Rohan S Bellary, Michael Orangias, Ronald Morton, Sarah Khayat, Egambaram Senthilvel
Congenital central hypoventilation syndrome (CCHS) is characterized by absent ventilatory responses to hypercapnia and hypoxemia due to paired-like homeobox 2B (PHOX2B) mutations, requiring lifelong nocturnal ventilatory support. Out of the four current management methods, biphasic cuirass ventilation (BCV) is the only one that avoids the use of a face-mounted interface. We present an 18-year-old man with PHOX2B-confirmed CCHS who required perioperative bridging from home average volume-assured pressure support (AVAPS) to BCV following septorhinoplasty with rib cartilage grafting, which precluded mask usage for 6-8 weeks. BCV was used for two months during the perioperative period, and home AVAPS was eventually resumed. The case was complicated by perioperative sinus pauses requiring leadless pacemaker implantation. This case demonstrates that BCV provides effective nocturnal ventilatory support in CCHS in settings when mask interfaces are contraindicated and highlights the need for postoperative cardiac monitoring in PHOX2B mutation carriers.