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[Barth syndrome in an adult patient: an overview of the problem and case report. A review].

Authors :
Muksinova MD
Osmolovskaya YF
Leontyeva IV
Galaeva MA
Stukalova OV
Beniashvili AG
Safiullina AA
Zhirov IV
Tereshchenko SN
Source :
Terapevticheskii arkhiv [Ter Arkh] 2024 Sep 14; Vol. 96 (8), pp. 812-819. Date of Electronic Publication: 2024 Sep 14.
Publication Year :
2024

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.

Details

Language :
Russian
ISSN :
0040-3660
Volume :
96
Issue :
8
Database :
MEDLINE
Journal :
Terapevticheskii arkhiv
Publication Type :
Academic Journal
Accession number :
39404727
Full Text :
https://doi.org/10.26442/00403660.2024.08.202815