Publication:

From shadows to spotlight: how two cases redefined Barth syndrome awareness in Belarus: two case reports with a literature review

Barth syndrome (BTHS) is an uncommon congenital sex-linked recessive cardiovascular disease resulting from impaired cardiolipin metabolism. The main cause of this condition is a mutation of the TAZ gene (TAFAZZIN), which activates the mitochondrial enzyme acyltransferase/transacylase, necessary for the biosynthesis of cardiolipin. The frequency of BTHS is 1 case per million men, and the total number of reported cases worldwide is about 250. The article presents 2 cases of BTHS diagnosis in the same city. A 9-year-old boy who was admitted to the intensive care unit of the Grodno Regional Children's Clinical Hospital was identified in pediatric observation. In the case of an adult patient, an 18-year-old boy was hospitalized in the Grodno Regional Cardiology Center with an exacerbation of heart failure. In both cases, cardiovascular complications were identified when an adult had an atypical phenotype of cardiomyopathy-dilated right ventricular cardiomyopathy and a broad spectrum of comorbidities, and a pediatric patient had visible cardiomegaly, which may be associated with changes in energy metabolism in the heart over time, as evidenced by imaging results. In addition, both patients underwent thorough genetic testing, which confirmed the diagnosis of BTHS in these two cases. This article illustrates the importance of raising awareness about BTHS in the Eastern European region.