· Introduction. Barth syndrome (BTHS) is a rare X-linked recessive condition, first described by Peter Barth in 1983, with the classic triad of cardiomyopathy, skeletal myopathy, and neutropenia. 1 The pathogenesis is related to mutations in the tafazzin (TAZ) gene, responsible for cardiolipin remodelling, with consequent alteration of normal mitochondrial activity in ….