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.
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- 2. Barth PG, Valianpour F, Bowen VM et-al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am. J. Med. Genet. A. 2004;126A (4): 349-54. doi:10.1002/ajmg.a.20660 - Pubmed citation
- 3. Valianpour F, Wanders RJ, Overmars H et-al. Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J. Pediatr. 2002;141 (5): 729-33. doi:10.1067/mpd.2002.129174 - Pubmed citation
- 4. Barth PG, Wanders RJ, Vreken P. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. J. Pediatr. 1999;135 (3): 273-6. J. Pediatr. (link) - Pubmed citation
- 5. Clarke SL, Bowron A, Gonzalez IL et-al. Barth syndrome. Orphanet J Rare Dis.8 (1): 23. doi:10.1186/1750-1172-8-23 - Free text at pubmed - Pubmed citation
- 6. Wong LC. Mitochondrial Disorders Caused by Nuclear Genes. Springer. (2012) ISBN:1461437229. Read it at Google Books - Find it at Amazon