February 1987

Association of Turner Syndrome With Hypoplastic Left-Heart Syndrome

Author Affiliations

From the Divisions of Genetics (Drs Natowicz and Kelley) and Metabolism (Dr Kelley), The Children's Hospital of Philadelphia, and the Department of Pathology and Laboratory Medicine (Dr Natowicz), Hospital of the University of Pennsylvania, Philadelphia.

Am J Dis Child. 1987;141(2):218-220. doi:10.1001/archpedi.1987.04460020108041

• 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.

(AJDC 1987;141:218-220)