Barth syndrome
Abstract
Barth syndrome is an X-linked recessive disease characterized by cardiomyopathy, skeletal myopathy, growth retardation, neutro-penia, and 3-methylglutaconic aciduria. The Barth syndrome was first described as a mitochondrial disease leading to neutropenia and skeletal and cardiac myopathy. A deeper insight into the pathogenesis of the disease is associated with the development of its main genetic mechanisms. Mutations in the TAZ gene (Xq28) give rise to a loss of its function and to abnormalities in the cardiolipin structure and are responsible for the phenotype of Barth syndrome. Patients are susceptible to life-threatening bacterial infection and sepsis due to neutropenia; evolving heart failure is caused by cardiomyopathy, non-compact myocardium syndrome. Patient management tactics have recently undergone changes, resulting in longer survival.
About the Authors
I. V. Leontyeva
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
Yu. M. Belozerov
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
E. A. Nikolaeva
Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, Moscow
Russian Federation
Russian Federation
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Review
For citations:
Leontyeva I.V., Belozerov Yu.M., Nikolaeva E.A. Barth syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2015;60(5):33-41. (In Russ.)
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