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:

• fetal cardiomyopathy: (dilated fetal cardiomyopathy (DCM) +/- endocardial fibroelastosis (EFE) +/- left ventricular non-compaction (LVNC)
• proximal myopathy
• feeding problems
• growth retardation: including intrauterine growth restriction
• neutropenia
• organic aciduria: 3-methylglutaconic aciduria
• variable respiratory chain abnormalities
• delayed bone age
• exercise intolerance
• skeletal muscle myopathy

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.

Siehe auch:

• endocardial fibroelastosis
• cardiomyopathy (fetal)
• intra uterine growth restriction
• 3-Methylglutaconazidurie Typ 1
• Costeff-Syndrom
• 3-Methylglutaconazidurie

und weiter:

• fetal cardiomyopathy