Age-related changes in cardiomyopathic phenotype in patients with barth syndrome

Abstract

Age-related changes in cardiomyopathic phenotype in patients with barth syndrome With current treatment options for BTHS cardiomyopathic phenotype focused predominantly on alleviating symptoms, Dr Hani N. Sabbah, Director of Cardiovascular Research at Henry Ford Health, explores the potential of more targeted treatment approaches. Barth syndrome (BTHS) is a rare, X-linked disease caused by defects in the TAFAZZIN gene encoding an acyltransferase responsible for the remodeling/maturation of cardiolipin (critical to mitochondrial structure/function).(1) The most common clinical manifestation of BTHS is cardiomyopathy (~90% of BTHS patients) with a wide range of phenotypical presentations.(2,3) Mechanisms contributing to BTHS cardiomyopathy pathophysiology include abnormal mitochondrial structure/function,(4) defective mitochondrial calcium uptake,(5) a mismatch between ATP supply and demand,(6) and altered lipid/glucose metabolism.(7) The BTHS cardiomyopathic phenotypes appear to evolve with advancing age, which may be useful in treatment selection.