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Hyperventilation

MedGen UID:
9377
Concept ID:
C0020578
Finding
Synonym: Hyperventilations
SNOMED CT: Hyperventilation (68978004); Overbreathing (68978004); Hyperventilating (68978004); HV - Hyperventilation (68978004)
 
HPO: HP:0002883

Definition

Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. [from HPO]

Conditions with this feature

Fructose-biphosphatase deficiency
MedGen UID:
42106
Concept ID:
C0016756
Disease or Syndrome
Fructose-1,6-bisphosphatase (FBP1) deficiency is characterized by episodic acute crises of lactic acidosis and ketotic hypoglycemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Acute crises are most common in early childhood; nearly half of affected children have hypoglycemia in the neonatal period (especially the first 4 days) resulting from deficient glycogen stores. Factors known to trigger episodes include fever, fasting, decreased oral intake, vomiting, infections, and ingestion of large amounts of fructose. In untreated individuals, symptoms worsen progressively as continued catabolism leads to multiorgan failure (especially liver, brain, and later heart). Morbidity and mortality are high. Sepsis, blindness, and Reye syndrome-like presentation have been reported. In between acute episodes, children are asymptomatic. While the majority of affected children have normal growth and psychomotor development, a few have intellectual disability, presumably due to early and prolonged hypoglycemia.
Pallister-Killian syndrome
MedGen UID:
120540
Concept ID:
C0265449
Disease or Syndrome
Pallister-Killian syndrome (PKS) is a dysmorphic condition involving most organ systems, but is also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).
Holocarboxylase synthetase deficiency
MedGen UID:
120653
Concept ID:
C0268581
Disease or Syndrome
Holocarboxylase synthetase deficiency, a biotin-responsive multiple carboxylase deficiency (MCD), is characterized by metabolic acidosis, lethargy, hypotonia, convulsions, and dermatitis. Most patients present in the newborn or early infantile period, but some become symptomatic in the later infantile period (summary by Suzuki et al., 2005). Also see biotinidase deficiency (253260), another form of MCD with a later onset. Care must be taken to differentiate the inherited multiple carboxylase deficiencies from acquired biotin deficiencies, such as those that develop after excessive dietary intake of avidin, an egg-white glycoprotein that binds specifically and essentially irreversibly to biotin (Sweetman et al., 1981) or prolonged parenteral alimentation without supplemental biotin (Mock et al., 1981).
Joubert syndrome 8
MedGen UID:
436772
Concept ID:
C2676771
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Cortical dysplasia-focal epilepsy syndrome
MedGen UID:
413258
Concept ID:
C2750246
Disease or Syndrome
Pitt-Hopkins-like syndrome-1 (PTHSL1) is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, severe speech impairment or regression, and behavioral abnormalities. Most patients have onset of seizures within the first years of life. Some patients may have cortical dysplasia on brain imaging (summary by Smogavec et al., 2016).
Pitt-Hopkins-like syndrome 2
MedGen UID:
482109
Concept ID:
C3280479
Disease or Syndrome
Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.
Joubert syndrome 17
MedGen UID:
766178
Concept ID:
C3553264
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Intellectual disability, autosomal dominant 54
MedGen UID:
1614787
Concept ID:
C4540484
Mental or Behavioral Dysfunction
Neurodevelopmental disorder with poor language and loss of hand skills
MedGen UID:
1637031
Concept ID:
C4693546
Disease or Syndrome
NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT; 312750) (summary by Yoo et al., 2017).
Intellectual disability, autosomal dominant 57
MedGen UID:
1648280
Concept ID:
C4748003
Mental or Behavioral Dysfunction
MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).
Developmental and epileptic encephalopathy, 2
MedGen UID:
1663579
Concept ID:
C4750718
Disease or Syndrome
Developmental and epileptic encephalopathy-2 (DEE2) is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in impaired intellectual development and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (312750), but DEE2 is considered to be a distinct entity (summary by Fehr et al., 2013). For a discussion of genetic heterogeneity of DEE, see 308350.
Mitochondrial complex 3 deficiency, nuclear type 10
MedGen UID:
1719382
Concept ID:
C5394051
Disease or Syndrome

Professional guidelines

PubMed

Schizodimos T, Soulountsi V, Iasonidou C, Kapravelos N
J Anesth 2020 Oct;34(5):741-757. Epub 2020 May 21 doi: 10.1007/s00540-020-02795-7. PMID: 32440802Free PMC Article
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Neurocrit Care 2020 Jun;32(3):647-666. doi: 10.1007/s12028-020-00959-7. PMID: 32227294Free PMC Article
Freeman WD
Continuum (Minneap Minn) 2015 Oct;21(5 Neurocritical Care):1299-323. doi: 10.1212/CON.0000000000000235. PMID: 26426232

Recent clinical studies

Etiology

Ebihara A, Kitahara A, Iwamoto T, Kuwahira I
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de Arriba-Arnau A, Dalmau A, Soria V, Salvat-Pujol N, Ribes C, Sánchez-Allueva A, Menchón JM, Urretavizcaya M
J Affect Disord 2017 Aug 1;217:225-232. Epub 2017 Apr 13 doi: 10.1016/j.jad.2017.04.007. PMID: 28431383
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Diagnosis

Rana M, Steenari M, Shrey D
Neuropediatrics 2023 Dec;54(6):359-364. Epub 2023 Oct 9 doi: 10.1055/s-0043-1774808. PMID: 37813123
Brodtkorb E
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Shim C, Williams MH Jr
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Therapy

Santino TA, Chaves GS, Freitas DA, Fregonezi GA, Mendonça KM
Cochrane Database Syst Rev 2020 Mar 25;3(3):CD001277. doi: 10.1002/14651858.CD001277.pub4. PMID: 32212422Free PMC Article
Sahuquillo J, Dennis JA
Cochrane Database Syst Rev 2019 Dec 31;12(12):CD003983. doi: 10.1002/14651858.CD003983.pub3. PMID: 31887790Free PMC Article
Indranada AM, Mullen SA, Duncan R, Berlowitz DJ, Kanaan RAA
Seizure 2018 Jul;59:108-115. Epub 2018 May 19 doi: 10.1016/j.seizure.2018.05.007. PMID: 29787922
Chesnut RM, Temkin N, Carney N, Dikmen S, Rondina C, Videtta W, Petroni G, Lujan S, Pridgeon J, Barber J, Machamer J, Chaddock K, Celix JM, Cherner M, Hendrix T; Global Neurotrauma Research Group
N Engl J Med 2012 Dec 27;367(26):2471-81. Epub 2012 Dec 12 doi: 10.1056/NEJMoa1207363. PMID: 23234472Free PMC Article
Cowley DS, Roy-Byrne PP
Am J Med 1987 Nov;83(5):929-37. doi: 10.1016/0002-9343(87)90654-1. PMID: 2890301

Prognosis

Singh J, Zaballa K, Kok H, Fitzgerald N, Uy C, Nuth D, Castro C, Irving C, Waters K, Fitzgerald DA
Paediatr Respir Rev 2022 Sep;43:78-84. Epub 2022 Mar 8 doi: 10.1016/j.prrv.2022.03.001. PMID: 35459626
Das JC
Mymensingh Med J 2014 Apr;23(2):406-11. PMID: 24858177
Chesnut RM, Temkin N, Carney N, Dikmen S, Rondina C, Videtta W, Petroni G, Lujan S, Pridgeon J, Barber J, Machamer J, Chaddock K, Celix JM, Cherner M, Hendrix T; Global Neurotrauma Research Group
N Engl J Med 2012 Dec 27;367(26):2471-81. Epub 2012 Dec 12 doi: 10.1056/NEJMoa1207363. PMID: 23234472Free PMC Article
Singhi SC, Tiwari L
Indian J Pediatr 2009 May;76(5):519-29. Epub 2009 May 24 doi: 10.1007/s12098-009-0137-7. PMID: 19466385
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Clinical prediction guides

Deenstra DD, van Helvoort HAC, Djamin RS, van Zelst C, In't Veen JCCM, Antons JC, Spruit MA, van 't Hul AJ
J Asthma 2022 Aug;59(8):1560-1567. Epub 2021 Aug 6 doi: 10.1080/02770903.2021.1959926. PMID: 34293267
Indranada AM, Mullen SA, Duncan R, Berlowitz DJ, Kanaan RAA
Seizure 2018 Jul;59:108-115. Epub 2018 May 19 doi: 10.1016/j.seizure.2018.05.007. PMID: 29787922
Gómez-Arnau J, de Arriba-Arnau A, Correas-Lauffer J, Urretavizcaya M
Gen Hosp Psychiatry 2018 Jan-Feb;50:54-62. Epub 2017 Sep 23 doi: 10.1016/j.genhosppsych.2017.09.003. PMID: 29054017
Boulding R, Stacey R, Niven R, Fowler SJ
Eur Respir Rev 2016 Sep;25(141):287-94. doi: 10.1183/16000617.0088-2015. PMID: 27581828Free PMC Article
Meuret AE, Ritz T
Int J Psychophysiol 2010 Oct;78(1):68-79. Epub 2010 May 25 doi: 10.1016/j.ijpsycho.2010.05.006. PMID: 20685222Free PMC Article

Recent systematic reviews

Santino TA, Chaves GS, Freitas DA, Fregonezi GA, Mendonça KM
Cochrane Database Syst Rev 2020 Mar 25;3(3):CD001277. doi: 10.1002/14651858.CD001277.pub4. PMID: 32212422Free PMC Article
Sahuquillo J, Dennis JA
Cochrane Database Syst Rev 2019 Dec 31;12(12):CD003983. doi: 10.1002/14651858.CD003983.pub3. PMID: 31887790Free PMC Article
Indranada AM, Mullen SA, Duncan R, Berlowitz DJ, Kanaan RAA
Seizure 2018 Jul;59:108-115. Epub 2018 May 19 doi: 10.1016/j.seizure.2018.05.007. PMID: 29787922
Bruurs ML, van der Giessen LJ, Moed H
Respir Med 2013 Apr;107(4):483-94. Epub 2013 Jan 18 doi: 10.1016/j.rmed.2012.12.017. PMID: 23333065
McGuire W
BMJ Clin Evid 2007 Nov 7;2007 PMID: 19450354Free PMC Article

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