Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.

ABSTRACT:

Objective

Barth Syndrome (BTHS) is an X-linked multisystem disorder (OMIM 302060) usually diagnosed in infancy and characterized by cardiac problems [dilated cardiomyopathy (DCM) ± endocardial fibroelastosis (EFE) ± left ventricular non-compaction (LVNC)], proximal myopathy, feeding problems, growth retardation, neutropenia, organic aciduria and variable respiratory chain abnormalities. We wished to determine whether BTHS had a significant impact on fetal and perinatal health in a large cohort of family groups originating from a defined region.

Method

Case note review on 19 families originating from the UK and known to the Barth Syndrome Service of the Bristol Royal Hospital for Children.

Results

Details are presented on six kindreds (32%) with genetically and biochem

SUBMITTER: Steward CG 

PROVIDER: S-EPMC2995309 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature