For a patient with congenital central hypoventilation, should we use BiPAP (Bilevel Positive Airway Pressure) or a diaphragmatic pacemaker for ventilation support?

Ventilation Strategy for Congenital Central Hypoventilation Syndrome

For infants and young children with CCHS, positive pressure ventilation via tracheostomy is the recommended initial approach, with consideration for transitioning to BiPAP or diaphragmatic pacing only after 6-8 years of age in carefully selected patients. 1

Initial Management: Infancy Through Early Childhood

Primary Recommendation: Tracheostomy with Positive Pressure Ventilation

• Positive pressure ventilation via tracheostomy should be the standard of care for the first several years of life to ensure optimal oxygenation, ventilation, and neurocognitive outcomes from the first days of life. 1

• This approach is the most reliable and effective method for providing life support in CCHS patients, as it guarantees adequate breath delivery regardless of the patient's ability to trigger the ventilator. 1

• Portable positive pressure ventilators with battery capability are relatively portable and represent the most common method of providing home mechanical ventilation in CCHS. 1

Why Not BiPAP Initially?

• BiPAP devices are not designed for life support and should be avoided in infants and young children with CCHS. 1

• BiPAP use from infancy or early childhood has been associated with mid-face hypoplasia when masks compress the malleable mid-face, requiring close monitoring by pediatric plastic surgeons and orthodontists. 1

• BiPAP is most effective only in older children and adults with milder CCHS phenotypes who require ventilatory support exclusively during sleep. 1

• Noninvasive ventilation is not a consideration until 6-8 years of age at the earliest in stable patients requiring support only during sleep. 1

Transition Options After Age 6-8 Years

BiPAP Transition Criteria

Consider transitioning to BiPAP only if ALL of the following criteria are met:

• Patient is at least 6-8 years old 1
• Requires ventilatory support only during sleep (not 24 hours/day) 1
• Has a milder CCHS phenotype 1
• Is stable without acute respiratory complications 1

Key BiPAP Limitations:

• Should only be used during sleep time, as masks interfere with daily activities and social interaction, and increase risk of skin breakdown. 1

• Must use timed mode to guarantee breath delivery, as CCHS patients cannot generate adequate spontaneous breaths to trigger the ventilator. 1

• Should never be used with a tracheostomy—if a tracheostomy is present, positive pressure ventilation is much more reliable and effective. 1

• Requires close follow-up for mask fit to avoid facial complications and mid-face hypoplasia. 1

Diaphragmatic Pacing Criteria

Diaphragmatic pacing is an optimal form of ventilatory support during wakefulness in carefully selected patients who meet ALL of these criteria:

• No or mild intrinsic lung disease 1
• Not obese 1
• Intact phrenic nerve-diaphragm axis integrity 1
• Presence of a tracheostomy at least at the beginning of diaphragm pacing 1

Diaphragmatic Pacing Advantages:

• Provides freedom from mechanical ventilator during daytime use, allowing participation in supervised age-appropriate activities. 1

• System is small, light, battery-operated, and easily portable. 1

• May allow for tracheostomy removal in older patients using pacers during sleep only. 1

Critical Diaphragmatic Pacing Limitations:

• Patients requiring 24-hour ventilatory support should have an alternate form of ventilation for part of the day if pacers are used—typically pacers for daytime with positive pressure ventilation at night. 1

• Conservative use is recommended: 12-15 hours per day maximum in active children. 1

• Obstructive apnea can complicate diaphragm pacing during sleep in decannulated patients, as synchronous upper airway muscle contraction does not occur with paced inspiration. 1

• Requires surgical implantation by pediatric cardiovascular-thoracic surgeons with extensive expertise in diaphragm pacing at specialized centers. 1

• Patients still require continuous monitoring with pulse oximetry and end-tidal CO2, plus continuous care by highly trained registered nurses. 1

• Mandatory backup diaphragm pacer transmitter and spare antennae must be available at home. 1

Clinical Algorithm

For ALL CCHS patients:

1. Start with positive pressure ventilation via tracheostomy in infancy and early childhood 1

2. At age 6-8 years, reassess for potential transition based on:

   • Severity of CCHS phenotype 1
   • Hours of ventilatory support needed per day 1
   • Presence of intrinsic lung disease 1
   • Patient/family preferences and lifestyle goals 1

3. If requiring sleep-only support: Consider BiPAP transition with close monitoring for mid-face hypoplasia 1

4. If requiring 24-hour support: Consider diaphragmatic pacing for daytime use (if criteria met) combined with positive pressure ventilation at night 1

5. If diaphragmatic pacing is pursued: Ensure implantation at a center with extensive CCHS and pacing expertise, with annual comprehensive evaluations 1

Common Pitfalls to Avoid

• Never use BiPAP in infants or young children due to life support inadequacy and mid-face hypoplasia risk. 1

• Never use oxygen alone without ventilatory support—this is inadequate treatment for CCHS. 2

• Never assume weaning from ventilation is possible—CCHS patients require lifelong ventilatory support and cannot be "trained" to breathe adequately. 1

• Never use diaphragmatic pacing as sole support in patients requiring 24-hour ventilation—always maintain alternate ventilation modality for part of the day. 1

• Never transition to noninvasive methods without ensuring backup positive pressure ventilation equipment is immediately available for acute respiratory illnesses. 1