Routine Monitoring

Routine monitoring is important in CCHS. Early detection gives the patient the best chance for getting the right treatment quickly, avoiding any complications.

  • CCHS patients should undergo an annual assessment of spontaneous breathing both awake and asleep in a pediatric respiratory physiology laboratory.
  • For patients with a tracheostomy, a bronchoscopy should be performed by an experienced pediatric otolaryngologist every 12 to 24 months to allow for early diagnosis of granulomas or other airway abnormalities.
  • At minimum, an annual 72-hour Holter study should be performed to detect cardiac pauses. Pauses greater than 3.0 seconds should be assessed for cardiac pacemaker implantation by a cardiologist.
  • An echocardiogram, hematocrits, and reticulocyte counts may also be needed to evaluate for signs of heart problems that occur as a consequence of inadequate ventilation.
  • Consultation with a gastroenterologist (and possibly rectal biopsy) may be needed for patients with constipation to detect Hirschsprung’s disease.
  • In patients with PARM mutations 20/29 and higher as well as patients with NPARM mutations, routine serial chest and abdominal imaging is crucial for detecting the emergence of a neural crest tumor, specifically neuroblastoma (NPARMs) and ganglioneuroblastoma/ganglioneuroma (PARMs).
  • Ophthalmologic testing may be needed in some patients to assess for visual dysfunction.


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