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Congenital central hypoventilation syndrome: diagnostic and management challenges

Authors Kasi A, Perez I, Kun S, Keens T

Received 18 March 2016

Accepted for publication 24 June 2016

Published 18 August 2016 Volume 2016:7 Pages 99—107

DOI https://doi.org/10.2147/PHMT.S95054

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Lucy Goodman

Peer reviewer comments 3

Editor who approved publication: Professor Laurens Holmes, Jr


Ajay S Kasi,1 Iris A Perez,1,2 Sheila S Kun,1 Thomas G Keens1,2

1Division of Pediatric Pulmonology and Sleep Medicine, Children’s Hospital Los Angeles, 2Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA

Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder with failure of central control of breathing and of the autonomic nervous system function due to a mutation in the paired-like homeobox 2B (PHOX2B) gene. Affected patients have absent or negligible ventilatory sensitivity to hypercapnia and hypoxemia, and they do not exhibit signs of respiratory distress when challenged with hypercarbia or hypoxia. The diagnosis of CCHS must be confirmed with PHOX2B gene mutation. Generally, the PHOX2B mutation genotype can aid in anticipating the severity of the phenotype. They require ventilatory support for life. Home assisted ventilation options include positive pressure ventilation via tracheostomy, noninvasive positive pressure ventilation, and diaphragm pacing via phrenic nerve stimulation, but each strategy has its associated limitations and challenges. Since all the clinical manifestations of CCHS may not manifest at birth, periodic monitoring and early intervention are necessary to prevent complications and improve outcome. Life-threatening arrhythmias can manifest at different ages and a normal cardiac monitoring study does not exclude future occurrences leading to the dilemma of timing and frequency of cardiac rhythm monitoring and treatment. Given the rare incidence of CCHS, most health care professionals are not experienced with managing CCHS patients, particularly those with diaphragm pacers. With early diagnosis and advances in home mechanical ventilation and monitoring strategies, many CCHS children are surviving into adulthood presenting new challenges in their care.

Keywords: congenital central hypoventilation syndrome, PHOX2B, home mechanical ventilation, diaphragm pacing, CCHS

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