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

C G Steward1, R A Newbury-Ecob, R Hastings

  • 1Department of Paediatric Haematology, Oncology & BMT, Royal Hospital for Children, Upper Maudlin St, Bristol, UK. colin.steward@bristol.ac.uk

Prenatal Diagnosis
|September 3, 2010
PubMed

Insights

Barth Syndrome (BTHS) significantly impacts fetal and perinatal health, particularly in males, leading to increased stillbirths and neonatal deaths. Early diagnosis is crucial for managing this X-linked disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Cardiology

Background:

  • Barth Syndrome (BTHS) is an X-linked disorder affecting multiple systems, typically diagnosed in infancy.
  • Key features include cardiac issues (dilated cardiomyopathy, endocardial fibroelastosis, left ventricular non-compaction), myopathy, growth issues, neutropenia, and metabolic abnormalities.

Purpose of the Study:

  • To investigate the impact of Barth Syndrome on fetal and perinatal health.
  • To analyze a large cohort of family groups from a defined region.

Main Methods:

  • Retrospective case note review of 19 families linked to the Barth Syndrome Service at Bristol Royal Hospital for Children.
  • Genetic and biochemical confirmation of BTHS in affected individuals.

Main Results:

  • Six kindreds (32%) with confirmed BTHS showed a broader phenotype, including male fetal loss and stillbirth.
  • Nine males were stillborn, and 14 died neonatally or in infancy; no female losses were reported.
  • Five males presented with fetal onset of cardiac conditions (DCM, hydrops, EFE, LVNC).

Conclusions:

  • Barth Syndrome should be considered in cases of unexplained male hydrops, fetal loss, and severe neonatal conditions.
  • The findings highlight the critical role of BTHS in fetal and perinatal mortality and morbidity.
  • Early consideration of BTHS is vital for conditions like hypoglycemia, lactic acidosis, and mitochondrial disease in neonates.
Abstract

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