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Review
. 2022 Mar 8:15:455-469.
doi: 10.2147/JMDH.S284782. eCollection 2022.

Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach

Ajay S Kasi  1 , Hong Li  2 , Kelli-Lee Harford  1 , Humphrey V Lam  3 , Chad Mao  4 , April M Landry  5 , Sarah G Mitchell  6 , Matthew S Clifton  7 , Roberta M Leu  1
Affiliations
Review

Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach

Ajay S Kasi et al. J Multidiscip Healthc. .

Abstract

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder affecting respiratory control and autonomic nervous system function caused by variants in the paired-like homeobox 2B (PHOX2B) gene. Although most patients are diagnosed in the newborn period, an increasing number of patients are presenting later in childhood, adolescence, and adulthood. Despite hypoxemia and hypercapnia, patients do not manifest clinical features of respiratory distress during sleep and wakefulness. CCHS is a lifelong disorder. Patients require assisted ventilation throughout their life delivered by positive pressure ventilation via tracheostomy, noninvasive positive pressure ventilation, and/or diaphragm pacing. At different ages, patients may prefer to change their modality of assisted ventilation. This requires an individualized and coordinated multidisciplinary approach. Additional clinical features of CCHS that may present at different ages and require periodic evaluations or interventions include Hirschsprung's disease, gastrointestinal dysmotility, neural crest tumors, cardiac arrhythmias, and neurodevelopmental delays. Despite an established PHOX2B genotype and phenotype correlation, patients have variable and heterogeneous clinical manifestations requiring the formulation of an individualized plan of care based on collaboration between the pulmonologist, otolaryngologist, cardiologist, anesthesiologist, gastroenterologist, sleep medicine physician, geneticist, surgeon, oncologist, and respiratory therapist. A comprehensive multidisciplinary approach may optimize care and improve patient outcomes. With advances in CCHS management strategies, there is prolongation of survival necessitating high-quality multidisciplinary care for adults with CCHS.

Keywords: CCHS; congenital central hypoventilation syndrome; diaphragm pacing; multidisciplinary care; noninvasive ventilation; tracheostomy.

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Conflict of interest statement

The authors report no conflicts of interest in this work.

Figures

Figure 1
Figure 1
Multidisciplinary care for patients with congenital central hypoventilation syndrome.
Figure 2
Figure 2
Multidisciplinary management of patients with congenital central hypoventilation syndrome.
Figure 3
Figure 3
Algorithm for tracheostomy decannulation to noninvasive positive pressure ventilation in congenital central hypoventilation syndrome.
Figure 4
Figure 4
Diaphragm pacemaker system. Avery diaphragm pacemaker system and Spirit transmitter. Printed with permission by Avery biomedical devices (Commack, NY, USA).
Figure 5
Figure 5
Algorithm for tracheostomy decannulation to diaphragm pacing in congenital central hypoventilation syndrome.
See this image and copyright information in PMC

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