Abstract
Three patients with Emery Dreifuss muscular dystrophy are reported. Emery Dreifuss muscular dystrophy is an X linked muscular dystrophy, in which locomotor involvement is characteristically mild and slowly progressive. The effect on the heart becomes apparent in the teenage years and is characterised by cardiac conduction defects and infiltration of the myocardium by fibrous and adipose tissue. It first affects the atria, which results in atrial paralysis; treatment with ventricular pacing is usually needed. Female carriers can develop heart problems and are at risk of sudden death. Relatives of affected patients should be offered screening with electrocardiography and echocardiography. Keywords: Emery Dreifuss muscular dystrophy; atrial paralysis; sudden death
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Figure 1 .
12 lead ECG of case 1 showing a junctional bradycardia of 37 beats/min. P waves are absent.
Figure 2 .
Transthoracic echocardiogram of case 1 (apical four chamber view) showing marked right atrial dilatation. The echodense area in the region of the tricuspid valve is due to reflected echoes from a ventricular pacing lead. RA, right atrium.