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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.
Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births.
It is characterized by:
- fetal cardiomyopathy: (dilated fetal cardiomyopathy (DCM) +/- endocardial fibroelastosis (EFE) +/- left ventricular non-compaction (LVNC)
- proximal myopathy
- feeding problems
- growth retardation: including intrauterine growth restriction
- organic aciduria: 3-methylglutaconic aciduria
- variable respiratory chain abnormalities
- delayed bone age
- exercise intolerance
- skeletal muscle myopathy
Barth syndrome is caused by a mutated tafazzin (TAZ) gene (chromosome Xq28) which encodes an acyltransferase responsible for remodeling of cardiolipin in mitochondrial membranes, especially affecting cardiac myocytes, neutrophils and skeletal muscles. The inheritance pattern is X-linked recessive type 6.
History and etymology
It was first described by P G Barth et al. 2-4 in the year 1983.