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Association of Turner syndrome with hypoplastic left-heart syndrome
Insights
Hypoplastic left-heart syndrome (HLH) may be linked to Turner syndrome (45,X). Genetic evaluation, including cytogenetic analysis, is recommended for all HLH patients, especially females.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Hypoplastic left-heart syndrome (HLH) is a severe congenital heart defect.
- Turner syndrome (45,X) is a chromosomal condition affecting females.
- Previous reports suggest sporadic associations between HLH and Turner syndrome.
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.
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