CCHS

CCHS

Congenital Central Hypoventilation Syndrome

Congenital Central
Hypoventilation Syndrome

Diaphragm Pacing for Patients with CCHS

In patients with CCHS, the brain fails to send proper signals to the phrenic nerve, which controls breathing. Without this signal, the body cannot maintain healthy oxygen and carbon dioxide levels—a condition that can be fatal in a short time. (Source: NORD)

The Avery Diaphragm Pacemaker provides a life-changing solution by directly stimulating the phrenic nerve. This stimulation causes the diaphragm to contract, allowing patients to take natural breaths.

 

Benefits of the Avery Diaphragm Pacemaker for CCHS

  • Fewer Hospital Readmissions
    • CCHS patients using diaphragm pacing often avoid frequent setbacks tied to long-term ventilator use, such as ventilator-associated pneumonia (VAP) and diaphragm weakening. This means fewer hospital stays and greater day-to-day stability
  • Lower Risk of Infections
    • By reducing or eliminating the need for external ventilator tubing, frequent suctioning, and in some cases a tracheostomy, diaphragm pacing significantly decreases the chances of respiratory infections.
  • Improved Circulatory and Respiratory Function
    • Negative-pressure breathing with diaphragm pacing allows the lungs to expand more naturally compared to positive-pressure ventilation (PPV). This supports healthier blood flow and more efficient gas exchange — critical for CCHS patients who already have limited ventilatory drive.
  • Proven Clinical Success
    • Clinical studies and decades of use have demonstrated that phrenic nerve stimulation can provide stable, effective breathing support, maintaining normal tidal volumes and blood gas levels in patients with central hypoventilation.
  • More Natural Breathing and Speech
    • Unlike mechanical ventilation, diaphragm pacing allows for a more natural breathing pattern. Patients can often speak, eat, and drink more comfortably, promoting independence and a higher quality of life.
  • Freedom and Discretion
    • The Avery Diaphragm Pacemaker is small, silent, and portable. Many CCHS patients can live at home, go to school, and participate in daily activities without being tethered to large, noisy ventilators — while also lowering long-term care costs.

For an individual with CCHS, the Avery Diaphragm Pacemaker can:

    • Support Breathing: It helps the child breathe regularly, especially during sleep when CCHS causes the most problems, reducing the need for a ventilator or mask.
    • Improve Quality of Life: The device is portable and doesn’t require tubes or masks, so kids can move around more freely, play, and do daily activities.
    • Work with the Body: It uses the child’s own diaphragm and lungs, making breathing feel more natural.
    • Provide Long-Term Help: The pacemaker can be adjusted as the child grows to meet their needs.

How does the Avery Diaphragm Pacemaker help patients with CCHS?

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Noah's Diaphragm Pacing Story

Noah was born with CCHS and began pacing with the Avery Diaphragm Pacemaker 4 years ago.  His family discovered the device through families in the CCHS family network, and then followed up with the CCHS experts at CHLA.  The results have been life-changing.  

Previously, he was tied to his ventilator 24/7.  In order to do most activities that toddlers enjoy, his parents would backpack his vent on their backs so that he could participate in as much as possible, but it was challenging.  Now, they say he can do “literally almost everything!”  He’s a straight A student and paces all day at school, swims, golfs, plays basketball, and loves traveling to new places (the image here is Noah recently pacing on a trip to Hawaii!). 

“Pacers have given Noah (and our family) the Freedom to live our best life!  We’re so grateful!”

 
Noah With Diaphragm Pacemaker

What Causes CCHS?

Diagnosis of CCHS must be done by a licensed physician, especially with the severe nature of the condition and requirements for care. Studies have shown CCHS to be the result of a mutation in a specific gene known as PHOX2B that encourages the formation of neurons (nerve cells) and manages how they form. While this mutation may be inherited, in the majority of cases the mutation occurs within the affected patient and is not inherited from a parent.

CCHS is characterized by adequate ventilation while the patient is awake and by hypoventilation with shallow breathing during sleep. More severely affected patients hyperventilate when both awake and asleep. This is caused by the brain not sending a signal to the phrenic nerves (the neurological pathways between the brain and each hemidiaphragm, originating at the C3-C5 vertebrae).

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Additional Conditions Associated with CCHS

Hirschsprung Disease

(occurs in ~20% of CCHS patients, especially those with NPARMs)

What is it?   A condition where nerve cells are missing in parts of the intestine, leading to problems with bowel movements.

Symptoms:
  • Swollen abdomen
  • Severe constipation
  • Intestinal blockages
  • Diarrhea
  • Vomiting
  • Gas
  • Enlarged colon 3

Note: When CCHS occurs with Hirschsprung disease, it’s referred to as Haddad Syndrome.4

ROHHADS:

(Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation)1

What is it?  A rare pediatric syndrome marked by sudden weight gain (typically between ages 1.5–10), followed by breathing difficulties and signs of autonomic dysfunction.

Symptoms:
  • Rapid obesity
  • Worsening hypoventilation
  • Potential behavioral issues if ventilation is inadequate.

Note: Unlike CCHS, there is currently no known genetic cause for ROHHAD.2

CCHS is Sometimes Also Called Ondine’s Syndrome

Ondine, a water nymph from German mythology, cursed her unfaithful husband “As long as you are awake, you shall have your breath, but should you ever fall asleep, then that breath will be taken from you and you will die!” From this ancient myth comes the name “Ondine’s Syndrome,” still used in certain parts of the world as a name for CCHS due to the difficulty of breathing during sleep.

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References:

  1. Weese-Mayer DE, Rand CM, Zhou A, Carroll MS, Hunt CE. Congenital central hypoventilation syndrome (CCHS): a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life. Pediatr Res. 2017;81:192–201. PubMed PMID: 27673423.
  2. Barclay SF, Rand CM, Borch LA, Nguyen L, Gray PA, Gibson WT, Wilson RJ, Gordon PM, Aung Z, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE. * Bech-Hanson NT.* Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. Orphanet J Rare Dis. 2015;10:103. [* equal sr authors]. PubMed PMID: 26302956.

  3. Mayo Foundation for Medical Education and Research. (2021, August 21). Hirschsprung’s disease. Mayo Clinic. Retrieved February 26, 2022

  4. Tsoutsinos A, Karanasios E, Chatzis AC. Haddad Syndrome. Hellenic J Cardiol. 2016 Jan-Feb;57(1):45-7. doi: 10.1016/s1109-9666(16)30019-7. PMID: 26856202.