BARTH’S SYNDROME: BRIEF REVIEW AND CLINICAL CASE

Abstract

The article describes a rare progressive disease of the cardiovascular system, hereditary mitochondrial pathology - Barth’s syndrome (3-methylglutacone aciduria type 2). A list of diseases for the differential diagnosis is given. A case of clinical observation of Barth’s syndrome is considered. In the presented case, the disease manifested itself at the age of up to one year and was characterized by the signs of heart failure, muscle hypotension, and a decrease in the number of neutrophils in the peripheral blood. The child was repeatedly observed in the hospital, received treatment with an inhibitor of an angio-converting enzyme, digoxin, acetylsalicylic acid, was consulted by a geneticist. A splicing mutation was revealed in the 3rd exon of the taphazin gene. The combination in the clinical picture of the signs of heart failure, muscle hypotension, protein-energy insufficiency, neutropenia, onset in the first year of life, a decrease in the contractility of the left ventricular myocardium, an increase in the size of the heart and a decrease in its contractility gave rise to suspicion of this disease. Barth’s syndrome was confirmed by genetic testing.