Barth syndrome
| Barth Syndrome | |
|---|---|
| Other names | 3-Methylglutaconic aciduria type II, X-linked cardioskeletal myopathy and neutropenia, BTHS, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, Cardioskeletal myopathy-neutropenia syndrome |
| Cardiolipin | |
| Specialty | Endocrinology |
| Symptoms | Dilated cardiomyopathy, neutropenia, short stature, muscle weakness. |
| Complications | Heart failure, delayed motor skills, infections. |
| Usual onset | Infancy. |
| Causes | Genetic mutation. |
| Prognosis | Reduced life expectancy. |
| Frequency | 1-9 / 1 000 000 |
Barth syndrome (BTHS) is a rare but serious X-linked genetic disorder, caused by changes in phospholipid structure and metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and is potentially fatal. The syndrome is diagnosed almost exclusively in males.