
C
Frabetti
Lorenzo
L
Bonvicini
Marco
M
Rapezzi
Claudio
C
Branzi
Angelo
A
D000328:Adult; D000368:Aged; D001281:Atrial Fibrillation / Q000175:diagnosis / Q000453:epidemiology; D001282:Atrial Flutter / Q000175:diagnosis / Q000453:epidemiology; D001919:Bradycardia / Q000175:diagnosis / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D004562:Electrocardiography; D005260:Female; D005500:Follow-Up Studies; D006331:Heart Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000628:therapy; D006333:Heart Failure / Q000175:diagnosis / Q000453:epidemiology; D006801:Humans; D007223:Infant; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D010138:Pacemaker, Artificial / Q000009:adverse effects; D010375:Pedigree; D020521:Stroke / Q000175:diagnosis* / Q000453:epidemiology; D013923:Thromboembolism / Q000150:complications / Q000453:epidemiology; D014463:Ultrasonography; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000453:epidemiology