| Autor: |
Muksinova MD; Chazov National Medical Research Center of Cardiology., Osmolovskaya YF; Chazov National Medical Research Center of Cardiology., Leontyeva IV; Pirogov Russian National Research Medical University., Galaeva MA; Chazov National Medical Research Center of Cardiology., Stukalova OV; Chazov National Medical Research Center of Cardiology., Beniashvili AG; Mental Health Science Center., Safiullina AA; Chazov National Medical Research Center of Cardiology., Zhirov IV; Chazov National Medical Research Center of Cardiology., Tereshchenko SN; Chazov National Medical Research Center of Cardiology. |
| Jazyk: |
ruština |
| Zdroj: |
Terapevticheskii arkhiv [Ter Arkh] 2024 Sep 14; Vol. 96 (8), pp. 812-819. Date of Electronic Publication: 2024 Sep 14. |
| DOI: |
10.26442/00403660.2024.08.202815 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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