Central Congenital Hypoventilation Syndrome: Changing Face of a Less Mysterious but More Complex Genetic Disorder

Madeleine Grigg-Damberger; Audrey Wells

doi:10.1055/s-0029-1222440

Seminars in Respiratory and Critical Care Medicine, Inhaltsverzeichnis

Semin Respir Crit Care Med 2009; 30(3): 262-274
DOI: 10.1055/s-0029-1222440

Central Congenital Hypoventilation Syndrome: Changing Face of a Less Mysterious but More Complex Genetic Disorder

Madeleine Grigg-Damberger¹ , Audrey Wells¹

¹University of New Mexico Sleep Disorders Center, Albuquerque, New Mexico

Abstract

ABSTRACT

Central congenital hypoventilation syndrome (CCHS) is a disorder in which affected individuals fail to breathe during sleep despite progressive hypercapnia and hypoxia. Discovery of the genetic link between PHOX2B gene mutations and CCHS represents a breakthrough in the diagnosis of CCHS, identification of patients with late-onset central hyperventilation syndrome (LO-CHS), association of mutated alleles with disease severity, and clues to the pathophysiology responsible for the disorder. CCHS is a neurocristopathy, and affected individuals are more likely to have disorders of the autonomic nervous system, Hirschsprung disease, and neural crest tumors. Most CCHS patients harbor sporadic mutations, but identification of an affected individual should trigger evaluation of family members because inherited mutations are transmitted in an autosomal dominant fashion. Management of CCHS and LO-CHS is primarily directed at optimizing respiratory status, most often with nighttime mechanical ventilatory support and monitoring with polysomnography. Multidisciplinary care is also necessary to promote better outcomes and long-term survival.

KEYWORDS

Congenital central hypoventilation syndrome - alveolar hypoventilation - PHOX2B - hypercapnea - hypoxia - autonomic dysregulation - Hirschsprung disease - neuroblastoma - Ondine curse

Volltext

Referenzen

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Madeleine Grigg-DambergerM.D.

University of New Mexico Sleep Disorders Center, MS C 10 5620, 1 University of New Mexico

Albuquerque, NM 87131-0001

eMail: mgriggd@salud.unm