LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C. The disease is characterized by slowly progressing weakness of the scapular-brachial and pelvic-peroneal muscle groups, myodystrophy, primary joint...

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Bibliographic Details
Published in:	Arkhivʺ vnutrenneĭ medit͡s︡iny Vol. 14; no. 5; pp. 381 - 393
Main Authors:	Resnik, E. V., Kovaleva, A. A., Shurdumova, M. Kh, Emelyanovich, D. E., Smirnov, A. P., Voinova, V. Y.
Format:	Journal Article
Language:	English Russian
Published:	SINAPS LLC 14-10-2024
Subjects:	cardiomyopathy emery-dreifuss laminopathy lmna muscular dystrophy
Online Access:	Get full text
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Summary:	Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C. The disease is characterized by slowly progressing weakness of the scapular-brachial and pelvic-peroneal muscle groups, myodystrophy, primary joint contracture and cardiomyopathy with rhythm disorders and conduction abnormalities. Cardiovascular complications and life-threatening arrhythmias are the main cause of death in such patients at a young age. Depending on the leading symptoms and family history, patients are under the care of different specialists. Unfortunately, neurologists, cardiologists, cardio surgeons and orthopedics are not well informed about this rare condition and thus the disease tends to be not diagnosed in time. This article examines the data of epidemiology, pathophysiology, features of the course, diagnosis, approaches to the management of cardiovascular pathology in progressive Emery-Dreyfus muscular dystrophy with the development of LMNA cardiomyopathy. A clinical case of this disease is also given.
ISSN:	2226-6704 2411-6564
DOI:	10.20514/2226-6704-2024-14-5-381-393