Barth syndrome (BTHS), also referred to as 3-methylglutaconic aciduria type II is an extremely rare X-linked multi-system disorder that is usually diagnosed in infancy.
It is characterised by:
- fetal cardiomyopathy: (dilated fetal cardiomyopathy (DCM) +/- endocardial fibroelastosis (EFE) +/- left ventricular non-compaction (LVNC)
- proximal myopathy
- feeding problems
- growth retardation: including intra uterine growth restriction
- organic aciduria: 3-methylglutaconic aciduria
- variable respiratory chain abnormalities
- delayed bone age
- exercise intolerance
- skeletal muscle myopathy
BTHS has an estimated prevalence of 1 in 300,000-400,000 live births.
BTHS is caused by a tafazzin gene 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.
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 the year 1983.
- 1. Steward CG, Newbury-ecob RA, Hastings R et-al. Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat. Diagn. 2010;30 (10): 970-6. doi:10.1002/pd.2599 - Free text at pubmed - Pubmed citation
- 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