Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease

J Pediatr. 2016 Nov:178:141-148.e1. doi: 10.1016/j.jpeds.2016.07.041. Epub 2016 Aug 26.

Abstract

Objective: To test for associations between abnormal respiratory ciliary motion (CM) and brain abnormalities in infants with congenital heart disease (CHD) STUDY DESIGN: We recruited 35 infants with CHD preoperatively and performed nasal tissue biopsy to assess respiratory CM by videomicroscopy. Cranial ultrasound scan and brain magnetic resonance imaging were obtained pre- and/or postoperatively and systematically reviewed for brain abnormalities. Segmentation was used to quantitate cerebrospinal fluid and regional brain volumes. Perinatal and perioperative clinical variables were collected.

Results: A total of 10 (28.5%) patients with CHD had abnormal CM. Abnormal CM was not associated with brain injury but was correlated with increased extraaxial cerebrospinal fluid volume (P < .001), delayed brain maturation (P < .05), and a spectrum of subtle dysplasia including the hippocampus (P < .0078) and olfactory bulb (P < .034). Abnormal CM was associated with higher composite dysplasia score (P < .001), and both were correlated with elevated preoperative serum lactate (P < .001).

Conclusions: Abnormal respiratory CM in infants with CHD is associated with a spectrum of brain dysplasia. These findings suggest that ciliary defects may play a role in brain dysplasia in patients with CHD and have the potential to prognosticate neurodevelopmental risks.

Keywords: choroid plexus; extraaxial CSF; hippocampus; motile cilia; olfactory.

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology*
  • Brain Diseases / complications
  • Brain Diseases / epidemiology*
  • Ciliary Motility Disorders / complications*
  • Female
  • Heart Defects, Congenital / complications*
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Prospective Studies