What are the other Names for this Condition? (Also known as/Synonyms)

• CCHS (Congenital Central Hypoventilation Syndrome)
• Congenital Central Alveolar Hypoventilation Syndrome
• Ondine's Curse

What is Congenital Central Hypoventilation Syndrome? (Definition/Background Information)

• Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder that affects the autonomic control of breathing. It is typically caused by mutations in the PHOX2B gene, which plays a crucial role in regulating involuntary respiratory functions. Individuals with CCHS have difficulty sensing low levels of oxygen and high levels of carbon dioxide in their blood, leading to inadequate breathing responses, particularly during sleep
• Congenital Central Hypoventilation Syndrome is a form of pediatric-onset dysautonomia. The signs and symptoms of CCHS can vary in severity but often include shallow breathing or even periods of apnea (temporary cessation of breathing) during sleep. While awake, individuals might exhibit normal breathing patterns, but their respiratory control becomes compromised during sleep, resulting in insufficient oxygen intake and excessive carbon dioxide retention
• The diagnosis of Congenital Central Hypoventilation Syndrome involves clinical evaluation, respiratory function tests, and genetic testing to identify mutations in the PHOX2B gene. Polysomnography, a sleep study, is commonly employed to monitor breathing patterns and identify abnormalities during sleep
• The treatment of Congenital Central Hypoventilation Syndrome primarily revolves around managing respiratory function to ensure sufficient oxygen intake and carbon dioxide elimination. This often involves long-term use of positive airway pressure (PAP) devices, ventilatory support, and supplementary oxygen therapy, especially during sleep. Some individuals might require assistance with breathing throughout the day as well
• The prognosis for individuals with Congenital Central Hypoventilation Syndrome varies depending on the severity of the condition and the effectiveness of the treatment. With proper management, many individuals can lead relatively normal lives, although they might require ongoing medical interventions. Early diagnosis and comprehensive care are crucial in improving the long-term outlook and quality of life for those with CCHS

Who gets Congenital Central Hypoventilation Syndrome? (Age and Sex Distribution)

• Congenital Central Hypoventilation Syndrome is typically present from birth, affecting both genders and various age groups
• The condition may occur worldwide, affecting individuals of all racial and ethnic groups

What are the Risk Factors for Congenital Central Hypoventilation Syndrome? (Predisposing Factors)

• Risk factors include a family history of Congenital Central Hypoventilation Syndrome and specific genetic mutations

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Central Hypoventilation Syndrome? (Etiology)

Congenital Central Hypoventilation Syndrome is primarily caused by mutations in the PHOX2B gene, which disrupts autonomic breathing control.

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

The signs and symptoms of Congenital Central Hypoventilation Syndrome may be mild or severe and can vary from one individual to another. These may include:

• Shallow breathing
• Apnea during sleep
• Oxygen and carbon dioxide level imbalances
• In children, bluish lips and skin (cyanosis)
• Respiratory issues, primarily during sleep

In some children with mild symptoms, the condition may become apparent only in adulthood.

How is Congenital Central Hypoventilation Syndrome Diagnosed?

A diagnosis of Congenital Central Hypoventilation Syndrome may involve the following tests and exams:

• Clinical evaluation and assessment of family medical history
• Polysomnography sleep studies to monitor breathing patterns
• Genetic testing for PHOX2B mutations

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Central Hypoventilation Syndrome?

The complications of Congenital Central Hypoventilation Syndrome may include:

• Inadequate oxygen intake
• Excessive carbon dioxide retention
• Potential effects on other body systems due to respiratory imbalances

How is Congenital Central Hypoventilation Syndrome Treated?

The treatment of Congenital Central Hypoventilation Syndrome focuses on managing respiratory function using the following measures:

• Positive airway pressure (PAP) devices
• Ventilatory support
• Oxygen therapy, especially during sleep
• Some individuals might require assistance with breathing during the day as well

How can Congenital Central Hypoventilation Syndrome be Prevented?

As a genetic disorder, Congenital Central Hypoventilation Syndrome is not preventable. Early diagnosis and proper management, however, can help improve outcomes and one’s quality of life.

What is the Prognosis of Congenital Central Hypoventilation Syndrome? (Outcomes/Resolutions)

• The prognosis of Congenital Central Hypoventilation Syndrome (CCHS) varies depending on severity and treatment efficacy
• With appropriate care, individuals with CCHS can lead relatively normal lives, although ongoing medical interventions might be necessary

Additional and Relevant Useful Information for Congenital Central Hypoventilation Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/