rpcardioRational Pharmacotherapy in CardiologyРациональная Фармакотерапия в Кардиологии1819-64462225-3653«SILICEA-POLIGRAF» LLC10.20996/1819-6446-2021-01-05rpcardio-2394Research ArticlePOINT OF VIEWТОЧКА ЗРЕНИЯCardiomyopathy of Friedreich's Disease. Modern Methods of DiagnosticКардиомиопатия при болезни Фридрейха: современные методы диагностикиhttps://orcid.org/0000-0002-5538-9450ФомичеваЕ. И.FomichevaE. I.

Фомичева Екатерина Игоревна

Москва

eLibrary SPIN: 3287-0327

Ekaterina I. Fomicheva

Moscow

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fomicheva_ei@mail.ruhttps://orcid.org/0000-0002-9024-5364МясниковР. П.MyasnikovR. P.

Мясников Роман Петрович

Москва

eLibrary SPIN:3154-4652

Roman P. Myasnikov

Moscow

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https://orcid.org/0000-0002-6400-6378СеливерстовЮ. А.SelivyorstovY. A.

Селивёрстов Юрий Александрович

Москва

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Yurii A. Selivyorstov

Moscow

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https://orcid.org/0000-0002-2704-6282ИллариошкинС. Н.IllarioshkinS. N.

Иллариошкин Сергей Николаевич

Москва

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Sergey N. Illarioshkin

Moscow

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https://orcid.org/0000-0001-5602-2805ДадалиЕ. Л.DadaliE. L.

Дадали Елена Леонидовна

Москва

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Elena L. Dadali

Moscow

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https://orcid.org/0000-0002-4453-8430ДрапкинаО. М.DrapkinaO. M.

Драпкина Оксана Михайловна

Москва

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Oxana M. Drapkina

Moscow

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Национальный медицинский исследовательский центр терапии и профилактической медициныРоссияNational Medical Research Center for Therapy and Preventive MedicineRussian FederationНаучный центр неврологииРоссияNational Medical Research Center for Therapy and Preventive MedicineRussian FederationМедико-генетический научный центр им. академика Н.П. БочковаРоссияNational Medical Research Center for Therapy and Preventive MedicineRussian Federation202102032021171105110Copyright © Fomicheva E.I., Myasnikov R.P., Selivyorstov Y.A., Illarioshkin S.N., Dadali E.L., Drapkina O.M., 20212021Фомичева Е.И., Мясников Р.П., Селиверстов Ю.А., Иллариошкин С.Н., Дадали Е.Л., Драпкина О.М.Fomicheva E.I., Myasnikov R.P., Selivyorstov Y.A., Illarioshkin S.N., Dadali E.L., Drapkina O.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.rpcardio.online/jour/article/view/2394

Friedreich's disease is a hereditary neurodegenerative multiple organ disease, primarily affecting the most energy-dependent tissues (cells of the nervous system, myocardium, pancreas), the lesion of which is characterized by progressive ataxia, dysarthria, dysphagia, oculomotor disorders, loss of deep tendon reflexes, pyramid signs, diabetes mellitus, visual impairment. Friedreich's ataxia is the most common of all hereditary ataxias; nevertheless, this disease is considered orphan. By its pathogenesis, Friedreich's disease is mitochondrial ataxia, caused by a deficiency in the transcription of the FXN gene, leading to a decrease in the synthesis of the frataxin protein. Frataxin is a protein associated with the inner mitochondrial membrane, which in turn is involved in the formation of iron-sulfur clusters, the lack of which leads to a decrease in the production of mitochondrial ATP, an increase in the level of mitochondrial iron and oxidative stress. The basis of the clinical picture of Friedreich's disease is ataxia of a mixed (sensitive and cerebellar) nature. The steady and gradual progression of neurological symptoms significantly affects the quality of life of patients and is most often the leading reason for seeking medical attention. However, the prognosis is primarily due to the involvement of cardiac tissue in the pathological process. The main causes of death in patients with Friedreich's ataxia are severe heart failure and sudden cardiac death due to cardiomyopathy. The overwhelming majority of foreign and domestic publications on Friedreich's ataxia are devoted to the neurological manifestations of this disease, and little attention is paid to this problem in the cardiological scientific and practical society. The purpose of this review is to provide up-to-date information on modern methods of diagnosing myocardial damage at various stages of Friedreich's disease.

Болезнь Фридрейха является наследственным нейродегенеративным полиорганным заболеванием, в первую очередь, затрагивающим наиболее энергозависимые ткани (клетки нервной системы, миокарда, поджелудочной железы), поражение которых характеризуется прогрессирующей атаксией, дизартрией, дисфагией, глазодвигательными нарушениями, потерей глубоких сухожильных рефлексов, пирамидными знаками, сколиозом, кардиомиопатией, сахарным диабетом, нарушением зрения. Атаксия Фридрейха наиболее распространенная из всех наследственных атаксий, тем не менее, это заболевание считается орфанным. По своему патогенезу болезнь Фридрейха является митохондриальной атаксией, обусловленной дефицитом транскрипции гена FXN, приводящим к снижению синтеза белка фратаксина. Фратаксин – белок, связанный с внутренней мембраной митохондрий, участвующий в формировании железосерных кластеров, недостаток которых приводит к снижению продукции митохондриальной АТФ, повышению уровня митохондриального железа и окислительному стрессу. Основой клинической картины болезни Фридрейха является атаксия смешанного (сенситивная и мозжечковая) характера. Неуклонное и постепенное прогрессирование неврологической симптоматики значительно влияет на качество жизни пациентов и чаще всего является ведущей причиной обращения к врачу. Прогноз, в первую очередь, обусловлен вовлечением в патологический процесс сердечной ткани, основной причиной смерти пациентов с атаксией Фридрейха являются тяжелая сердечная недостаточность и внезапная сердечная смерть вследствие кардиомиопатии. Подавляющее количество зарубежных и отечественных публикаций по атаксии Фридрейха посвящены неврологическим проявлениям этого заболевания, а в кардиологическом научно-практическом обществе данной проблеме уделяется мало внимания. Целью данного обзора является представление актуальной информации по современным методам диагностики поражения миокарда на различных стадиях болезни Фридрейха.

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