Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature

Anesth Analg. 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470.

Abstract

Congenital central hypoventilation syndrome (CCHS) is a form of sleep-disordered breathing characterized by a diminished drive to breathe during sleep, despite progressive hypercapnia and hypoxia. The condition results from mutations in the paired-like homeobox 2B (PHOX2B) gene. The aim of this review was to conduct a systematic search of the current data on CCHS as it relates to perioperative considerations and to discuss the classification, prevalence, pathophysiology, presentation, genetics, and management of the condition. A systematic search of Medline, EMBASE, Cochrane Database of Systematic Reviews, and the Cochrane Central Register of Controlled Trials was done up to October 2015. The results were limited to human studies published in the English language. Study titles and abstracts were screened to identify studies relating to CCHS relevant to anesthetic care. All study designs including randomized controlled trials, observational studies, case reports, or case series were included. The searches yielded 165 articles, of which 45 were relevant to perioperative considerations. There were 15 relevant case reports categorized as pertaining to the following: (1) novel presentations of the condition after sedation/anesthesia; (2) anesthetic techniques used in patients with established CCHS; and (3) patients with CCHS who experienced anesthetic complications. Review of the case reports showed that patients ranged from neonates up to 59 years of age. Novel presentations of the disease after sedation or anesthesia for minor procedures often led to diagnosis. The sequelae of undiagnosed CCHS led to complications, such as hypoxia, desaturations, apneas, seizures, unplanned intensive care admissions, prolonged hospital stays, and long-term tracheostomies. There appeared to be few postoperative complications in patients with known CCHS. Anesthesiologists need to be aware of undiagnosed late-onset CCHS and include this condition in the differential diagnosis of patients with unexplained postoperative respiratory depression. Anesthetic techniques should minimize the use of agents that further depress respiration postprocedure and ensure adequate monitoring to detect postoperative apneas.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Adolescent
  • Adult
  • Anesthesia / adverse effects
  • Anesthesia / methods*
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Homeodomain Proteins / genetics
  • Humans
  • Hypoventilation / congenital*
  • Hypoventilation / diagnosis
  • Hypoventilation / epidemiology
  • Hypoventilation / genetics
  • Hypoventilation / physiopathology
  • Infant
  • Infant, Newborn
  • Lung / physiopathology*
  • Male
  • Middle Aged
  • Mutation
  • Patient Selection
  • Phenotype
  • Prevalence
  • Prognosis
  • Respiration*
  • Respiratory Function Tests
  • Risk Assessment
  • Risk Factors
  • Sleep Apnea, Central / diagnosis
  • Sleep Apnea, Central / epidemiology
  • Sleep Apnea, Central / genetics
  • Sleep Apnea, Central / physiopathology*
  • Transcription Factors / genetics
  • Young Adult

Substances

  • Homeodomain Proteins
  • NBPhox protein
  • Transcription Factors

Supplementary concepts

  • Congenital central hypoventilation syndrome