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Barth syndrome

Dr Abhilash Sandhyala and Dr Yuranga Weerakkody et al.

The Barth syndrome (BTHS) is an extremely rare X-linked multi-system disorder that is usually diagnosed in infancy.

It characterized 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
neutropenia
organic aciduria : 3-methylglutaconic aciduria
variable respiratory chain abnormalities

Etymology

It was first described P G Barth et.al ^2-4

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References

Synonyms & Alternative Spellings

Synonyms or Alternative Spelling	Include in Listings?
Barth syndrome (BTHS)	✗
Barth's syndrome	✗
X-linked cardioskeletal myopathy	✓
3-methylglutaconic acid-uria type II	✓
Endocardial fibroelastosis type 2	✓