title: 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.
  
  
  METHODS
  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 biochemically proven BTHS that demonstrate a wider phenotype including male fetal loss, stillbirth and severe neonatal illness or death. In these families, 9 males were stillborn and 14 died as neonates or infants but there were no losses of females. BTHS was definitively proven in five males with fetal onset of DCM ± hydrops/EFE/LVNC.
  
  
  CONCLUSIONS
  These findings stress the importance of considering BTHS in the differential diagnosis of unexplained male hydrops, DCM, EFE, LVNC or pregnancy loss, as well as in neonates with hypoglycemia, lactic acidosis and idiopathic mitochondrial disease.
authors.affiliation: Department of Paediatric Haematology, Oncology & BMT, Royal Hospital for Children, Upper Maudlin St, Bristol, UK. colin.steward@bristol.ac.uk
authors.forename: C G
authors.initials: CG
authors.lastname: Steward
authors.forename: R A
authors.initials: RA
authors.lastname: Newbury-Ecob
authors.forename: R
authors.initials: R
authors.lastname: Hastings
authors.forename: S F
authors.initials: SF
authors.lastname: Smithson
authors.forename: B
authors.initials: B
authors.lastname: Tsai-Goodman
authors.forename: O W
authors.initials: OW
authors.lastname: Quarrell
authors.forename: W
authors.initials: W
authors.lastname: Kulik
authors.forename: R
authors.initials: R
authors.lastname: Wanders
authors.forename: M
authors.initials: M
authors.lastname: Pennock
authors.forename: M
authors.initials: M
authors.lastname: Williams
authors.forename: J L
authors.initials: JL
authors.lastname: Cresswell
authors.forename: I L
authors.initials: IL
authors.lastname: Gonzalez
authors.forename: P
authors.initials: P
authors.lastname: Brennan
mesh_terms: D000217:Acyltransferases; D056889:Barth Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D015415:Biomarkers / Q000097:blood; D002308:Cardiolipins / Q000097:blood; D002311:Cardiomyopathy, Dilated / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics*; D015331:Cohort Studies; D004695:Endocardial Fibroelastosis / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D005260:Female; D005313:Fetal Death / Q000453:epidemiology / Q000235:genetics*; D005315:Fetal Diseases / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D008246:Lysophospholipids / Q000097:blood; D008297:Male; D010375:Pedigree; D017422:Sequence Analysis, DNA; D012737:Sex Factors; D050497:Stillbirth / Q000453:epidemiology / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D015415:Biomarkers; D002308:Cardiolipins; D008246:Lysophospholipids; D014157:Transcription Factors; C067188:monolysocardiolipin; D000217:Acyltransferases; C108675:TAFAZZIN protein, human
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