Cardiac involvement in Emery-Dreifuss muscular dystrophy.
Emery-Dreifuss muscular dystrophy (EDMD) is a common form of muscular dystrophy frequently involving cardiac muscle, thus leading to dilated cardiomyopathy. Clinical outcome and prognosis is frequently determined by the involvement of the cardiac conduction system causing symptomatic bradyarrhythmias, as well as tachyarrhythmias and, if untreated, frequent sudden cardiac death. Typical features of the cardiac involvement of EDMD are presented, caused by a novel missense mutation in the splice receptor sequence of intron 6 of the LMNA gene on chromosome 1, encoding for the lamin A/C gene, consistent with the autosomal dominant form of EDMD.
Wessely
R
R
Deutsches Herzzentrum and 1. Medizinische Klinik, Klinikum rechts der Isar der Technischen Universität, Munich, Germany. rwessely@dhm.mhn.de
Seidl
S
S
Schömig
A
A
D000273:Adipose Tissue / Q000473:pathology; D000328:Adult; D004417:Dyspnea / Q000209:etiology; D004562:Electrocardiography; D005260:Female; D005355:Fibrosis / Q000473:pathology; D006327:Heart Block / Q000209:etiology*; D006331:Heart Diseases / Q000235:genetics*; D006801:Humans; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics; D020125:Mutation, Missense; D009206:Myocardium / Q000473:pathology*; D011379:Prognosis; D013575:Syncope / Q000209:etiology