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MeSH Review


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Disease relevance of Hypoventilation

  • During spontaneous ventilation any hypoxemia must occur due to hypoventilation secondary to the CO2 exchange by the dialyzer and subsequent reduction in pulmonary CO2 exchange [1].
  • Germline mutations of predisposing gene(s) are suspected on the basis of rare familial cases and the association of NB with other genetically determined congenital malformations of neural crest-derived cells--namely, Hirschsprung disease (HSCR) and/or congenital central hypoventilation syndrome (CCHS) [2].
  • Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome [3].
  • We also show that Phox2b heterozygous mutants have an altered response to hypoxia and hypercapnia at birth and a decreased tyrosine hydroxylase expression in the petrosal chemosensory neurons, thus providing mechanistic insight into congenital central hypoventilation syndrome, which is associated with heterozygous mutations in PHOX2B [4].
  • It appears that small to moderate amounts of alcohol will not cause marked changes in oxygen tension or alveolar hypoventilation in patients with severe COPD who do not have marked hypercapnia [5].

Psychiatry related information on Hypoventilation

  • Sleep fragmentation is not a feature of sleep-related hypoventilation due to COPD or neuromusculoskeletal disorders, and an increase of the number of movement arousals (MA) is very suggestive of upper airway dysfunction and of potential success of CPAP [6].

High impact information on Hypoventilation

  • Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome [7].
  • Rnx deficiency results in congenital central hypoventilation [8].
  • BACKGROUND & AIMS: Congenital central hypoventilation syndrome, an unexplained disorder of the central control of breathing that may reflect widespread dysfunction of brainstem structures, is regarded as a form of neuro cristopathy [9].
  • Mutations, principally leading to polyalanine expansions within the protein, have been found in patients with congenital central hypoventilation syndrome (CCHS), the cardinal feature of which is an inability to breathe unassisted when asleep [3].
  • Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse) [10].

Chemical compound and disease context of Hypoventilation


Biological context of Hypoventilation


Anatomical context of Hypoventilation


Gene context of Hypoventilation


Analytical, diagnostic and therapeutic context of Hypoventilation


  1. Inert gas analysis of ventilation-perfusion matching during hemodialysis. Ralph, D.D., Ott, S.M., Sherrard, D.J., Hlastala, M.P. J. Clin. Invest. (1984) [Pubmed]
  2. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Trochet, D., Bourdeaut, F., Janoueix-Lerosey, I., Deville, A., de Pontual, L., Schleiermacher, G., Coze, C., Philip, N., Frébourg, T., Munnich, A., Lyonnet, S., Delattre, O., Amiel, J. Am. J. Hum. Genet. (2004) [Pubmed]
  3. Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. Cross, S.H., Morgan, J.E., Pattyn, A., West, K., McKie, L., Hart, A., Thaung, C., Brunet, J.F., Jackson, I.J. Hum. Mol. Genet. (2004) [Pubmed]
  4. Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways. Dauger, S., Pattyn, A., Lofaso, F., Gaultier, C., Goridis, C., Gallego, J., Brunet, J.F. Development (2003) [Pubmed]
  5. Moderate alcohol dose and chronic obstructive pulmonary disease: not a cause of hypoventilation. Sahn, S.A., Scoggin, C.H., Chernow, B. Arch. Intern. Med. (1979) [Pubmed]
  6. Movement arousals and sleep-related disordered breathing in adults. Collard, P., Dury, M., Delguste, P., Aubert, G., Rodenstein, D.O. Am. J. Respir. Crit. Care Med. (1996) [Pubmed]
  7. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Amiel, J., Laudier, B., Attié-Bitach, T., Trang, H., de Pontual, L., Gener, B., Trochet, D., Etchevers, H., Ray, P., Simonneau, M., Vekemans, M., Munnich, A., Gaultier, C., Lyonnet, S. Nat. Genet. (2003) [Pubmed]
  8. Rnx deficiency results in congenital central hypoventilation. Shirasawa, S., Arata, A., Onimaru, H., Roth, K.A., Brown, G.A., Horning, S., Arata, S., Okumura, K., Sasazuki, T., Korsmeyer, S.J. Nat. Genet. (2000) [Pubmed]
  9. Abnormal esophageal motility in children with congenital central hypoventilation syndrome. Faure, C., Viarme, F., Cargill, G., Navarro, J., Gaultier, C., Trang, H. Gastroenterology (2002) [Pubmed]
  10. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). de Pontual, L., Népote, V., Attié-Bitach, T., Al Halabiah, H., Trang, H., Elghouzzi, V., Levacher, B., Benihoud, K., Augé, J., Faure, C., Laudier, B., Vekemans, M., Munnich, A., Perricaudet, M., Guillemot, F., Gaultier, C., Lyonnet, S., Simonneau, M., Amiel, J. Hum. Mol. Genet. (2003) [Pubmed]
  11. Ectopic impulse generation in demyelinated axons: effects of PaCO2, pH, and disodium edetate. Burchiel, K.J. Ann. Neurol. (1981) [Pubmed]
  12. Control of breathing during methadone addiction. Santiago, T.V., Pugliese, A.C., Edelman, N.H. Am. J. Med. (1977) [Pubmed]
  13. Effects of theophylline on ventilatory poststimulus potentiation in patients with brain damage. Mitrouska, I., Kondili, E., Prinianakis, G., Siafakas, N., Georgopoulos, D. Am. J. Respir. Crit. Care Med. (2003) [Pubmed]
  14. Mother-daughter transmission of congenital central hypoventilation syndrome. Sritippayawan, S., Hamutcu, R., Kun, S.S., Ner, Z., Ponce, M., Keens, T.G. Am. J. Respir. Crit. Care Med. (2002) [Pubmed]
  15. Respiratory failure and hypoventilation secondary to neurosarcoidosis. Robinson, L.R., Brownsberger, R., Raghu, G. Am. J. Respir. Crit. Care Med. (1998) [Pubmed]
  16. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Trochet, D., O'Brien, L.M., Gozal, D., Trang, H., Nordenskjöld, A., Laudier, B., Svensson, P.J., Uhrig, S., Cole, T., Niemann, S., Munnich, A., Gaultier, C., Lyonnet, S., Amiel, J. Am. J. Hum. Genet. (2005) [Pubmed]
  17. The effects of localized hypoventilation on ventilation/perfusion (V/Q) ratios and gas exchange in the dog lung. Suggett, A.J., Barer, G.R., Mohammed, F.H., Gill, G.W. Clin. Sci. (1982) [Pubmed]
  18. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Jungbluth, H., Sewry, C.A., Brown, S.C., Nowak, K.J., Laing, N.G., Wallgren-Pettersson, C., Pelin, K., Manzur, A.Y., Mercuri, E., Dubowitz, V., Muntoni, F. Neuromuscul. Disord. (2001) [Pubmed]
  19. Maternal nicotine depresses eupneic ventilation of neonatal rats. St-John, W.M., Leiter, J.C. Neurosci. Lett. (1999) [Pubmed]
  20. Effects of varying concentrations of N2/O2 and He/O2 on exercise tolerance in man. Wilson, G.D., Welch, H.G. Medicine and science in sports and exercise. (1980) [Pubmed]
  21. Ventilatory responses to exercise in humans lacking ventilatory chemosensitivity. Shea, S.A., Andres, L.P., Shannon, D.C., Banzett, R.B. J. Physiol. (Lond.) (1993) [Pubmed]
  22. Hyper- and hypoventilation affects spinal motor neuron excitability during isoflurane anesthesia. Zhou, H.H., Turndorf, H. Anesth. Analg. (1998) [Pubmed]
  23. Intracisternal diethylpyrocarbonate inhibits central chemosensitivity in conscious rabbits. Nattie, E.E. Respiration physiology. (1986) [Pubmed]
  24. Slow ventilatory dynamics after isocapnic hypoxia and voluntary hyperventilation in humans: effects of isoflurane. Dahan, A., van Kleef, J., van den Elsen, M., Valk, R., Berkenbosch, A. British journal of anaesthesia. (1996) [Pubmed]
  25. Electrophysiologic alterations produced by hypoxia in the canine heart. Krause, P.C., Inoue, H., Zipes, D.P. Am. Heart J. (1989) [Pubmed]
  26. Glial cell line-derived neurotrophic factor (GDNF) is required for differentiation of pontine noradrenergic neurons and patterning of central respiratory output. Huang, L., Guo, H., Hellard, D.T., Katz, D.M. Neuroscience (2005) [Pubmed]
  27. Pbx3 deficiency results in central hypoventilation. Rhee, J.W., Arata, A., Selleri, L., Jacobs, Y., Arata, S., Onimaru, H., Cleary, M.L. Am. J. Pathol. (2004) [Pubmed]
  28. Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. Kanai, M., Numakura, C., Sasaki, A., Shirahata, E., Akaba, K., Hashimoto, M., Hasegawa, H., Shirasawa, S., Hayasaka, K. Tohoku J. Exp. Med. (2002) [Pubmed]
  29. Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways. Sakai, T., Wakizaka, A., Nirasawa, Y. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift für Kinderchirurgie. (2001) [Pubmed]
  30. Congenital hypoventilation and impaired hypoxic response in Nurr1 mutant mice. Nsegbe, E., Wallén-Mackenzie, A., Dauger, S., Roux, J.C., Shvarev, Y., Lagercrantz, H., Perlmann, T., Herlenius, E. J. Physiol. (Lond.) (2004) [Pubmed]
  31. Ventilatory support by tracheal gas insufflation and chest vibration during bronchoconstriction. Eckmann, D.M. Crit. Care Med. (2000) [Pubmed]
  32. Central venous blood composition and the pulmonary ventilation during hemodialysis. Faro, S., Stabile, C., Lopes dos Santos, M., Romaldini, H., Ratto, O.R. Nephron (1985) [Pubmed]
  33. Ventilatory response to CO2 re-breathing before and after nocturnal nasal intermittent positive pressure ventilation in patients with chronic alveolar hypoventilation. Dellborg, C., Olofson, J., Hamnegård, C.H., Skoogh, B.E., Bake, B. Respiratory medicine. (2000) [Pubmed]
  34. Hypoventilation and elevation of end-expiratory pressure release a substance which relaxes isolated arteries and disaggregates platelets in the presence of cyclooxygenase inhibitors. Herbaczynska-Cedro, K., Truskolaski, P., Huszczuk, A., Dusting, G.J. Prostaglandins (1981) [Pubmed]
  35. Acute myopathy after status asthmaticus: steroids, myorelaxants or carbon dioxide? Goh, A.Y., Chan, P.W. Respirology (1999) [Pubmed]
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