Congenital Central Hypoventilation Syndrome Guidelines

Updated: Apr 21, 2021
  • Author: Amy Brown, MD, MS; Chief Editor: Girish D Sharma, MD, FCCP, FAAP  more...
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Guidelines Summary

The following guidelines summary is adapted from the American Thoracic Society (ATS) 2010 Practice Guidelines [1] :

1. A PHOX2B mutation is required to make the diagnosis of CCHS. 

2. Because CCHS is a disease of autosomal dominant inheritance, patients with CCHS who plan to have children should consider genetic counseling. If the diagnosis is confirmed in a patient with CCHS, genetic counseling for testing should be offered to the parents and siblings of the patient when deemed appropriate. 

3. A high suspicion for CCHS should be considered in patients with unexplained alveolar hypoventilation and delayed recovery from sedative procedures and anesthesia, especially those with a history of neurocognitive delays. 

4. CCHS is a lifelong disease. Patients do not outgrow CCHS. There is a need for lifelong ventilatory support. 

5. CCHS is not a disease of the lung parenchyma; it is a disease of abnormal brain communication with the lungs (central drive) to control ventilation. To provide ventilatory assistance, use of a tracheosomy to a ventilator, or invasive ventilation, is recommended. 

6. We are leaning more, but there is still a knowledge gap about the genotype CCHS mutation and the associated phenotype. 

7. For families who have lost loved ones to CCHS, obtaining tissue samples via autopsy may be helpful to provide more information about biologic abnormalities in these patients.