Article
Temporal evolution of the heart failure phenotype in Barth syndrome and treatment with elamipretide.
Future cardiology - 1 Mar 2023
Sabbah Hani N, Taylor Carolyn, Vernon Hilary J
Abstract excerpt
Barth syndrome (BTHS) is a rare genetic disorder caused by pathogenic variants in TAFAZZIN leading to reduced remodeled cardiolipin (CL), a phospholipid essential to mitochondrial function and structure. Cardiomyopathy presents in most patients with BTHS, typically appearing as dilated cardiomyopathy (DCM) in infancy and evolving to hypertrophic cardiomyopathy (HCM) resembling heart failure (HF) with preserved...
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