Clinical presentation and natural history of Barth Syndrome: An overview.

Carolyn Taylor, Emily S Rao, Germaine Pierre, Estathia Chronopoulou, Brittany Hornby, Andrea Heyman, Hilary J Vernon

Journal: Journal of inherited metabolic disease 2022;45(1):7-16

PMID: 34355402

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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.

Address: Department of Pediatrics, Division of Cardiology, Children's Hospital, Medical University of South Carolina, Charleston, South Carolina, USA.; Department of Pediatrics, Division of Hematology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.; Department of Physical Therapy, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Nutrition, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

DOI: 10.1002/jimd.12422

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MeSH Terms: Acyltransferases, Barth Syndrome, Cardiolipins, Cardiomyopathies, Humans, Mitochondrial Membranes, Muscular Diseases, Mutation, Neutropenia