Central hypoventilation syndrome

Central hypoventilation syndrome is impaired automatic breathing caused by reduced respiratory drive, leading to inadequate ventilation, especially during sleep. It may be congenital or acquired.

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Respiratory control: The neural and chemical regulation of breathing to maintain oxygen and carbon dioxide levels. The syndrome arises when automatic neural control fails to sustain adequate ventilation.
Congenital central hypoventilation syndrome: A rare genetic disorder in which automatic breathing is impaired from infancy or early childhood. This is the best-known inherited form of central hypoventilation.
Polysomnography: An overnight study that records sleep, breathing, oxygenation, and related physiological signals. It can reveal sleep-related hypoventilation and distinguish breathing patterns.
Cardiac arrhythmia: An abnormality in the rate or rhythm of the heartbeat. Autonomic dysfunction and hypoxemia can contribute to rhythm disturbances in affected people.
PHOX2B polyalanine repeat expansion: An expansion of a repeated alanine sequence in PHOX2B associated with congenital central hypoventilation. Repeat length is associated with aspects of disease severity, but does not predict every outcome.
Medullary respiratory centers: Brainstem networks that generate and regulate the basic rhythm of breathing. Disruption of these networks can reduce the automatic drive to breathe.
PHOX2B: A gene encoding a transcription factor involved in autonomic nervous system development. Pathogenic PHOX2B variants cause most congenital cases.
Capnography: Measurement of carbon dioxide in exhaled air, often displayed over time. Continuous carbon dioxide monitoring can detect hypoventilation that oxygen readings alone may miss.
Pulmonary hypertension: Elevated blood pressure in the arteries that carry blood from the heart to the lungs. Chronic hypoxemia can strain pulmonary vessels and the right side of the heart.
Mosaicism: The presence of genetically distinct cell populations within one individual. Mosaic PHOX2B variants can complicate testing and may contribute to variable presentation.