• 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.
Natowicz M, Kelley RI. Association of Turner Syndrome With Hypoplastic Left-Heart Syndrome. Am J Dis Child. 1987;141(2):218-220. doi:10.1001/archpedi.1987.04460020108041