Abstract
Barth syndrome (BTHS) is a gonosomal recessive disease characterized by heart involvement, neutropenia, myopathy, and growth retardation. The case report presents a nearly four-year-old boy who was hospitalized at our centre at the age of four months with a severe form of dilated cardiomyopathy.
Treatment for heart failure was commenced. The investigations performed failed to show an infectious or other aetiology of the condition.
As part of a broader differential diagnostic approach, the child underwent screening for metabolic disorders that showed 3-methylglutaconic aciduria. Barth syndrome was suspected and subsequently confirmed by molecular genetic testing with a finding of a hemizygous mutation (c. 109 + 6T > C) in the TAZ gene.
Due to timely diagnosis and comprehensive treatment of heart failure, there has been improvement and, over time, even normalization of cardiac function. The aim of the paper is to highlight this rare condition and provide basic information on it.