Health Library

Congenital Central Hypoventilation Syndrome (CCHS)

What Causes Congenital Central Hypoventilation Syndrome?

CCHS is usually caused by changes (called mutations) in a gene known as PHOX2B. Genes are like instruction books for the body. In CCHS, the mutation in the PHOX2B gene affects how the autonomic nervous system works.

Most of the time, these mutations occur randomly. It is not inherited from a parent and is not caused by anything a parent did. Rarely, a parent with a mild form of the mutation can pass it down.

There are different types of PHOX2B mutations. The number or type of changes in the gene can affect how severe the condition is and what body systems it affects. The larger the size of the mutation in the gene, the more severe the condition. Larger mutations usually lead to more severe symptoms that appear soon after birth, often within the first 30 days of life.

Smaller mutations tend to cause a milder form of the condition. In these milder cases, breathing problems may not appear right away. Instead, symptoms may begin during early childhood, teenage years or even adulthood. These people may have breathing trouble during sleep or may be diagnosed after episodes like fainting or breath holding.

Occasionally, a person with CCHS may have a different type of mutation in the PHOX2B gene that causes certain risks specific to that type of mutation. Each type can affect the body in different ways. For example, some mutations are linked to a higher risk of heart rhythm problems, severe constipation or rare nerve-related tumors called neuroblastomas. Other mutations may cause breathing issues during sleep. This is why genetic testing is important to determine what type of mutation a person with CCHS has.

What are the Signs and Symptoms of Congenital Central Hypoventilation Syndrome?

One of the first signs of CCHS in babies is shallow breathing or pauses in breathing, especially during sleep. Some babies may turn blue, a sign called cyanosis, because they are not getting enough oxygen.

Other signs and symptoms can include:

• Breath-holding: Babies or children may hold their breath without feeling the urge to breathe normally. This can happen while awake or asleep.
• Turning blue during sleep or after breath-holding: Some children may have a bluish tint to their lips or skin, especially during naps or overnight.
• Constipation: A child may go several days without pooping, strain during pooping or seem uncomfortable.
• Trouble feeding or swallowing: A child may cough, gag or seem to struggle when feeding. Older children or teens may take a long time to eat or avoid certain foods.
• Fainting or passing out: A child may faint, especially during or after physical activity. In older kids or teens, this may be their first noticeable symptom.
• Unresponsive pupils: A child’s pupils might not get smaller in bright light or bigger in darkness, which can affect how their eyes adjust to changes in lighting.
• Trouble controlling body temperature: A child may not be bothered by very hot or cold temperatures. They may sweat too much or not enough.
• Reduced sensitivity to pain: A child may not feel pain as intensely or react to injuries in the same way others would expect. This may be more obvious in older children or teens who injure themselves and seem unaffected.

In teens or adults with later onset CCHS, the first signs may include excessive daytime sleepiness, headaches after waking or confusion after sleep. These symptoms are often caused by low oxygen levels at night. Some may be diagnosed after a fainting spell or complications during surgery or sedation.

In some cases, seizures or learning difficulties can occur. These are often linked to complications from low oxygen levels rather than from CCHS itself.

Symptoms can vary based on the specific gene mutation a child has. Some children may only have breathing issues when asleep. Others may have trouble breathing when they are awake.

Other Health Concerns Linked to CCHS

CCHS can affect more than just breathing. These issues are not always noticeable right away but may be discovered during follow-up care. Children with CCHS are usually followed by a team of specialists including pulmonologists (lung doctors), cardiologists (heart doctors), neurologists (brain and nervous system doctors) and genetic counselors (genetic experts who help you understand genetic testing results). Your child’s care team will help monitor these conditions over time:

• Heart rhythm problems (arrhythmias): Some children may develop an abnormal heart rhythm, which may require a pacemaker, a small device placed in the chest to help keep the heartbeat regular.
• Hirschsprung disease: Some children develop a condition where part of the intestines does not move waste through the body properly. This can lead to serious digestive problems if left untreated.
• Certain types of tumors: Children with specific gene mutations may have a slightly increased chance for rare tumors that develop in nerve tissue called neuroblastomas. These tumors are very rare, but your child’s care team may recommend regular screenings such as imaging tests (like chest or belly ultrasounds) and urine (pee) or blood tests to check for early signs.

Not every child with CCHS will have these conditions. Routine follow-ups with your child’s care team help make sure the child is monitored for these conditions regularly.

How is Congenital Central Hypoventilation Syndrome Diagnosed?

The only way to diagnose CCHS is through a genetic test, usually a blood test. Doctors may suspect CCHS if a newborn has unexplained breathing problems, especially during sleep.

In some cases, doctors might run other tests first to rule out more common causes of breathing trouble. Sleep studies and evaluations by specialists like pulmonologists (lung doctors) and cardiologists (heart doctors) are often part of the process.

Because CCHS is rare, early genetic testing is important. Quick diagnosis means families and doctors can start the right treatment to support breathing and prevent complications like low oxygen levels, fainting or other serious health issues.

How is Congenital Central Hypoventilation Syndrome Treated?

There is no cure for CCHS, but there are effective ways to manage it.

Treatment often involves helping the child breathe with a ventilator (a breathing machine), especially during sleep. For children who need breathing support all the time, a tracheostomy may be placed. A tracheostomy is a small opening made in the neck into the windpipe where a tube can be placed to help with breathing. Children can use portable ventilators to move around and live as normal a life as possible.

Some people may also be helped by a diaphragm pacemaker. This is a device that is surgically implanted to stimulate the diaphragm, the muscle that helps us breathe. It works by sending electrical signals to the diaphragm to help the diaphragm to contract and pull air into the lungs. Diaphragm pacemakers can allow some people with CCHS to breathe without a traditional ventilator during certain times, like when they are awake.

Children with heart rhythm problems may need a pacemaker, a small device implanted in the chest that helps keep the heartbeat steady. It works by sending electrical signals to the heart if it starts beating too slowly or irregularly. If your child needs a pacemaker, their cardiologist will manage the device and monitor it during follow-up visits.

Because CCHS can affect many systems of the body, children often receive care from a team of specialists. Depending on your child’s needs, regular checkups with this team will help monitor breathing, heart function, digestion, growth and development over time.

Doctors recommend avoiding activities that could make breathing more difficult or hazardous. These activities can lead to dangerously low oxygen levels (hypoxia). This means the body and brain aren’t getting enough oxygen to work properly. This can lead to confusion, fainting, seizures or damage to the brain and other organs.

These activities include:

• Swimming, since children with CCHS may not recognize when they are holding their breath too long underwater, which can increase the risk of drowning
• Playing breath-holding games or contests, because children with CCHS may not feel the natural urge to breathe and could pass out without warning
• Using alcohol, recreational drugs or certain prescription medicines that slow down breathing

Your child’s doctor will also provide specific safety tips based on your child’s needs. Following these recommendations can help your child stay active, healthy and doing the things they love.

Congenital Central Hypoventilation Syndrome Prognosis

With the right care, children with CCHS can lead full and active lives. Many grow up to attend school, go to college, have careers and start families of their own.

A breathing support plan is a personalized plan created by your child’s care team, usually led by a pulmonologist or sleep specialist, that outlines when and how your child needs help breathing. It may include using a ventilator during sleep, having a diaphragm pacemaker installed, or using other tools depending on your child’s needs. In some cases, occupational or respiratory therapy may also be a part of the plan to help children become more aware of breathing when they are awake. Following this plan helps protect your child from low oxygen levels and supports healthy growth and development.

Good management of CCHS is key. Following breathing support plans, getting regular check-ups and staying connected with specialists make a big difference.

Although research is ongoing, there is no gene therapy or cure yet. Families are encouraged to connect with support groups and resources to help navigate life with CCHS. Genetic counselors can be an excellent resource. They help families understand what the diagnosis means, explain how the condition happened and talk through testing options for other family members if needed. They can also guide families to emotional support services and help them plan for future health needs.