Congenital Central Hypoventilation Syndrome Follow-up

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

Periodic follow-up is necessary and is usually more frequent in younger children with congenital central hypoventilation syndrome (CCHS). Follow-up incorporates multidisciplinary approaches, aiming to determine that all areas receiving care are addressed. The American Thoracic Society Statement from 2010 outlines the comprehensive monitoring that should take place at recommended intervals [1] :

  • Adequacy of ventilatory support must be established based on an overnight sleep study in the laboratory, which should be done periodically. Guidelines recommend testing with nocturnal polysomnography (NPSG) every 6 months of life for the first 3 years and then at least annually. 
  • Cardiac evaluation with an echocardiogram is recommended to assess for signs of cor pulmonale every 6 months for the first 3 years of life, with annual evaluations following. Cardiac evaluation should also include 72-hour continuous electrocardiography (Holter monitoring). 
  • Patients should have annual complete cell blood (CBC) counts to assess for polycythemia, which would result from untreated hypoxia. Patient should also have an annual blood gas analysis to detect respiratory acidosis, which suggests inadequate ventilatory support. 
  • Certain patients with high-risk mutations for neural crest tumors ( PHOX2B NPARMs, patients with PARMS 20/28 or greater) should be evaluated frequently for the respective associated malignancies. Surveillance for neuroblastomas (NPARM mutations) should take place every 3 months for the first 2 years of life and every 6 months until age 7 years. Evaluation consists of imaging of the chest and abdomen, as well as measurement of urine catecholamines. Surveillance for ganglioneuromas and ganglioneuroblastomas (PARM 20/28 and longer) is recommended annually with chest and abdominal imaging.  

The CCHS family network provides community support for families and individuals affected by CCHS. There is a significiant emotional, social, and financial burden for patients with CCHS. 


Further Inpatient Care

In the immediate neonatal period, many patients with CCHS often develop a constellation of symptoms suggestive of CCHS. The initial evaluation often takes place in the inpatient setting. Patients, however, may present at varying points, and the presentation may dictate whether inpatient management is warranted. Often, these patients are managed initially in the inpatient setting, not only because of the severity of their presentation, but also owing to the coordinated nature of the specialists who work together in the inpatient setting.

Initial inpatient management includes patient stabilization and treatment of the underlying conditions. The patient's absent or negligible respiratory drive warrants close monitoring of pulse oximetry and end-tidal carbon dioxide, particularly during asleep states, because the patient may develop profound hypoxemia and hypercarbia whenever he or she is hospitalized for any reason.