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

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.