Emery-Dreifuss progressive muscular dystrophy: cardiac pacing for primary prevention of sudden cardiac death
Автор: Mironovich S.A., Shestak A.G., Podolyak D.G., Zaklyazminskaya E.V., Dzemeshkevich S.L.
Журнал: Патология кровообращения и кардиохирургия @journal-meshalkin
Рубрика: Случаи из клинической практики
Статья в выпуске: 1 т.19, 2015 года.
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Permanent cardiac pacing is the only effective method for treating bradyarrhythmias and conduction disturbances of the heart, as well as for preventing the most severe complication of the disease - sudden cardiac death. We present the description of a family with Emery Dreifuss muscular dystrophy and progressive cardiac conduction disturbances, as well as the results of clinical examination of the family and surgical treatment. A new rare genetic variant s.513 + 45T>G in the LMNA gene, potentially violating mRNA splicing, was identified. The precise etiologic diagnosis of bradyarrhythmias, timely examination of family members and determination of optimal timing for pacemaker implantation require an integrating approach and accounting of clinical, electrophysiological and genetic factors.
Emery dreifuss progressive muscular dystrophy, lmna, laminopathy, cardiac pacing, bradyarrhythmia, dna-diadnostics
Короткий адрес: https://sciup.org/142140647
IDR: 142140647