title: Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series.
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.
authors.affiliation: Department of Cardiology, Aberdeen Royal Infirmary, Foresterhill, Aberdeen AB25 2ZN, UK.
authors.forename: A E
authors.initials: AE
authors.lastname: Buckley
authors.forename: J
authors.initials: J
authors.lastname: Dean
authors.forename: I R
authors.initials: IR
authors.lastname: Mahy
mesh_terms: D000328:Adult; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D008040:Genetic Linkage; D006325:Heart Atria; D006327:Heart Block / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D020389:Muscular Dystrophy, Emery-Dreifuss; D009687:Nuclear Proteins; D010243:Paralysis / Q000235:genetics* / Q000503:physiopathology; D013946:Thymopoietins / Q000235:genetics; D014960:X Chromosome
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin