A very high risk of cardiac complications in Emery-Dreifuss muscular dystrophy

An international consortium of researchers and clinicians investigated disorders of cardiac function and/or cardiac rhythm during the course of Emery-Dreifuss muscular dystrophy linked to the gene encoding emerin (EMD1) of X-linked recessive transmission :

• longitudinal clinical and electrophysiological data from 38 men with EMD1 and 21 symptomatic female EMD1 transmitters were analysed in the study,
• the incidence of severe conduction disorders and significant deterioration in left ventricular function appears to be very high in this population,
• these complications are comparable to those observed in patients with the autosomal dominantEn génétique, c’est la caractéristique d’un individu qui n’a besoin que d’un seul exemplaire d’un certain gène (allèle) pour s’exprimer. Cet exemplaire unique peut venir du père ou de la mère. form of Emery-Dreifuss muscular dystrophy (EMD2).

Consequently, the authors recommend a more pro-active prophylactic approach for EMD1.

Emery-Dreifuss Muscular Dystrophy 1 is associated with high risk of malignant ventricular arrhythmias and end-stage heart failure. Cannie DE, Syrris P, Protonotarios A et al. Eur Heart J. 2023 Aug.