What causes congenital central hypoventilation syndrome?

Updated: Jul 22, 2021
  • Author: Jazeela Fayyaz, DO; Chief Editor: Guy W Soo Hoo, MD, MPH  more...
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Answer

Hypoventilation may be caused by depression of the central respiratory drive. Congenital central hypoventilation syndrome (CCHS), previously known as Ondine curse, is defined as the failure of automatic control of breathing. It generally presents in newborns and, in 90% of the cases, is caused by a polyalanine repeat expansion mutation in the PHOX2B gene. Patients heterozygous for PHOX2B may have milder forms of the disease and live into adulthood. [4]

CCHS may occur in association with Hirschsprung disease. In addition, patients with CCHS are at increased risk for neuroblastoma and ganglioneuroma. [4]

These patients have absent or minimal ventilatory response to hypercapnia and hypoxemia during sleep and wakefulness. Since these individuals do not develop respiratory distress when challenged with hypercapnia or hypoxia, progressive hypercapnia and hypoxemia occurs during sleep. Ventilation in CCHS patients is more stable during rapid eye movement (REM) sleep than in non-REM sleep. [5]

The diagnosis is established after excluding another cause, either pulmonary, cardiac, metabolic, or neurologic, for central hypoventilation. Patients with CCHS require lifelong ventilatory support during sleep, and some may require 24-hour ventilatory support.


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