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Respiratory arrest

MedGen UID:
57878
Concept ID:
C0162297
Pathologic Function
Synonyms: Breathing cessation; Pulmonary Arrest; Respiratory Arrest
SNOMED CT: Respiratory arrest (87317003)
 
HPO: HP:0005943

Definition

Cessation of breathing function. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRespiratory arrest

Conditions with this feature

Carnitine palmitoyl transferase II deficiency, severe infantile form
MedGen UID:
322211
Concept ID:
C1833511
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Perry syndrome
MedGen UID:
357007
Concept ID:
C1868594
Disease or Syndrome
The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B). Perry syndrome (the most common of the phenotypes associated with DCTN1) is characterized by parkinsonism, neuropsychiatric symptoms, hypoventilation, and weight loss. The mean age of onset in those with Perry syndrome is 49 years (range: 35-70 years), and the mean disease duration is five years (range: 2-14 years). In most affected persons, the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide.
Hyperekplexia 3
MedGen UID:
766202
Concept ID:
C3553288
Disease or Syndrome
Hereditary hyperekplexia may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year.\n\nThe signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get older, individuals with this condition may have a low tolerance for crowded places and loud noises. People with hereditary hyperekplexia who have epilepsy have the seizure disorder throughout their lives.\n\nOther signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy).\n\nHereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.
Very long chain acyl-CoA dehydrogenase deficiency
MedGen UID:
854382
Concept ID:
C3887523
Disease or Syndrome
Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life with hypertrophic or dilated cardiomyopathy, pericardial effusion, and arrhythmias, as well as hypotonia, hepatomegaly, and intermittent hypoglycemia. The hepatic or hypoketotic hypoglycemic form typically presents during early childhood with hypoketotic hypoglycemia and hepatomegaly, but without cardiomyopathy. The later-onset episodic myopathic form presents with intermittent rhabdomyolysis provoked by exercise, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycemia typically is not present at the time of symptoms.
3-methylglutaconic aciduria type 8
MedGen UID:
934617
Concept ID:
C4310650
Disease or Syndrome
MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950).
Combined oxidative phosphorylation defect type 15
MedGen UID:
1646555
Concept ID:
C4706313
Disease or Syndrome
A rare mitochondrial disease due to a defect in mitochondrial protein synthesis with onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported. Caused by homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.
KINSSHIP syndrome
MedGen UID:
1779339
Concept ID:
C5543317
Disease or Syndrome
KINSSHIP syndrome (KINS) is an autosomal dominant disorder characterized by a recognizable pattern of anomalies including developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive (summary by Voisin et al., 2021).

Professional guidelines

PubMed

Lavonas EJ, Akpunonu PD, Arens AM, Babu KM, Cao D, Hoffman RS, Hoyte CO, Mazer-Amirshahi ME, Stolbach A, St-Onge M, Thompson TM, Wang GS, Hoover AV, Drennan IR; American Heart Association
Circulation 2023 Oct 17;148(16):e149-e184. Epub 2023 Sep 18 doi: 10.1161/CIR.0000000000001161. PMID: 37721023
D'Amato G, Vitale C, Lanza M, Sanduzzi A, Molino A, Mormile M, Vatrella A, Bilò MB, Antonicelli L, Bresciani M, Micheletto C, Vaghi A, D'Amato M
Eur Ann Allergy Clin Immunol 2016 Jul;48(4):116-22. PMID: 27425166
Mainerova B, Prasko J, Latalova K, Axmann K, Cerna M, Horacek R, Bradacova R
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2015 Mar;159(1):44-52. Epub 2013 Dec 11 doi: 10.5507/bp.2013.089. PMID: 24399242

Recent clinical studies

Etiology

Egbuta C, Easley RB
Paediatr Anaesth 2022 Feb;32(2):354-362. Epub 2021 Dec 15 doi: 10.1111/pan.14374. PMID: 34882910
Tan A, Nolan JA
Paediatr Anaesth 2022 Jan;32(1):4-9. Epub 2021 Nov 14 doi: 10.1111/pan.14319. PMID: 34714957
Dogrul BN, Kiliccalan I, Asci ES, Peker SC
Chin J Traumatol 2020 Jun;23(3):125-138. Epub 2020 Apr 20 doi: 10.1016/j.cjtee.2020.04.003. PMID: 32417043Free PMC Article
D'Amato G, Vitale C, Lanza M, Sanduzzi A, Molino A, Mormile M, Vatrella A, Bilò MB, Antonicelli L, Bresciani M, Micheletto C, Vaghi A, D'Amato M
Eur Ann Allergy Clin Immunol 2016 Jul;48(4):116-22. PMID: 27425166
Wüthrich B, Ballmer-Weber BK
Allergy 2001;56 Suppl 67:102-4. doi: 10.1034/j.1398-9995.2001.00930.x. PMID: 11298022

Diagnosis

Mashour GA, Lee U, Pal D, Li D
Anesthesiology 2024 Jun 1;140(6):1221-1231. doi: 10.1097/ALN.0000000000004970. PMID: 38603803Free PMC Article
Dogrul BN, Kiliccalan I, Asci ES, Peker SC
Chin J Traumatol 2020 Jun;23(3):125-138. Epub 2020 Apr 20 doi: 10.1016/j.cjtee.2020.04.003. PMID: 32417043Free PMC Article
Commins SP
Med Clin North Am 2017 May;101(3):521-536. Epub 2017 Mar 2 doi: 10.1016/j.mcna.2016.12.003. PMID: 28372711Free PMC Article
D'Amato G, Vitale C, Lanza M, Sanduzzi A, Molino A, Mormile M, Vatrella A, Bilò MB, Antonicelli L, Bresciani M, Micheletto C, Vaghi A, D'Amato M
Eur Ann Allergy Clin Immunol 2016 Jul;48(4):116-22. PMID: 27425166
Roberts DJ, Leigh-Smith S, Faris PD, Blackmore C, Ball CG, Robertson HL, Dixon E, James MT, Kirkpatrick AW, Kortbeek JB, Stelfox HT
Ann Surg 2015 Jun;261(6):1068-78. doi: 10.1097/SLA.0000000000001073. PMID: 25563887

Therapy

Mick NW, Williams RJ
Emerg Med Clin North Am 2020 Nov;38(4):819-839. Epub 2020 Sep 9 doi: 10.1016/j.emc.2020.06.007. PMID: 32981620
Lavonas EJ, Dezfulian C
Crit Care Clin 2020 Oct;36(4):753-769. doi: 10.1016/j.ccc.2020.07.006. PMID: 32892827
Commins SP
Med Clin North Am 2017 May;101(3):521-536. Epub 2017 Mar 2 doi: 10.1016/j.mcna.2016.12.003. PMID: 28372711Free PMC Article
D'Amato G, Vitale C, Lanza M, Sanduzzi A, Molino A, Mormile M, Vatrella A, Bilò MB, Antonicelli L, Bresciani M, Micheletto C, Vaghi A, D'Amato M
Eur Ann Allergy Clin Immunol 2016 Jul;48(4):116-22. PMID: 27425166
Roberts DJ, Leigh-Smith S, Faris PD, Blackmore C, Ball CG, Robertson HL, Dixon E, James MT, Kirkpatrick AW, Kortbeek JB, Stelfox HT
Ann Surg 2015 Jun;261(6):1068-78. doi: 10.1097/SLA.0000000000001073. PMID: 25563887

Prognosis

Özgüroğlu M, Kilickap S, Sezer A, Gümüş M, Bondarenko I, Gogishvili M, Nechaeva M, Schenker M, Cicin I, Ho GF, Kulyaba Y, Zyuhal K, Scheusan RI, Garassino MC, He X, Kaul M, Okoye E, Li Y, Li S, Pouliot JF, Seebach F, Lowy I, Gullo G, Rietschel P
Lancet Oncol 2023 Sep;24(9):989-1001. Epub 2023 Aug 14 doi: 10.1016/S1470-2045(23)00329-7. PMID: 37591293
Egbuta C, Easley RB
Paediatr Anaesth 2022 Feb;32(2):354-362. Epub 2021 Dec 15 doi: 10.1111/pan.14374. PMID: 34882910
Mick NW, Williams RJ
Emerg Med Clin North Am 2020 Nov;38(4):819-839. Epub 2020 Sep 9 doi: 10.1016/j.emc.2020.06.007. PMID: 32981620
D'Amato G, Vitale C, Lanza M, Sanduzzi A, Molino A, Mormile M, Vatrella A, Bilò MB, Antonicelli L, Bresciani M, Micheletto C, Vaghi A, D'Amato M
Eur Ann Allergy Clin Immunol 2016 Jul;48(4):116-22. PMID: 27425166
Busl KM, Greer DM
NeuroRehabilitation 2010;26(1):5-13. doi: 10.3233/NRE-2010-0531. PMID: 20130351

Clinical prediction guides

Özgüroğlu M, Kilickap S, Sezer A, Gümüş M, Bondarenko I, Gogishvili M, Nechaeva M, Schenker M, Cicin I, Ho GF, Kulyaba Y, Zyuhal K, Scheusan RI, Garassino MC, He X, Kaul M, Okoye E, Li Y, Li S, Pouliot JF, Seebach F, Lowy I, Gullo G, Rietschel P
Lancet Oncol 2023 Sep;24(9):989-1001. Epub 2023 Aug 14 doi: 10.1016/S1470-2045(23)00329-7. PMID: 37591293
Xu G, Mihaylova T, Li D, Tian F, Farrehi PM, Parent JM, Mashour GA, Wang MM, Borjigin J
Proc Natl Acad Sci U S A 2023 May 9;120(19):e2216268120. Epub 2023 May 1 doi: 10.1073/pnas.2216268120. PMID: 37126719Free PMC Article
Lavonas EJ, Dezfulian C
Crit Care Clin 2020 Oct;36(4):753-769. doi: 10.1016/j.ccc.2020.07.006. PMID: 32892827
D'Amato G, Vitale C, Lanza M, Sanduzzi A, Molino A, Mormile M, Vatrella A, Bilò MB, Antonicelli L, Bresciani M, Micheletto C, Vaghi A, D'Amato M
Eur Ann Allergy Clin Immunol 2016 Jul;48(4):116-22. PMID: 27425166
Roberts DJ, Leigh-Smith S, Faris PD, Blackmore C, Ball CG, Robertson HL, Dixon E, James MT, Kirkpatrick AW, Kortbeek JB, Stelfox HT
Ann Surg 2015 Jun;261(6):1068-78. doi: 10.1097/SLA.0000000000001073. PMID: 25563887

Recent systematic reviews

Normansell R, Sayer B, Waterson S, Dennett EJ, Del Forno M, Dunleavy A
Cochrane Database Syst Rev 2018 Jun 25;6(6):CD002741. doi: 10.1002/14651858.CD002741.pub2. PMID: 29938789Free PMC Article
Leeies M, Flynn E, Turgeon AF, Paunovic B, Loewen H, Rabbani R, Abou-Setta AM, Ferguson ND, Zarychanski R
Syst Rev 2017 Oct 16;6(1):202. doi: 10.1186/s13643-017-0593-5. PMID: 29037221Free PMC Article
Huf G, Alexander J, Gandhi P, Allen MH
Cochrane Database Syst Rev 2016 Nov 25;11(11):CD005146. doi: 10.1002/14651858.CD005146.pub3. PMID: 27885664Free PMC Article
Chapman SM, Wray J, Oulton K, Peters MJ
Resuscitation 2016 Dec;109:87-109. Epub 2016 Aug 3 doi: 10.1016/j.resuscitation.2016.07.230. PMID: 27496259
Roberts DJ, Leigh-Smith S, Faris PD, Blackmore C, Ball CG, Robertson HL, Dixon E, James MT, Kirkpatrick AW, Kortbeek JB, Stelfox HT
Ann Surg 2015 Jun;261(6):1068-78. doi: 10.1097/SLA.0000000000001073. PMID: 25563887

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