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Growth Trajectory in Children with Trisomy 21 with and without Atrioventricular Septal Defect

Chad A Mackman1, Rohit S Loomba1, Julie Slicker1

  • 1Pediatric Cardiology, Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, Wis, USA.

Congenital Heart Disease
|May 31, 2016
PubMed

Insights

Infants with Trisomy 21 and atrioventricular septal defects show temporary weight differences. While statistically significant, these differences were not clinically relevant and did not impact weight at two years. Repair timing did not affect outcomes.

Area of Science:

  • Pediatrics
  • Cardiology
  • Genetics

Background:

  • Trisomy 21 (Down syndrome) is linked to poor weight gain and congenital heart defects, particularly atrioventricular septal defects (AVSDs).
  • The specific impact of AVSDs on weight gain in Trisomy 21 patients in the current medical era is not well-documented.

Purpose of the Study:

  • To investigate the association between atrioventricular septal defects and weight gain in infants with Trisomy 21.
  • To determine if AVSDs independently affect weight for age in this population.
  • To evaluate the effect of surgical repair timing for AVSDs on weight outcomes.

Main Methods:

  • Retrospective cohort study comparing Trisomy 21 patients with and without AVSDs.
  • Analysis of weight for age z-scores at various time points using univariate and multivariate regression.
  • Assessment of the impact of AVSD repair timing (before vs. after 150 days of life).

Main Results:

  • A cohort of 86 Trisomy 21 patients was analyzed (42 with AVSDs).
  • Statistically significant differences in weight for age z-scores were observed at 2 and 6 months of age in patients with AVSDs.
  • AVSDs were identified as an independent risk factor for weight differences, though these were not deemed clinically relevant at 2 years. Nutritional support, like gastrostomy tubes, was more common in the AVSD group.
  • Timing of AVSD repair did not significantly alter weight outcomes at midterm follow-up.

Conclusions:

  • While a statistically significant difference in weight exists between Trisomy 21 patients with and without AVSDs, it is not clinically significant at the 2-year mark.
  • Patients with AVSDs often require increased nutritional interventions.
  • The timing of surgical repair for AVSDs does not appear to influence midterm weight outcomes.
Abstract

Keywords:
Atrioventricular CanalAtrioventricular Septal DefectDown SyndromeGrowthTrisomy 21

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