Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Barth Syndrome

  • Persio Roxo-JuniorEmail author
  • Isabela Mina
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_156-1

Definition

Barth syndrome (synonyms: X-linked cardioskeletal myopathy, neutropenia and abnormal mitochondria, 3-methylglutaconic aciduria type II, endocardial fibroelastosis type 2), is a mitochondrial disease (Rezaei et al. 2009; Imai-Okazaki et al. 2018) that presents phenotypic and allelic heterogeneity (Imai-Okazaki et al. 2018). This syndrome is characterized by neutropenia, dilated cardiomyopathy, hypocholesterolemia, aciduria, skeletal myopathy, growth retardation, and cognitive impairment (Rezaei et al. 2009; Imai-Okazaki et al. 2018; Jefferies 2013).

The syndrome was firstly described by Barth et al. in a large Dutch family.

Introduction

Barth syndrome is an X-linked recessive disease generally caused by mutations in the TAZ gene (Rezaei et al. 2009; Imai-Okazaki et al. 2018; Jefferies 2013), which encodes the tafazzin protein. Tafazzin is a phospholipid acyltransferase that is involved in remodeling cardiolipin, which is necessary to maintain mitochondrial structure.

The...

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References

  1. Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, et al. Barth syndrome: different approaches to diagnosis. J Pediatr. 2018;193:256–260CrossRefPubMedGoogle Scholar
  2. Jefferies JL. Barth syndrome. Am J Med Genet C Semin Med Genet. 2013;163C(3):198–205.CrossRefPubMedGoogle Scholar
  3. Kang SL, Forsey J, Dudley D, Steward CG, Tsai-Goodman B. Clinical characteristics and outcomes of cardiomyopathy in Barth syndrome: the UK experience. Pediatr Cardiol. 2016;37(1):167–76.CrossRefPubMedGoogle Scholar
  4. Reynolds S. Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. J Multidiscip Healthc. 2015;8:345–58.CrossRefPubMedPubMedCentralGoogle Scholar
  5. Rezaei N, Moazzami K, Aghamohammadi A, Klein C. Neutropenia and primary immunodeficiency diseases. Int Rev Immunol. 2009;28(5):335–66.CrossRefPubMedGoogle Scholar
  6. Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, et al. Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn. 2010;30(10):970–6.CrossRefPubMedPubMedCentralGoogle Scholar
  7. Wintergerst U, Kuijpers TW, Rosenzweig SD, Holland SM, Abinun M, Malech HL, Rezaei N. Phagocytes defects. In: Rezaei N, Aghamohammadi A, Notarangelo LD, editors. Primary immunodeficiency diseases: definition, diagnosis, and management. 2nd ed. Springer; Verlag, Berlin, Heidelberg. 2018. p. 279–80.Google Scholar

Copyright information

© Springer Science+Business Media LLC 2018

Authors and Affiliations

  1. 1.Division of Immunology and Allergy, Department of Pediatrics, Ribeirão Preto Medical SchoolUniversity of São PauloRibeirão PretoBrazil

Section editors and affiliations

  • Antonio Condino-Neto
    • 1
  1. 1.Institute of Biomedical SciencesUniversity of São PauloSão PauloBrasil