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Review
. 2022 Jan;45(1):7-16.
doi: 10.1002/jimd.12422. Epub 2021 Aug 15.

Clinical presentation and natural history of Barth Syndrome: An overview

Carolyn Taylor  1 , Emily S Rao  2 , Germaine Pierre  3 , Estathia Chronopoulou  3 , Brittany Hornby  4 , Andrea Heyman  5 , Hilary J Vernon  6
Affiliations
Review

Clinical presentation and natural history of Barth Syndrome: An overview

Carolyn Taylor et al. J Inherit Metab Dis. 2022 Jan.

Abstract

Barth Syndrome is a rare X-linked disorder caused by pathogenic variants in the gene TAFAZZIN, which encodes for an enzyme involved in the remodeling of cardiolipin, a phospholipid primarily localized to the inner mitochondrial membrane. Barth Syndrome is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities, among other features. In this review, we will discuss the clinical presentation and natural history of Barth Syndrome, review key features of this disease, and introduce less common clinical associations. Recognition and understanding of the natural history of Barth Syndrome are important for ongoing patient management and developing endpoints for the demonstration of efficacy of new and emerging therapies.

Keywords: Barth Syndrome; TAFAZZIN; cardiolipin; cardiomyopathy.

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References

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