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LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

https://doi.org/10.20514/2226-6704-2024-14-5-381-393

EDN: NKBYXF

Abstract

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.

About the Authors

E. V. Resnik
Pirogov Russian National Research Medical University; City Clinical Hospital № 31 named after academician G M Savelyeva of the Department of Health of the City of Moscow
Russian Federation

Elena V. Reznik — MD, Head of the Department of Propedeutics of Internal Diseases of the medical faculty; Cardiologist of the GBUZ

Moscow


Competing Interests:

The authors declare no conflict of interests



A. A. Kovaleva
Pirogov Russian National Research Medical University; City Clinical Hospital № 31 named after academician G M Savelyeva of the Department of Health of the City of Moscow
Russian Federation

Anastasia A. Kovaleva — Senior laboratory assistant of the Department of Propaedeutics of Internal Diseases of the Faculty of Medicine

Moscow


Competing Interests:

The authors declare no conflict of interests



M. Kh. Shurdumova
Pirogov Russian National Research Medical University; City Clinical Hospital № 31 named after academician G M Savelyeva of the Department of Health of the City of Moscow
Russian Federation

Marina Kh. Shurdumova — PhD, Associate Professor of the Department of Neurology, Neurosurgery and Medical Genetics; Head of the Department of Neurology for Patients with Acute Cerebrovascular Accidents

Moscow


Competing Interests:

The authors declare no conflict of interests



D. E. Emelyanovich
City Clinical Hospital № 31 named after academician G M Savelyeva of the Department of Health of the City of Moscow
Russian Federation

Dmitriy E. Emelyanovich — PhD, Head of the Cardiology Department, State Budgetary Healthcare

Moscow


Competing Interests:

The authors declare no conflict of interests



A. P. Smirnov
Pirogov Russian National Research Medical University; City Polyclinic № 212 of the Department of Health of the City of Moscow
Russian Federation

Andrey P. Smirnov — Chief physician, neurologist of the State Budgetary Healthcare Institution; Associate Professor of the Department of Neurology, Neurosurgery and Medical Genetics of the Faculty of Medicine

Moscow

 


Competing Interests:

The authors declare no conflict of interests



V. Y. Voinova
Pirogov Russian National Research Medical University
Russian Federation

Victoria Y. Voinova — MD, PhD, Head of the Department of Clinical Genetics, Research Clinical Institute of Pediatrics and Pediatric Surgery named after Academician Yu.E. Veltishchev Federal State Autonomous Educational Institution; Head of the Department of General and Medical Genetics, Faculty of Medical Biology

Moscow


Competing Interests:

The authors declare no conflict of interests



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Resnik E.V., Kovaleva A.A., Shurdumova M.Kh., Emelyanovich D.E., Smirnov A.P., Voinova V.Y. LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy. The Russian Archives of Internal Medicine. 2024;14(5):381-393. https://doi.org/10.20514/2226-6704-2024-14-5-381-393. EDN: NKBYXF

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ISSN 2226-6704 (Print)
ISSN 2411-6564 (Online)