Cerebral Autoregulation during Orthostatic Challenge in Congenital Central Hypoventilation Syndrome

Eric Long Vu*, Emma C. Dunne, Allison Bradley, Amy Zhou, Michael S. Carroll, Casey M. Rand, Kenneth M. Brady, Tracey M. Stewart, Debra E. Weese-Mayer

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Rationale: Congenital central hypoventilation syndrome (CCHS) is a rare autonomic disorder with altered regulation of breathing, heart rate (HR), and blood pressure (BP). Aberrant cerebral oxygenation in response to hypercapnia/hypoxia in CCHS raises the concern that altered cerebral autoregulation may contribute to CCHS-related, variably impaired neurodevelopment. Objectives: To evaluate cerebral autoregulation in response to orthostatic challenge in CCHS cases versus controls. Methods: CCHS and age- and sex-matched control subjects were studied with head-up tilt (HUT) testing to induce orthostatic stress. Fifty CCHS and 100 control HUT recordings were included. HR, BP, and cerebral oxygen saturation (regional oxygen saturation) were continuously monitored. The cerebral oximetry index (COx), a real-time measure of cerebral autoregulation based on these measures, was calculated. Measurements and Main Results: HUT resulted in a greater mean BP decrease from baseline in CCHS versus controls (11% vs. 6%; P, 0.05) and a diminished increase in HR in CCHS versus controls (11% vs. 18%; P, 0.01) in the 5 minutes after tilt-up. Despite a similar COx at baseline, orthostatic provocation within 5 minutes of tilt-up caused a 50% greater increase in COx (P, 0.01) and a 29% increase in minutes of impaired autoregulation (P, 0.02) in CCHS versus controls (4.0 vs. 3.1 min). Conclusions: Cerebral autoregulatory mechanisms appear to be intact in CCHS, but the greater hypotension observed in CCHS consequent to orthostatic provocation is associated with greater values of COx/impaired autoregulation when BP is below the lower limits of autoregulation. Effects of repeated orthostatic challenges in everyday living in CCHS necessitate further study to determine their influence on neurodevelopmental disease burden.

Original languageEnglish (US)
Pages (from-to)340-349
Number of pages10
JournalAmerican journal of respiratory and critical care medicine
Issue number3
StatePublished - Feb 1 2022


  • Autonomic dysregulation
  • CCHS
  • Control of breathing
  • Neurocristopathy
  • Orthostatic challenge

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine


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