Barth syndrome in an adult patient: an overview of the problem and case report. A review
- Authors: Muksinova M.D.1, Osmolovskaya Y.F.1, Leontyeva I.V.2, Galaeva M.A.1, Stukalova O.V.1, Beniashvili A.G.3, Safiullina A.A.1, Zhirov I.V.1, Tereshchenko S.N.1
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Affiliations:
- Chazov National Medical Research Center of Cardiology
- Pirogov Russian National Research Medical University
- Mental Health Science Center
- Issue: Vol 96, No 8 (2024): Вопросы лечения
- Pages: 812-819
- Section: Reviews
- URL: https://journal-vniispk.ru/0040-3660/article/view/266647
- DOI: https://doi.org/10.26442/00403660.2024.08.202815
- ID: 266647
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Abstract
Barth syndrome is a rare genetic disease caused by abnormal cardiolipin metabolism, characterized by high mortality within 5 years of diagnosis due to heart failure and/or infectious complications. This article describes a clinical case of an adult patient with Barth syndrome. The peculiarities of the course of the disease are described, including the transformation of the hypertrophic type of cardiomyopathy into the hypokinetic type as the patient grew older. This article demonstrates the difficulty in selecting the optimal treatment of a patient with Barth syndrome in real clinical practice, in the absence of clearly prescribed recommendations and pathogenetic therapy.
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##article.viewOnOriginalSite##About the authors
Marina D. Muksinova
Chazov National Medical Research Center of Cardiology
Author for correspondence.
Email: mmd6638@yandex.ru
ORCID iD: 0000-0001-6516-5322
канд. мед. наук, врач-кардиолог отд-ния заболеваний миокарда и сердечной недостаточности
Russian Federation, MoscowYulia F. Osmolovskaya
Chazov National Medical Research Center of Cardiology
Email: mmd6638@yandex.ru
ORCID iD: 0000-0002-7827-2618
канд. мед. наук, зав. отд-нием заболеваний миокарда и сердечной недостаточности
Russian Federation, MoscowIrina V. Leontyeva
Pirogov Russian National Research Medical University
Email: mmd6638@yandex.ru
ORCID iD: 0000-0002-5273-6859
д-р мед. наук, проф., гл. науч. сотр. отд. детской кардиологии и аритмологии
Russian Federation, MoscowMareta A. Galaeva
Chazov National Medical Research Center of Cardiology
Email: mmd6638@yandex.ru
ORCID iD: 0000-0002-8097-9030
врач отд-ния ультразвуковых методов исследования
Russian Federation, MoscowOlga V. Stukalova
Chazov National Medical Research Center of Cardiology
Email: mmd6638@yandex.ru
ORCID iD: 0000-0001-8377-2388
канд. мед. наук, ст. науч. сотр. лаб. магнитно-резонансной томографии
Russian Federation, MoscowAllan G. Beniashvili
Mental Health Science Center
Email: mmd6638@yandex.ru
ORCID iD: 0000-0002-5149-3760
канд. мед. наук, ст. науч. сотр. лаб. психофармакологии
Russian Federation, MoscowAlfiya A. Safiullina
Chazov National Medical Research Center of Cardiology
Email: mmd6638@yandex.ru
ORCID iD: 0000-0003-3483-4698
д-р мед. наук, науч. сотр. отд. заболеваний миокарда и сердечной недостаточности
Russian Federation, MoscowIgor V. Zhirov
Chazov National Medical Research Center of Cardiology
Email: mmd6638@yandex.ru
ORCID iD: 0000-0002-4066-2661
д-р мед. наук, проф., вед. науч. сотр. отд. заболеваний миокарда и сердечной недостаточности
Russian Federation, MoscowSergey N. Tereshchenko
Chazov National Medical Research Center of Cardiology
Email: mmd6638@yandex.ru
ORCID iD: 0000-0001-9234-6129
д-р мед. наук, проф., рук. отд. заболеваний миокарда и сердечной недостаточности
Russian Federation, MoscowReferences
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