Diaphragm Pacing without Tracheostomy in Congenital Central Hypoventilation Syndrome Patients

Respiration. 2015;89(6):534-8. doi: 10.1159/000381401. Epub 2015 Apr 25.


Background: Congenital central hypoventilation syndrome (CCHS) is a rare disorder affecting central control of breathing. Thus, patients require lifelong assisted ventilation. Diaphragm pacing (DP) may permit decannulation in those who are ventilator dependent only during sleep.

Objective: The purpose of this study is to determine if patients with CCHS can be successfully ventilated by DP without tracheostomy.

Methods: We reviewed the records of 18 CCHS patients (mean age 19.5 ± 10.1 years; 44% female) who were ventilated by DP only during sleep.

Results: Prior to diaphragm pacer implantation surgery, 14 CCHS patients had been using home portable positive pressure ventilation (PPV) via tracheostomy, 1 had been on PPV via endotracheal tube, and 3 had been using noninvasive PPV (NPPV). Of the patients with tracheostomy prior to DP (n = 15), 11 (73%) were decannulated and ventilated successfully by DP without tracheostomy. Of all the patients reviewed (n = 18), 13 (72%) were successfully ventilated by DP without tracheostomy. Obesity prevented successful DP without tracheostomy in 1 patient, and upper airway obstruction prevented success in another patient. Snoring and/or obstructive apneas were present in some patients, but they were improved by diaphragm pacer changes, adenotonsillectomy, and/or use of nasal steroids.

Conclusions: DP without tracheostomy can be successfully achieved in patients with CCHS. Snoring and obstructive apneas, when present, can be managed by diaphragm pacer changes and medical therapies. Obesity can pose a challenge to successful DP.

Publication types

  • Clinical Study

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cohort Studies
  • Diaphragm*
  • Electric Stimulation Therapy / methods*
  • Female
  • Humans
  • Hypoventilation / complications
  • Hypoventilation / congenital*
  • Hypoventilation / therapy
  • Male
  • Noninvasive Ventilation
  • Obesity / complications
  • Positive-Pressure Respiration
  • Retrospective Studies
  • Sleep Apnea, Central / complications
  • Sleep Apnea, Central / therapy*
  • Sleep Apnea, Obstructive / complications
  • Tracheostomy
  • Treatment Outcome
  • Young Adult

Supplementary concepts

  • Congenital central hypoventilation syndrome