Barth syndrome

Last revised by Daniel J Bell on 2 Aug 2019

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:

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.

Echocardiography may reveal left ventricular dilatation, hypertrophy of left ventricle and endocardial fibroelastosis. Cardiomyopathy can develop in utero 6.

It was first described by P G Barth et al. 2-4  in the year 1983.

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