Table of Contents
Journal of Respiratory Medicine
Volume 2014, Article ID 856149, 8 pages
Review Article

Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges

1Faculty of Medicine, University of Maribor, Taborska 8, 2000 Maribor, Slovenia
2Faculty of Electrical Engineering and Computer Science, University of Maribor, Smetanova 17, 2000 Maribor, Slovenia

Received 27 October 2013; Revised 13 December 2013; Accepted 20 December 2013; Published 4 February 2014

Academic Editor: Alia Bazzy-Asaad

Copyright © 2014 Karin Ljubič et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Congenital central hypoventilation syndrome is a disorder predisposed by a paired-like homebox PHOX2B gene. A mutation in the PHOX2B gene is a requisite when diagnosing congenital central hypoventilation syndrome. This mutation is identified in 93–100% of diagnosed patients. The mutation regarding this disorder affects the sensors, the central controller, and the integration of the signals within the central nervous system. This, inter alia, leads to insufficient ventilation and a decrease in PaO2, as well as an increase in PaCO2. Affected children are at risk during and after the neonatal period. They suffer from hypoventilation periods which may be present whilst sleeping only or in more severe cases when both asleep and awake. It is important for clinicians to perform an early diagnosis of congenital central hypoventilation in order to prevent the deleterious effects of hypoxaemia, hypercapnia, and acidosis on the neurocognitive and cardiovascular functions. Patients need long-term management and appropriate ventilatory support for improving the qualities of their lives. This paper provides a detailed review of congenital central hypoventilation syndrome, a congenital disorder that is genetic in origin. We describe the genetic basis, the wider clinical picture, and those challenges during the diagnosis and management of patients with this condition.