Skip to main content
SpringerLink
Log in
Book cover

Encyclopedia of Medical Immunology pp 1–3Cite as

Barth Syndrome

  • Living reference work entry
  • First Online:

  • 193 Accesses

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...

This is a preview of subscription content, log in via an institution.

References

  • Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, et al. Barth syndrome: different approaches to diagnosis. J Pediatr. 2018;193:256–260

    Article  PubMed  Google Scholar 

  • Jefferies JL. Barth syndrome. Am J Med Genet C Semin Med Genet. 2013;163C(3):198–205.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  PubMed Central  Google Scholar 

  • Rezaei N, Moazzami K, Aghamohammadi A, Klein C. Neutropenia and primary immunodeficiency diseases. Int Rev Immunol. 2009;28(5):335–66.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • 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 

Download references

Author information

Authors and Affiliations

  1. Division of Immunology and Allergy, Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil

    Persio Roxo-Junior & Isabela Mina

Authors
  1. Persio Roxo-Junior
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Isabela Mina
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Persio Roxo-Junior .

Editor information

Editors and Affiliations

  1. Molecular Biology, Monash University Dept. Biochemistry &, Clayton, Victoria, Australia

    Ian MacKay

  2. Autoimmune Disease Research Center, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Noel R. Rose

Section Editor information

  1. Institute of Biomedical Sciences, University of São Paulo, São Paulo, São Paulo, Brasil

    Antonio Condino-Neto

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer Science+Business Media LLC

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Roxo-Junior, P., Mina, I. (2018). Barth Syndrome. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_156-1

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_156-1

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

  • eBook Packages: Springer Reference MedicineReference Module Medicine

Publish with us

Policies and ethics

Search

Navigation