Congenital Central Hypoventilation syndrome
Also known as: Central Hypoventilation syndrome; Ondine’s
Congenital central hypoventilation syndrome (CCHS) is a rare genetic condition which results in an abnormal development of the body’s autonomic nervous system (which controls automatic functions like breathing) in early foetal life. The main consequence is a failure to automatically control breathing during sleep, and sometimes while awake.
Last updated October 2019 by Dr M Samuels, Consultant Respiratory Paediatrician, University Hospital of North Midlands, Stoke-on-Trent, and Great Ormond Street Hospital, London, UK.
Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.
The main symptom is the person’s inability to breathe deeply enough, leading to a need for assisted ventilation, most commonly beginning shortly after birth. Affected individuals also do not feel breathlessness and so under-breathe during feeding, exercise or when concentrating. The condition ranges in severity with the worst affected under-breathing both during sleep and when awake. Those least affected may not present till older and may be mildly affected during sleep and with normal breathing when awake.
Children with CCHS may have other problems related to the body’s automatic nervous system, including:
- Hirschsprung’s disease – a failure of the bowel to move normally
- swallowing difficulties
- heart rhythm disorders (see entry Heart Defects)
- increased risk of tumours of nerve tissue
- ‘blue-breath holding’ episodes – stopping breathing and turning blue when crying
- fainting episodes
- epileptic or absence seizures (see entry Epilepsy)
- learning difficulties (see entry Learning Disability)
- eye problems, such as squints
- unusual responses to anaesthestic
- poor temperature control.
CCHS is caused by a mutation (a change) in the PHOX2B gene. This mutation affects the development of the foetus’ autonomic nervous system, which is responsible for involuntary processes such as breathing and heart rhythm.
The diagnosis of CCHS is confirmed by the genetic mutation, but there are some cases where this is negative and the diagnosis relies on recording under-breathing from sensors that measure levels of oxygen and carbon dioxide (the body’s waste gas).
Treatment of CCHS involves providing assisted (mechanical) ventilation when the individual breathes inadequately on their own. No medication has been shown to sufficiently stimulate the breathing enough. The usual ventilator devices blow air into the lungs, through either a tracheostomy (a surgically created hole in the front of the neck), or a mask. In cases where ventilation is needed during both the day and night, this is given through the tracheostomy or, after infancy, by surgically implanted breathing pacemakers (small devices delivering an electrical stimulus) that stimulate the nerves to the diaphragm, the main muscle involved in breathing.
Individuals with CCHS need regular monitoring of their oxygen levels with a sats monitor (pulse oximeter) and sometimes with a carbon dioxide monitor to identify inadequate ventilation. Giving additional oxygen alone would be inadequate treatment. Parents can be trained to look after a child’s ventilation at home.
As children grow, their need for ventilation may change and so regular review is required. The condition is life-long, but most children do well, attend school and have a normal life while awake. Some children need bowel surgery or heart pacemakers for associated complications.
The mutation in the PHOX2B gene is passed to children in an autosomal dominant manner.
This is possible if a PHOX2B mutation has been found in one of the parents. Samples of cells from a foetus can be collected during the pregnancy and tested for the mutation in the PHOX2B gene.
CCHS Support Group
Tel: 01423 421221
Email: via website
The Group provides support for families affected by Congenital Central Hypoventilation Syndrome throughout the UK. It organises conferences for families to meet up and share experiences. These events are also an opportunity to invite CCHS physicians and researchers to share their insight on research and treatments.
Group details last updated November 2019.