The Spectrum of Congenital Heart Disease and Outcomes After Surgical Repair Among Children With Turner Syndrome: A Single-Center Review

Abstract

Turner syndrome (TS), a genetic abnormality affecting 1 in 2,500 people, is commonly associated with congenital heart disease (CHD). However, the surgical outcomes for TS patients have not been well described. This study reviewed the spectrum of CHD in TS at the authors' center. The authors report outcomes after coarctation of the aorta (CoA) repair or staged palliation of hypoplastic left heart syndrome (HLHS) and then compare the surgical outcomes with those of non-TS patients undergoing like repair. This retrospective chart review was conducted at the Children's Hospital of Wisconsin from 1999 to 2011. Of the 173 patients with TS, 77 (44.5 %) were found to have CHD. Left-sided obstructive lesions were the most common. However, the spectrum of CHD was wide and included systemic and pulmonary venous abnormalities as well as abnormalities of the coronary arteries. In the comparative analysis of CoA repair, the TS patients younger than 60 days had longer aortic cross-clamp times (24 vs. 16 min; p = 0.001) and longer hospital stays (12 vs. 6 days; p ≤ 0.0001) than the non-TS patients. At the follow-up assessment after 8.8 ± 9.1 years, 17 % of the TS patients had hypertension, but no patient had required reintervention, and no deaths had occurred. Finally, three of the four TS patients with HLHS died within the first year. The spectrum of CHD within TS is wide and not limited to bicuspid aortic valve or CoA. Additionally, patients with TS undergoing CoA repair may have a more challenging early postoperative course but experience outcomes similar to those of non-TS patients. Finally, patients who have TS combined with HLHS remain a challenging population with generally poor survival.

Cardiovascular imaging in Turner syndrome: state-of-the-art practice across the lifespan

“…Only lesions with an estimated prevalence above 1% are listed. Few studies have looked into the prevalence of hypoplastic left heart syndrome (or Shone complex) in TS; one study reported hypoplastic left heart syndrome in 3.5% of 173 consecutive girls with TS12 and the estimated prevalence of TS in hypoplastic left heart syndrome ranges from 1% to 7% 11…”

Chromosomal abnormalities and copy number variations in fetal left‐sided congenital heart defects

“…In children with HLHS it has been described that 5–12% of cases are associated with chromosomal or syndromic abnormalities, including Turner syndrome (monosomy X), 22q11.2 microdeletion syndrome and Jacobsen syndrome (11q deletion). Providing information about the association of CHDs with these syndromes is important when counselling future parents, given the influence of genetic conditions on surgical success and long‐term outcome . Most syndromes are detectable after birth and/or display multiple malformations.…”

A sudden turner of events

“…In a cohort of 24 patients, only one required reintervention in the first 30 days after surgery. During an 8.8 years follow‐up, none had significant aortic dilatation, rupture or aneurysm dissection . No deaths were reported …”

“…Zanjani et al demonstrated that the risk of AWI and mortality were higher after surgery. Nevertheless, Cramer et al reported more favorable outcomes. In a cohort of 24 patients, only one required reintervention in the first 30 days after surgery.…”