[Cardiologic evaluation in a family with Emery-Dreifuss muscular dystrophy]

Emery-Dreifuss muscular dystrophy is an X-linked recessive condition characterized by mild muscular weakness predominantly in a humero-peroneal distribution with variable facial involvement. Onset is in childhood with slow progression of weakness. The disease is often associated with cardiac involvement, mainly with bradyarrhythmias which might be responsible for sudden death. The most striking finding derived from the literature is the high incidence of sudden death; in the 7 large families described, out of the 79 reported patients 32 died suddenly at a young age (between 25 and 56 years). We performed a cardiologic evaluation of 11 subjects of a large italian family with affected males in four generations: 5 affected males (3 adults and 2 boys), 3 carriers and 3 healthy relatives (2 females and 1 male). Supraventricular arrhythmias were documented either in the dystrophic males or in the carriers. There was no correlation between the severity of cardiac rhythm abnormality and the severity of muscular weakness in the affected males, 3 of whom required pacemaker insertion. All the carriers were free of muscular involvement, but showed arrhythmias of variable degree, in one case requiring pacemaker insertion. In conclusion our data indicate an extremely high incidence of bradyarrhythmias, sometimes serious, in patients with Emery-Dreifuss muscular dystrophy. Holter monitoring is therefore mandatory and electrophysiological study is sometime necessary. Because of the high risk of sudden death in adult patients, we recommend permanent pacemaker implantation even in asymptomatic subjects, as soon as bradyarrhythmias are detected.