Central hypoventilation syndrome

Breathing is normally an automatic function controlled by the brainstem. It happens on its own, so you don’t have to think about it. With central hypoventilation syndrome (CHS), this automatic control doesn’t work properly, especially during sleep. The brain fails to send the right signals to the breathing muscles, causing shallow or slow breathing. This can lead to dangerously low oxygen levels and a buildup of carbon dioxide in the body. CHS, also known as “Ondine’s curse,” may be congenital (present at birth) or acquired later in life due to brain or nerve damage.

Penn Medicine’s pulmonology specialists are highly experienced in addressing hypoventilation disorders like CHS. As part of a large medical system, we’re able to easily collaborate with top neurologists and a range of other specialists for diagnosis and treatment. We also work closely with Children’s Hospital of Philadelphia (CHOP) on pediatric cases.

CCHS is a rare condition caused by mutations in the PHOX2B gene, which affects nervous system development. This genetic mutation is inherited in some cases but can also occur on its own. Acquired CHS is caused by damage to the brainstem that affects the brain’s ability to regulate breathing, such as stroke, brain injury, tumors, or certain neurological diseases.

CHS treatment usually includes ventilators or other breathing support, especially at night. Infants and young children with CCHS may initially require continuous ventilation to ensure consistent breathing. Whenever possible, these young patients move to noninvasive ventilation methods as they mature. Surgical placement of an electrode to stimulate the phrenic nerve, which contracts the diaphragm and improves breathing, can help reduce the need for around-the-clock ventilation.

Treatments include:

• Positive pressure ventilation (PPV)
• Non-invasive positive pressure ventilation (NIPPV)
• Diaphragmatic pacing
• BiPAP therapy

When you and your family are dealing with a rare respiratory disorder like central hypoventilation syndrome, you’ll benefit from the deep experience, backed by significant research and resources, of the Penn Medicine health system. Our pulmonologists are leaders in their field with access to the latest imaging technologies and breathing treatments. They collaborate with neurologists, sleep specialists, respiratory therapists, and other top specialists to deliver excellent care, support independence, and improve quality of life.

The Fishman Program for Home Assisted Ventilation at Penn Medicine is a pioneering model of noninvasive respiratory care, serving people with breathing disorders or respiratory conditions, including CCHS and acquired CHS. One of the only child-to-adult transitional care programs in the nation for people with chronic respiratory disease, we work with pediatric specialists at Children’s Hospital of Philadelphia (CHOP) to move young patients into adult care.