Jul 12, 2013

Barth syndrome

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
John L Jefferies

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 a...Continue Reading

  • References46
  • Citations40

Mentioned in this Paper

Septicemia
ATRN gene
Morbidity Aspects
Neutropenia
Xq28
TAZ Gene (Procedure)
Mental Retardation, X-Linked
Isolated Noncompaction of the Ventricular Myocardium
Myopathy
Fetal Growth Retardation

Related Feeds

Atrial Fibrillation

Atrial fibrillation is a common arrhythmia that is associated with substantial morbidity and mortality, particularly due to stroke and thromboembolism. Here is the latest research.

Arrhythmia

Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.

Related Papers

British Journal of Haematology
Andranik A Aprikyan, Zaza Khuchua
Molecular Genetics and Metabolism
Laure CossonFrançois Labarthe
Blood Cells, Molecules & Diseases
Theodora BachouAntonis Kattamis
Current Opinion in Pediatrics
Anthony C McCantaKeith Weiner
© 2020 Meta ULC. All rights reserved