Summary
Barth syndrome is a metabolic disorder characterized by a cardiomyopathy of the dilated type, more rarely of the hypertrophic type, neutropenia, skeletal myopathy, diminished statural growth and 3-methylglutaconicaciduria. However the clinical presentation can be of variable expression. The disease can be slowly progressive or sudden. In most cases, Barth syndrome is manifest in infancy. The most common initial presentation is cardiac failure. Barth syndrome seems to be very rare, however it seems to occur in all ethnic groups. After clinical and biochemical characterization of Barth syndrome, the causative gene was mapped to Xq28 by positional cloning and the G4,5 gene (also called TAZ - tafazzin - gene) was identified by mutational analysis. More than 20 mutations have been identified. Treatment is essentially supportive and should be multidisciplinary, that is patients should be followed-up by both cardiologists and hematologists. *Authors: Drs P. De Lonlay and D. Schlemmer (October 2005)*.
