Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach

Abstract

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 Leu1 1Department of Pediatrics, Division of Pediatric Pulmonology and Sleep Medicine, Emory University, Children’s Healthcare of Atlanta, Atlanta, GA, USA; 2Department of Human Genetics, Emory University, Children’s Healthcare of Atlanta, Atlanta, GA, USA; 3Division of Pediatric Anesthesiology, Emory University, Children’s Healthcare of Atlanta, Atlanta, GA, USA; 4Department of Pediatrics, Division of Pediatric Cardiology, Emory University, Children’s Healthcare of Atlanta, Atlanta, GA, USA; 5Division of Pediatric Otorhinolaryngology, Emory University, Children’s Healthcare of Atlanta, Atlanta, GA, USA; 6Department of Pediatrics, Division of Pediatric Hematology and Oncology, Emory University, Children’s Healthcare of Atlanta, Atlanta, GA, USA; 7Division of Pediatric Surgery, Emory University, Children’s Healthcare of Atlanta, Atlanta, GA, USACorrespondence: Ajay S Kasi, Department of Pediatrics, Division of Pediatric Pulmonology and Sleep Medicine, Emory University, Children’s Healthcare of Atlanta, 1400 Tullie Road NE, Atlanta, GA, 30329, USA, Tel [phone], Fax [phone], Email [email protected]: 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: congenital central hypoventilation syndrome, multidisciplinary care, diaphragm pacing, tracheostomy, noninvasive ventilation, CCHS

Keywords

• congenital central hypoventilation syndrome
• multidisciplinary care
• diaphragm pacing
• tracheostomy
• noninvasive ventilation
• cchs