Barth-Syndrom

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.

Epidemiology

Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births.

Clinical presentation

It is characterized by:

Pathology

Genetics

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 .

Radiographic features

Echocardiography

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

History and etymology

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

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