Barth syndrome

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Abstract

Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst BTHS patients with some exhibiting some or all of these findings. BTHS was first described as a disease of the mitochondria resulting in neutropenia as well as skeletal and cardiac myopathies. Over the past few years, a greater understanding of BTHS has developed related to the underlying genetic mechanisms responsible for the disease. Mutations in the TAZ gene on chromosome Xq28, also known as G4.5, are responsible for the BTHS phenotype resulting in a loss-of-function in the protein product tafazzin. Clinical management of BTHS has also seen improvement. Patients with neutropenia are susceptible to life-threatening bacterial infections with sepsis being a significant concern for possible morbidity and mortality. Increasingly, BTHS patients are suffering from heart failure secondary to their CMP. Left ventricular noncompaction (LVNC) and dilated CMP are the most common cardiac phenotypes reported and can lead to symptoms of heart failure as well as ventricular arrhythmias. Expanded treatment options for end-stage myocardial dysfunction now offer an opportunity to change the natural history for these patients. Herein, we will provide a current review of the genetic and molecular basis of BTHS, the clinical features and management of BTHS, and potential future directions for therapeutic strategies.

Original languageEnglish (US)
Pages (from-to)198-205
Number of pages8
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume163
Issue number3
DOIs
StatePublished - Aug 1 2013

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Barth Syndrome
Neutropenia
Muscular Diseases
Phenotype
Cardiomyopathies
Heart Failure
Dilated Cardiomyopathy
Natural History
Bacterial Infections
Cardiac Arrhythmias
Molecular Biology
Sepsis
Mitochondria

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Barth syndrome. / Jefferies, John L.

In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 163, No. 3, 01.08.2013, p. 198-205.

Research output: Contribution to journalArticle

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