Barth syndrome (BTHS), also known as 3-methylglutaconic aciduria type II, is an extremely rare X-linked multisystem disorder that is usually diagnosed in infancy.
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Epidemiology
Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births.
Clinical presentation
It is characterised by:
fetal cardiomyopathy: (dilated fetal cardiomyopathy (DCM) +/- endocardial fibroelastosis (EFE) +/- left ventricular non-compaction (LVNC)
feeding problems
growth restriction/delay: including intrauterine growth restriction
neutropenia
organic aciduria: 3-methylglutaconic aciduria
variable respiratory chain abnormalities
exercise intolerance
skeletal muscle myopathy
Pathology
Genetics
Barth syndrome is caused by a mutated tafazzin (TAZ) gene (chromosome Xq28) which encodes an acyltransferase responsible for remodelling of cardiolipin in mitochondrial membranes, especially affecting cardiac myocytes, neutrophils and skeletal muscles. The inheritance pattern is X-linked recessive type 6.
Radiographic features
Echocardiography
Echocardiography may reveal left ventricular dilatation, hypertrophy of left ventricle and endocardial fibroelastosis. Cardiomyopathy can develop in utero 6.
History and etymology
It was first described by P G Barth et al. 2-4 in 1983.