Barth syndrome is a rare X-linked disorder characterized by dilated cardiomyopathy, myopathy and neutropenia. We describe a family with two affected males. One of them died during infancy from cardiomyopathy. The other, now adult, is less severe affected. The diagnosis was confirmed by the detection of a missense mutation in the responsible gene G4.5. In the case of two further boys, who died during the neonatal period, the same diagnosis may be said to apply retrospectively, based on available results. Discussion: Although the Barth syndrome gene was cloned in 1996, the function of its protein product is not yet known. Because of the variability of the clinical course even in one and the same family genetic counseling and considerations about prognosis and treatment are difficult.
|Number of pages||5|
|Journal||Monatsschrift fur Kinderheilkunde|
|Publication status||Published - Mar 2000|
- Barth syndrome
- X-linked cardiomyopathy
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health