PMID: 3812392Feb 1, 1987Paper

Association of Turner syndrome with hypoplastic left-heart syndrome

American Journal of Diseases of Children
M Natowicz, R I Kelley

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.

Citations

May 15, 2007·Orphanet Journal of Rare Diseases·Jean Anne Connor, Ravi Thiagarajan
Oct 1, 1991·American Journal of Obstetrics and Gynecology·G M JacksonA W Cohen
Nov 1, 1995·The Journal of Pediatrics·M A Lovell, N L McDaniel
Jul 17, 2015·Journal of Pediatric Endocrinology & Metabolism : JPEM·Petrit HoxhaLuljeta Çakërri
Nov 20, 1998·American Journal of Obstetrics and Gynecology·P M ReisC J van de Ven

Related Concepts

Ascending Aorta Structure
Congenital Heart Defects
Gonadal Dysgenesis,45, X

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