Cardiac involvement in Emery-Dreifuss muscular dystrophy |
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Authors: | Wessely R Seidl S Schömig A |
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Institution: | 1. Institut für Allgemeine Pathologie und pathologische Anatomie, Technische Universität, Munich, Germany;2. Deutsches Herzzentrum and 1. Medizinische Klinik, Klinikum rechts der Isar der Technischen Universität, and |
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Abstract: | 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. |
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Keywords: | cardiomyopathy conduction disease Emery–Dreifuss lamin A/ C muscular dystrophy mutation |
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