Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome

André Diedrich*, Beth A. Malow, Nick A. Antic, Kyoko Sato, R. Doug McEvoy, Christopher J. Mathias, David Robertson, Elizabeth M. Berry-Kravis, Debra E. Weese-Mayer

*Corresponding author for this work

Research output: Contribution to journalArticle

22 Scopus citations

Abstract

Background: Children with Congenital Central Hypoventilation Syndrome (CCHS) typically present as newborns with alveolar hypoventilation. With the advent of genetic testing, parents of affected children and other unrelated adults, all heterozygous for the disease-defining PHOX2B polyalanine expansion mutation with the 20/25 genotype, are being identified in adulthood. Though children with PHOX2B mutation-confirmed CCHS demonstrate ANS dysregulation, including altered heart rate and blood pressure control, it is unknown if adults with CCHS have similarly affected autonomic function in blood pressure control. Methods and Results: An autonomic profile of blood pressure control has been studied with recording of muscle sympathetic activity and spectral analysis of heart rate and blood pressure variability of one adult patient with alveolar hypoventilation and the 20/25 PHOX2B genotype. All parameters of heart rate variability were reduced. Cardiac baroreflex sensitivity was decreased. Sympathetic responses to Valsalva maneuver, hypoxemia, isometric exercise and cold pressor were blunted. Conclusion: In summary, we found a reduced cardiac baroreflex and a blunted sympathetic mediated response in the individual with adult-onset CCHS, possibly due to dysfunction in the afferent pathway. Our results confirm that PHOX2B affects the development of the autonomic nervous system, possibly causing absence of normal maturation of carotid body and visceral sensory ganglia and leading to autonomic dysfunction in adult-onset CCHS.

Original languageEnglish (US)
Pages (from-to)177-185
Number of pages9
JournalClinical Autonomic Research
Volume17
Issue number3
DOIs
StatePublished - Jun 2007

Keywords

  • Autonomic nervous system
  • Baroreflex
  • Blood pressure variability
  • Congenital central hypoventilation syndrome
  • Heart rate variability
  • Muscle
  • PHOX2B
  • Sympathetic activity

ASJC Scopus subject areas

  • Endocrine and Autonomic Systems
  • Clinical Neurology

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