Congenital Central Hypoventilation Syndrome

CCHS is a breathing disorder that begins early in life

sleeping baby

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Congenital central hypoventilation syndrome (CCHS), also known as Ondine syndrome, is a disorder that affects your ability to breathe. People with CCHS have trouble breathing properly, especially while sleeping. Instead of breathing regularly, people with CCHS hypoventilate (take shallow breaths), which decreases the amount of oxygen in the blood and increases carbon dioxide levels.

CCHS is estimated to affect about 1,000 people. However, this number may be higher as researchers believe that some cases of sudden infant death syndrome (SIDS) might be undiagnosed CCHS. A gene defect (PHOX2B) has been associated with congenital central hypoventilation syndrome. This gene promotes neuron formation in the nervous system. A defect in this gene can explain why someone with CCHS has difficulty regulating their breathing. 

CCHS is a genetic condition. Only one parent has to pass down the genes for their child to be affected. However, 90 percent of cases result from new mutations –– meaning they were not passed down. 

Symptoms of CCHS

Infants born with CCHS symptoms can range from mild to severe, and may include:

  • Poor breathing or complete lack of spontaneous breathing, especially during sleep
  • Abnormal pupils (70 percent of individuals)
  • Feeding difficulty due to acid reflux and decreased intestinal motility
  • Hirschsprung disease, an intestinal disorder that makes it difficult to pass stool (20 percent of individuals)
  • Decreased ability to feel pain
  • Episodes of increased sweating 
  • Low body temperature
  • A short, wide box-shaped face
  • Cognitive difficulties 

Getting a Diagnosis

In order to be diagnosed with congenital central hypoventilation syndrome, the following symptoms must be present:

  • Persistent evidence of poor breathing during sleep
  • Symptoms that begin during the first year of life
  • No other respiratory or muscular conditions that could account for breathing difficulties
  • No evidence of heart disease.

Some infants with CCHS may be mistakenly thought to have heart defects or to have another type of breathing problem. A definitive diagnosis can be made through genetic testing for PHOX2B defects.

Treating CCHS

If CCHS is suspected, a sleep study can help determine how severe breathing difficulties are, as well as what treatments will be needed. Other special respiratory function tests can be conducted as well. Complete cardiac and neurological examinations can rule out any other type of respiratory or muscular disorder. Early diagnosis and treatment are important to prevent serious complications caused by periods of low or no oxygen.

Treatment focuses on providing breathing support, usually through the use of a respirator (ventilator). Most people with CCHS will need a tracheostomy. Some children with CCHS will need a ventilator 24 hours per day. Others may only need breathing help when sleeping. In some individuals, a surgical implant in the diaphragm muscle can allow electrical stimulation of the muscle to control breathing. 

Children with CCHS are able to lead active lives. They do, however, need close supervision while swimming or playing in pools, since their bodies may forget to breathe while underwater. CCHS is a lifelong condition that requires frequent monitoring and strict adherence to treatment. By catching the condition early and following treatment protocol, those with the condition can have an average life expectancy.

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