Hypoplastic left heart in a patient with 45,X/46,XX/47,XXX mosaicism

Abstract

Recurrence risks for primary congenital heart lesions are well defined. An infant with hypoplastic left heart syndrome is observed to have a short neck with a full skin fold on the right side, unilateral single palmar crease, and whorls on all ten fingers. She was found to have the Ullrich-Turner syndrome with mosaicism 45,X/46,XX/47,XXX. We believe the cardiac malformation was secondary to her aneuploidy. This could have important implications for prediction of recurrence risks to the parents. Chromosomal tests may be indicated for infants were severe congenital cardiac lesions, based on subtle clinical findings.

46, X, i(Xq) karyotype in a patient with hypoplastic left heart

“…Cbanding of the i(Xq) chromosome showed a single C-band. Although rare, cases of HLH have been reported in association with Turner syndrome (Bidot-Lopez et al 1978, Lintermans 1970. To our knowledge, our Patient 1 is the first report of HLH in a patient with a 46,X,i(Xq) karyotype.…”

“…Hypoplastic left heart (HLH) is an uncommon congenital malformation comprising less than 1% of all congenital heart malformations (Bidot-Lopez et al 1978). There have been few reports suggesting a genetic component to its etiology (Shokeir 1971, Holmes et al 1974, Brownell & Shokeir 1976, Bidot-Lopez et al 1978, Lintermans 1970. The occurrence of five cases in a 20-month period (July, 1982to February, 1985, many times the expected incidence in this area, aroused our interest in causative factors.…”

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9

“…In a recent study of 21 patients with HLH, two had chromosomal abnormalities (one trisomy 18 and one trisomy 13) [Tennstedt et al, 1999]. HLH has been described with the 22q11.2 deletion [Wilson et al, 1993; Consevage et al, 1996], in a patient with an unbalanced X;16 translocation with 16q trisomy and Xp monosomy [Bacino et al, 1999], with monosomy 11q [Hustinx et al, 1993], in a patient with 46,X,i(Xq) [Shah et al, 1985], in a patient with 45,X/46,XX/47,XXX mosaicism [Bidot‐Lopez et al, 1978], in patients with Rubinstein–Taybi syndrome resulting from 16p13.3 deletions [Bartsch et al, 1999], in patients with trisomy 16q and monosomy 4p [Schinzel, 1983], and in a patient with duplication 12p [Qazi et al, 1981; Schinzel, 1983].…”

A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry

“…There were isolated early reports in the 1960s and 1970s of an association between TS and hypoplastic left heart syndrome (HLHS), the most severe form of left‐sided CHD, but it was not until the mid‐1980s that it became widely accepted that a small but significant percentage of individuals with TS also have HLHS . Estimates of the prevalence of TS in live‐born infants with HLHS range from 1 to 7% .…”