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

Congenit Heart Dis. 2017 Jan;12(1):105-112. doi: 10.1111/chd.12413. Epub 2016 Sep 29.

Abstract

Background: Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population.

Methods: The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999-2007. We used Kaplan-Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS-).

Results: Of the 542 patients with HLHS, 11 had TS (2.0%), 71 had other extracardiac birth defects or genetic disorders, and 463 had neither. The median follow-up time was 4.2 y (interquartile range [IQR] 2.1-6.5). Comparing those with HLHS/TS+ to HLHS/TS-, 100% versus 35% were female (P < .001), and median birth weight was 2140 g (IQR 1809-2650) versus 3196 g (IQR 2807-3540, P < .001). Neonatal mortality was 36% in HLHS/TS+ versus 27% in HLHS/TS- (log rank = 0.431). Ten of the 11 TS+ patients died during the study period for cumulative mortality of 91% versus 50% (hazard ratio (HR) for TS+: 2.90, 95% CI 1.53-5.48). Six patients died prior to surgery, 5 underwent Stage 1 palliation (S1P), 3 died after S1P, 2 survived past S2P, and one of these died at age 19 mo. The underlying cause of death was listed as congenital heart disease on all the death certificates of HLHS/TS+ patients. In multivariable analysis controlling for low birth weight (<2500 g), TS remained associated with significantly increased cumulative mortality, although females without TS had higher mortality than males (HR for TS+ versus males: 2.42, 95% CI 1.24-4.73; HR for TS- females versus males: 1.41, 95% CI 1.08-1.83).

Conclusion: TS with HLHS is associated with significant mortality. The increased mortality in females without documented TS calls to question if TS is undetected in a portion of females with HLHS.

Keywords: Turner syndrome; female; gender; hypoplastic left heart syndrome; population; sex.

Publication types

  • Comparative Study

MeSH terms

  • Adolescent
  • Cardiac Surgical Procedures
  • Cause of Death
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Hypoplastic Left Heart Syndrome / diagnosis
  • Hypoplastic Left Heart Syndrome / mortality*
  • Hypoplastic Left Heart Syndrome / surgery
  • Infant
  • Infant, Newborn
  • Kaplan-Meier Estimate
  • Male
  • Proportional Hazards Models
  • Registries
  • Retrospective Studies
  • Risk Factors
  • Sex Factors
  • Texas / epidemiology
  • Time Factors
  • Treatment Outcome
  • Turner Syndrome / diagnosis
  • Turner Syndrome / mortality*