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

A. Panigrahy, V. Lee, R. Ceschin, G. Zuccoli, N. Beluk, O. Khalifa, J. K. Votava-Smith, M. DeBrunner, R. Munoz, Y. Domnina, V. Morell, P. Wearden, J. Sanchez De Toledo, W. Devine, M. Zahid, and C. W. Lo, “Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease.,” J. Pediatr., Aug. 2016. PMID: 2757499 PMCID: PMC5085835 [Available on 2017-11-01] DOI: 10.1016/j.jpeds.2016.07.041

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.

Publication Year: 
2016
Faculty Author: 
Publication Credits: 
A. Panigrahy, V. Lee, R. Ceschin, G. Zuccoli, N. Beluk, O. Khalifa, J. K. Votava-Smith, M. DeBrunner, R. Munoz, Y. Domnina, V. Morell, P. Wearden, J. Sanchez De Toledo, W. Devine, M. Zahid, and C. W. Lo
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