Barth syndrome

Barth syndrome is a rare X-linked disorder caused by tafazzin deficiency. It can cause cardiomyopathy, skeletal muscle weakness, neutropenia, and growth delay.

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TAZ gene: TAZ is an X-chromosome gene that encodes tafazzin, an enzyme involved in cardiolipin remodeling. Pathogenic variants in this gene cause Barth syndrome by reducing functional tafazzin.
Dilated cardiomyopathy: Dilated cardiomyopathy is enlargement and weakened contraction of one or both heart ventricles. It is a common cardiac presentation of Barth syndrome, particularly in childhood.
X-linked recessive inheritance: X-linked recessive inheritance describes conditions caused by variants on the X chromosome that usually affect males more severely. It explains the strong male predominance and how TAZ variants pass through families.
Peter Barth: Peter Barth is the physician who described the syndrome in a Dutch family in 1983. His clinical report established the disorder as a distinct inherited condition.
Natural history study: A natural history study tracks how a disease develops over time without testing an assigned intervention. Longitudinal data can clarify how heart, muscle, and blood-cell findings change with age.
Tafazzin: Tafazzin is a mitochondrial enzyme that remodels cardiolipin, a lipid of the inner mitochondrial membrane. Its deficiency is the direct biochemical defect in Barth syndrome.
Neutropenia: Neutropenia is an abnormally low number of neutrophils, a type of white blood cell that helps fight infection. It contributes to infection risk and may fluctuate over time in Barth syndrome.
Mitochondrion: A mitochondrion is a cell organelle that produces much of the energy used by the cell. Barth syndrome affects a lipid of the mitochondrial inner membrane.
Barth Syndrome Foundation: The Barth Syndrome Foundation is a nonprofit organization supporting research, education, and families affected by Barth syndrome. It connects affected families with information and advances disease research.
Gene therapy: Gene therapy aims to treat disease by introducing, modifying, or regulating genetic material in cells. Correcting TAZ function is a research direction, not an established treatment for Barth syndrome.