avkАрхивъ внутренней медициныThe Russian Archives of Internal Medicine2226-67042411-6564“SINAPS” LLC10.20514/2226-6704-2024-14-5-381-393NKBYXFavk-1854Research ArticleРАЗБОР КЛИНИЧЕСКИХ СЛУЧАЕВANALYSIS OF CLINICAL CASESLMNA-кардиомиопатия при мышечной дистрофии Эмери-ДрейфусаLMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophyhttps://orcid.org/0000-0001-7479-418XРезникЕ. В.ResnikE. V.

Резник Елена Владимировна — д.м.н., доцент, заведующий кафедрой пропедевтики внутренних болезней лечебного факультета; врач-кардиолог, терапевт, врач функциональной диагностики

Москва

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

Moscow

elenaresnik@gmail.comhttps://orcid.org/0009-0002-7711-1836КовалёваА. А.KovalevaA. A.

Анастасия Алексеевна Ковалёва — старший лаборант кафедры пропедевтики внутренних болезней лечебного факультета 

Москва

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

Moscow

platina17_10@mail.ruhttps://orcid.org/0000-0003-4639-7237ШурдумоваМ. Х.ShurdumovaM. Kh.

Марина Хасановна Шурдумова — к.м.н., доцент кафедры неврологии нейрохирургии и медицинской генетики; заведующий отделением неврологии для больных с ОНМК

Москва

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

dr_shurdumova@mail.ruЕмельяновичД. Е.EmelyanovichD. E.

Дмитрий Евгеньевич Емельянович — к.м.н., заведующий отделением кардиологии

Москва

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

Moscow

dmitryemel@mail.ruhttps://orcid.org/0000-0002-9979-4140СмирновА. П.SmirnovA. P.

Андрей Павлович Смирнов — главный врач, врач-невролог; доцент кафедры неврологии, нейрохирургии и медицинской генетики лечебного факультета

Москва

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

 

gp212@zdrav.mos.ruhttps://orcid.org/0000-0001-8491-0228ВоиноваВ. Ю.VoinovaV. Y.

Воинова Виктория Юрьевна — д.м.н., заведующая отделом клинической генетики Научно-исследовательского клинического института педиатрии и детской хирургии имени академика Ю.Е. Вельтищева, заведующая кафедрой общей и медицинской генетики Медико-биологического факультета

Москва

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

vivoinova@yandex.ruФГАОУ ВО «РНИМУ им. Н.И. Пирогова Минздрава России»; ГБУЗ «ГКБ № 31 им. акад. Г.М. Савельевой ДЗМ»РоссияPirogov Russian National Research Medical University; City Clinical Hospital № 31 named after academician G M Savelyeva of the Department of Health of the City of MoscowRussian FederationГБУЗ «ГКБ № 31 им. акад. Г.М. Савельевой ДЗМ»РоссияCity Clinical Hospital № 31 named after academician G M Savelyeva of the Department of Health of the City of MoscowRussian FederationФГАОУ ВО «РНИМУ им. Н.И. Пирогова Минздрава России»; ГБУЗ «ГП № 212 ДЗМ»РоссияPirogov Russian National Research Medical University; City Polyclinic № 212 of the Department of Health of the City of MoscowRussian FederationФГАОУ ВО «РНИМУ им. Н.И. Пирогова Минздрава России»РоссияPirogov Russian National Research Medical UniversityRussian Federation202414102024145381393Copyright © Резник Е.В., Ковалёва А.А., Шурдумова М.Х., Емельянович Д.Е., Смирнов А.П., Воинова В.Ю., 20242024Резник Е.В., Ковалёва А.А., Шурдумова М.Х., Емельянович Д.Е., Смирнов А.П., Воинова В.Ю.Resnik E.V., Kovaleva A.A., Shurdumova M.K., Emelyanovich D.E., Smirnov A.P., Voinova V.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medarhive.ru/jour/article/view/1854

Мышечная дистрофия Эмери-Дрейфуса — редкое заболевание, возникающее вследствие генетического дефекта белков ядерной оболочки, чаще эмерина и ламина А/С. Заболевание проявляется медленно прогрессирующей слабостью лопаточно-плечевой и тазово-перонеа льной групп мышц, миодистрофией, первичной контрактурой суставов, а также кардиомиопатией с нарушениями ритма и проводимости. Сердечно-сосудистые осложнения и жизнеугрожающие аритмии — основная причина смерти таких пациентов в молодом возрасте. В зависимости от ведущих симптомов и наследственного анамнеза больные попадают в поле зрения разных клиницистов — неврологов, кардиологов, аритмологов, ортопедов, — часто недостаточно информированных о данном заболевании, что препятствует диагностике, своевременной профилактике и лечению осложнений. В данной статье рассмотрены данные эпидемиологии, патофизиологии, особенности течения, диагностики, подходы к ведению сердечно-сосудистой патологии при прогрессирующей мышечной дистрофии Эмери-Дрейфуса с развитием LMNA-кардиомиопатии. А также представлен клинический случай данного заболевания.

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.

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The authors declare that there are no conflicts of interest present.