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

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 t...

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Published inTerapevtic̆eskii arhiv Vol. 96; no. 8; pp. 812 - 819
Main Authors Muksinova, M D, Osmolovskaya, Y F, Leontyeva, I V, Galaeva, M A, Stukalova, O V, Beniashvili, A G, Safiullina, A A, Zhirov, I V, Tereshchenko, S N
Format Journal Article
LanguageEnglish
Russian
Published Russia (Federation) "Consilium Medicum" Publishing house 14.09.2024
Subjects
Adult
adult patient
barth syndrome
Barth Syndrome - diagnosis
Barth Syndrome - genetics
cardiomyopathy
Humans
Male
orphan disease
adult patient
orphan disease
Barth syndrome
cardiomyopathy
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Review-5
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0040-3660
2309-5342
DOI:10.26442/00403660.2024.08.202815