Diaphragm Pacing without Tracheostomy in Congenital Central Hypoventilation Syndrome Patients

Abstract

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.

Diaphragm Dysfunction: Diagnostic Approaches and Management Strategies

“…The ideal candidates for phrenic nerve pacing are patients with upper level spinal cord injury that are still ventilator dependent at least three months after the initial injury: the beneficial effects of pacing were mostly demonstrated in this population, with the majority of patients being liberated from ventilatory support [171,172,173]. Successful cases have also been reported with patients with congenital hypoventilation [174,175,176] syndrome and other neurological diseases [177]. Some data originally suggested a possible benefit of phrenic nerve pacing in patients with ALS [178,179], but two recent, prospective randomized trials evaluating the effect of this intervention in this setting had to be prematurely stopped because of a decrease in survival in the treatment arms [180,181].…”

Haddad Syndrome with a Germ-Line Mutation in thePHOX2BGene in a Korean Neonate

“…Tracheostomy with positive pressure ventilation is the most common method for ventilation in infants with CCHS and is guaranteed to secure the airways and provide adequate ventilation 15) . However, consi dering the complications of long-term use of invasive ventilator care, non-invasive ventilation methods including BiPAP and diaphragmatic pacing have also been frequently attempted 16) . Long-term prognosis is variable, with mortality rates ranging from 10% to 40% 17) .…”

Et nyfødt barn med apneer

“…Nyere studier tyder på at ikke-invasiv respirasjonsstøtte kan vaere like effektivt og gi faerre komplikasjoner, men dette krever tett oppfølging, med blant annet polysomnografi, for å sikre at behandlingen er adekvat (26). Diafragmapacing for respirasjonskontroll er forsøkt både med og uten annen respirasjonsstøtte, men erfaringene er svaert begrensede (27,28).…”