Association of Turner syndrome with hypoplastic left-heart syndrome

Am J Dis Child. 1987 Feb;141(2):218-20. doi: 10.1001/archpedi.1987.04460020108041.

Abstract

Three cases of hypoplastic left-heart syndrome (HLH) associated with Turner syndrome (45,X) were seen during an 11-year interval. Several isolated case reports are present in the literature. This association is probably not fortuitous but, rather, may represent the most extreme form of a spectrum of left-sided heart anomalies seen in patients with Turner syndrome. The association of Turner syndrome with HLH, as well as other known genetic etiologies of HLH, underscores the need for a detailed genetic evaluation in all patients with HLH and argues for cytogenetic analysis for even nondysmorphic females with HLH.

Publication types

  • Case Reports

MeSH terms

  • Aorta / abnormalities
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Syndrome
  • Turner Syndrome / genetics*