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