Cardiac involvement in Emery-Dreifuss muscular dystrophy

• Published in: Clinical genetics Vol. 67; no. 3; pp. 220 - 223
• Main Authors: Wessely, R, Seidl, S, Schömig, A
• Format: Journal Article
• Language: English
• Published: Oxford, UK; Malden, USA Blackwell Publishing Ltd/Inc 01.03.2005; Blackwell; Blackwell Publishing Ltd
• Subjects: Adipose Tissue - pathology; Adult; Biological and medical sciences; Cardiac arrhythmia; Cardiology. Vascular system; cardiomyopathy; Clinical outcomes; conduction disease; Diseases of striated muscles. Neuromuscular diseases; Dyspnea - etiology; Electrocardiography; Emery-Dreifuss; Female; Fibrosis - pathology; Gene expression; General aspects. Genetic counseling; Genetics; Heart; Heart Block - etiology; Heart Diseases - genetics; Humans; lamin A/ C; Medical genetics; Medical sciences; Muscular Dystrophies - complications; Muscular Dystrophies - genetics; Muscular dystrophy; Mutation; Mutation, Missense; Myocarditis. Cardiomyopathies; Myocardium - pathology; Neurology; Prognosis; Syncope - etiology; Heart; Human; Conduction; Neuromuscular diseases; Nervous system diseases; Cardiomyopathy; Cardiovascular disease; Myocardial disease; Muscular dystrophy; Emery-Dreifuss; conduction disease; Genetic disease; Emery Dreifuss muscular dystrophy; Heart disease; Genetics; lamin A/ C; Mutation
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.2004.00395.x

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.