Progression of cardiac disease in emery‐dreifuss muscular dystrophy

Abstract

Summary: Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked muscular dystrophy characterized by early contractures, progressive muscle weakness, and atrial arrhythmias. Recent reports suggest that there may be additional cardiac problems in affected males and that carrier temales may also show ECG abnormalities. We restudied two large families with EDMD in order to determine the extent o f these problems. We examined 10 affected males and interviewed 2 others. The 3 affected males less than 20 years old had no ECG changes. All affected men of 35 years or older had arrhythmias. One had more severe arrhythmias when asleep, indicating the usefiilness of continuous 24-h ECG monitoring in the evaluation of males affected with EDMD. Two required pacemakers, 4 had already had a pacemaker placed, and 4 other affected men with pacemakers had died prior to this study. One affected man with a pacemaker developed ventricular bigeminy and another developed congestive hean failure. Thus of 10 affected males with pacemakers, 6 had additional cardiac symptoms and 4 have died. Males with EDMD may survive longer with a ventricular pacemaker, but this may increase the likelihood that they will develop cardiomyopathy and ventricular arrhythmias. Of34 carrier females examined, 6 had arrhythmias typical of EDMD. Two required a pacemaker. The risk of arrhythmia increased with age. Results from one family should be extrapolated to another with caution, as there appears to be significant interfamilial variation. We suggest careful cardiologic follow-up of EDMD patients and regular cardiac evaluations for older carrier females.

Emery-Dreifuss muscular dystrophy

“…Cardiac disease occurs in virtually all cases of EDMD and, in most cases, symptoms begin at the end of the second decade with no direct relationship to the severity of the skeletal muscle involvement [1, [18][19][20]. The initial presentation is usually atrioventricular conduction block that can be detected by electrocardiography [1, 19,20].…”

Die Hauptmann-Thannhauser-Muskeldystrophie und Differenzialdiagnosen von Myopathien mit Kontrakturen

“…Den kardialen Symp- [23]. Von 34 infrage kommenden Konduktorinnen zweier Familien waren bei 6 Überlei-tungsstörungen nachweisbar, 2 waren herzschrittmacherpflichtig [2].…”

Muscular dystrophies and the heart: The emerging role of cardiovascular magnetic resonance imaging

“…Female carriers of an emerin mutation have no muscular symptoms, although some may be at risk for cardiac arrhythmias and sudden death (52)(53)(54)(55); however, studies investigating cardiac involvement in EDMD1 carriers are not available.…”

“…Sudden death is common and highly unpredictable (48,49); therefore, pacemakers are often needed at 30 years of age (range 14 to 44 years) (50)(51)(52)(53). Heart failure and atrial or ventricular arrhythmias occur only in a minority of patients; however, the risk may increase as patients with a pacemaker survive longer (47,49).…”

“…LV dysfunction and atrial paralysis can also be observed (46,47). Sudden death is common and highly unpredictable (48,49); therefore, pacemakers are often needed at 30 years of age (range 14 to 44 years) (50)(51)(52)(53).…”