Cardiac Involvement in Emery‐Dreifuss Muscular Dystrophy: Role of a Diagnostic Pacemaker

Abstract

Emery-Dreifuss muscular dystrophy is an X-linked recessive myopathy. Its progression is slow, and it rarely leads to cessation of walking; therefore, it has often been called "benign." On the other hand, cardiac involvement is often severe and sudden death is not uncommon. We describe a family with four affected males, two of whom died suddenly. The case of an affected man with first-degree AV block, incomplete right bundle branch block, and left anterior fascicular block is described in detail. The prophylactic insertion of a diagnostic pacemaker enabled us to follow the progress of conduction disturbances without leaving the patient unprotected. While AV and intraventricular conduction defects were more prominent before pacemaker implantation, sinus node dysfunction became more important during the follow-up.

The electrocardiogram in the diagnosis and management of patients with dilated cardiomyopathy

“…Similar to the LMNA variants, variants in the emerin gene (EMD or STA), responsible for Emery-Dreifuss muscular dystrophy, frequently lead to conduction disturbances 40 and supraventricular arrhythmias. 41…”

Influence of Botulinum Toxin Type A Treatment of Elbow Flexor Spasticity on Hemiparetic Gait

“…9 Interestingly, a paretic upper limb treated with electrical stimulation has been correlated with improved gait parameters, highlighting the potential influence of "remote" upper-limb motor deficits on gait. 7 Hirsch et al 10 report that treatment of the hemiparetic upper limb attributable to stroke with botulinum toxin type A (BoNTA; DYSPORT, Ipsen Ltd., UK) correlated with improvement of several parameters of gait, including stride time and ankle and knee range of motion. A number of our own patients reported to us that they walked better and faster after they were treated with focal chemodenervation in the upper extremity.…”

Echocardiographic assessment of left ventricular morphology and function in patients with Emery–Dreifuss muscular dystrophy

“…Although, it is well documented that patients with EDMD develop supraventricular arrhythmias and atrioventricular conduction abnormalities [4,14,15], data on left ventricular morphology and function in this group are limited. We performed an echocardiographic study to address this problem.…”