Congenital Central Hypoventilation Syndrome (CCHS)

Congenital central hypoventilation syndrome (CCHS) is a rare, potentially life-threatening disorder. It affects automatic body functions, especially breathing. Signs of CCHS may appear during infancy or later in life. Most people with CCHS eventually require a machine to help them breathe, as well as care from a team of specialists.

Overview

What is congenital central hypoventilation syndrome?

Congenital central hypoventilation syndrome (CCHS) is a rare, potentially life-threatening disorder. It’s present at birth and affects a person throughout life. CCHS makes you hypoventilate (breathe too shallowly or too slowly), especially when sleeping. As a result, you don’t get enough oxygen and have too much carbon dioxide in your blood.

CCHS affects the autonomic nervous system, which regulates involuntary bodily processes. The disorder may impact other automatic body functions, including:

• Blood pressure.
• Bowel function.
• Heart rate.
• Body temperature.

It’s also called:

• Congenital central hypoventilation.
• Congenital failure of autonomic control.
• Congenital failure of respiratory drive.
• Haddad syndrome.
• Ondine syndrome, Ondine-Hirschsprung disease or Ondine’s curse.

How common is CCHS?

Congenital central hypoventilation syndrome is rare, with only about 1,000 cases identified worldwide.

However, scientists believe that undiagnosed CCHS may have caused some cases of sudden infant death syndrome (SIDS).

Symptoms and Causes

What are the symptoms of congenital central hypoventilation syndrome?

The first symptoms of CCHS usually appear shortly after birth and may include:

• Bluish skin or lips (cyanosis).
• Hypoventilation when sleeping.

But mild cases may not be noticed until later in life. Other signs may include:

• Eye abnormalities, such as decreased response to light, crossed eyes (strabismus) or altered depth perception.
• Decreased perception of pain.
• Deficiency in growth hormones.
• Episodes of excessive sweating for no apparent reason.
• Gastrointestinal (GI) issues, like reflux, constipation, small bowel obstruction, large bowel obstruction or Hirschsprung disease.
• Low body temperature.
• Neurological problems, including learning disabilities.
• Trouble regulating heart rate and blood pressure.

What causes congenital central hypoventilation syndrome?

A mutation in the PHOX2B gene causes CCHS. The gene helps make a protein important to the production of nerve cells during fetal development. Most cases of CCHS involve a sporadic (new, sudden) mutation, but the mutation can be inherited.

Diagnosis and Tests

How is CCHS diagnosed?

The only way to confirm a CCHS diagnosis is to verify a PHOX2B gene mutation through genetic testing.

But healthcare providers may order other tests to understand the condition’s effects, like:

• Blood tests.
• Colonoscopy, sometimes with biopsy, to assess GI symptoms.
• Echocardiogram to evaluate your heart.
• Imaging tests such as X-ray, CT scan or MRI to see inside your chest and abdomen and look for blockages.
• Ophthalmologic tests to evaluate your eyes.
• Sleep studies.

Management and Treatment

Is there a cure for CCHS?

There’s no cure for CCHS. Treatment aims to manage symptoms and keep you safe and comfortable.

What is the treatment for congenital central hypoventilation syndrome?

Most people with CCHS need lifelong ventilatory support (a machine to help you breathe). Some need it all day, every day. But others need it only during sleep.

Other common supportive treatments include:

• Glasses, contact lenses or surgery to correct vision problems or protect your eyes from too much light.
• Growth hormone therapy.
• Medications to relieve GI symptoms.
• Medications or procedures to help manage blood pressure and heart rate.
• Routine screening tests to catch associated health problems early.

Treatment may involve a number of specialists, including:

• Cardiologists for heart problems.
• Ear, nose and throat specialists.
• Endocrinologists for hormone-related issues.
• Gastroenterologists for digestive problems.
• Neurologists for effects on the brain and learning.
• Ophthalmologists to manage symptoms affecting the eyes.
• Primary care physicians, such as pediatricians.
• Pulmonologists for breathing issues.
• Speech and language pathologists.
• Social workers.

Outlook / Prognosis

What is congenital central hypoventilation syndrome life expectancy?

Life expectancy and disabilities with CCHS vary widely. The prognosis depends on disease severity, as well as the timing and effectiveness of treatments.

With early diagnosis and effective treatment, people with mild CCHS can have fulfilling, productive lives. But those with severe cases or ineffective treatment can have significant disabilities, health issues and a shorter life span.

It’s important to note that people with CCHS may be more likely to get certain nervous system tumors. They should have regular screening tests for:

• Neuroblastoma.
• Ganglioneuroblastoma.
• Ganglioneuroma.

Prevention

How can I prevent congenital central hypoventilation syndrome?

To date, there are no proven strategies to prevent CCHS.

Living With

What else can I ask my doctor about congenital central hypoventilation syndrome?

If you or a loved one has been diagnosed with CCHS, consider asking healthcare providers the following questions:

• How severe is my case of CCHS?
• What body systems does my CCHS affect?
• What specialists will I need?
• Do I need a ventilator? If so, will I use it all the time or only when I’m sleeping?
• How often should I have tests to monitor my eyes, heart, lungs, GI tract and other body systems?
• How often should I be screened for cancer?
• Should people in my family get genetic testing?

A note from Wockr

Congenital central hypoventilation syndrome (CCHS) is a rare, potentially life-threatening disorder. It affects breathing and other automatic bodily functions as early as infancy or later in life. If you notice that you or your baby has symptoms of CCHS, seek medical attention as soon as possible.