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Hypoventilation

MedGen UID:
469022
Concept ID:
C3203358
Pathologic Function
Synonym: Hypoventilations
SNOMED CT: Alveolar hypoventilation (15993004); Hypoventilation (31515003)
 
HPO: HP:0002791

Definition

A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). [from HPO]

Conditions with this feature

Duchenne muscular dystrophy
MedGen UID:
3925
Concept ID:
C0013264
Disease or Syndrome
The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM.
Extreme obesity with alveolar hypoventilation
MedGen UID:
18472
Concept ID:
C0031880
Disease or Syndrome
Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.
Prader-Willi syndrome
MedGen UID:
46057
Concept ID:
C0032897
Disease or Syndrome
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present.
Progressive sclerosing poliodystrophy
MedGen UID:
60012
Concept ID:
C0205710
Disease or Syndrome
POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined long before their molecular basis was known. Most affected individuals have some, but not all, of the features of a given phenotype; nonetheless, the following nomenclature can assist the clinician in diagnosis and management. Onset of the POLG-related disorders ranges from infancy to late adulthood. Alpers-Huttenlocher syndrome (AHS), one of the most severe phenotypes, is characterized by childhood-onset progressive and ultimately severe encephalopathy with intractable epilepsy and hepatic failure. Childhood myocerebrohepatopathy spectrum (MCHS) presents between the first few months of life and about age three years with developmental delay or dementia, lactic acidosis, and a myopathy with failure to thrive. Other findings can include liver failure, renal tubular acidosis, pancreatitis, cyclic vomiting, and hearing loss. Myoclonic epilepsy myopathy sensory ataxia (MEMSA) now describes the spectrum of disorders with epilepsy, myopathy, and ataxia without ophthalmoplegia. MEMSA now includes the disorders previously described as spinocerebellar ataxia with epilepsy (SCAE). The ataxia neuropathy spectrum (ANS) includes the phenotypes previously referred to as mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO). About 90% of persons in the ANS have ataxia and neuropathy as core features. Approximately two thirds develop seizures and almost one half develop ophthalmoplegia; clinical myopathy is rare. Autosomal recessive progressive external ophthalmoplegia (arPEO) is characterized by progressive weakness of the extraocular eye muscles resulting in ptosis and ophthalmoparesis (or paresis of the extraocular muscles) without associated systemic involvement; however, caution is advised because many individuals with apparently isolated arPEO at the onset develop other manifestations of POLG-related disorders over years or decades. Of note, in the ANS spectrum the neuropathy commonly precedes the onset of PEO by years to decades. Autosomal dominant progressive external ophthalmoplegia (adPEO) typically includes a generalized myopathy and often variable degrees of sensorineural hearing loss, axonal neuropathy, ataxia, depression, parkinsonism, hypogonadism, and cataracts (in what has been called "chronic progressive external ophthalmoplegia plus," or "CPEO+").
MOGS-congenital disorder of glycosylation
MedGen UID:
342954
Concept ID:
C1853736
Disease or Syndrome
A form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate, retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).
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.
Congenital myasthenic syndrome 20
MedGen UID:
934661
Concept ID:
C4310694
Disease or Syndrome
Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by Bauche et al., 2016). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Mitochondrial complex 1 deficiency, nuclear type 9
MedGen UID:
1648447
Concept ID:
C4748767
Disease or Syndrome
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
MedGen UID:
1672905
Concept ID:
C5193124
Disease or Syndrome
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) is an autosomal recessive neurodevelopmental syndrome characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties, including hypoventilation, and sleep apnea. Patients may have significant breathing problems during respiratory infections that may lead to early death (summary by Rahikkala et al., 2019).
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
MedGen UID:
1794173
Concept ID:
C5561963
Disease or Syndrome
Congenital central hypoventilation syndrome-2 and autonomic dysfunction (CCHS2) is an autosomal recessive disorder characterized by shallow breathing and apneic spells apparent in the neonatal period. Affected infants require mechanical ventilation due to impaired ventilatory response to hypercapnia, as well as tube feeding due to poor swallowing, aspiration, and gastrointestinal dysmotility. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation. Although mild global developmental delay with learning difficulties and seizures were present in the single family reported, it was unclear if these features were related to the hypoventilation phenotype (Spielmann et al., 2017). For a discussion of genetic heterogeneity of CCHS, see CCHS1 (209880).
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
MedGen UID:
1794285
Concept ID:
C5562075
Disease or Syndrome
Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD.
Rabin-Pappas syndrome
MedGen UID:
1824042
Concept ID:
C5774269
Disease or Syndrome
Rabin-Pappas syndrome (RAPAS) is a multisystemic disorder characterized by severely impaired global development apparent from infancy, feeding difficulties with failure to thrive, small head circumference, and dysmorphic facial features. Affected individuals have impaired intellectual development and hypotonia; they do not achieve walking or meaningful speech. Other neurologic findings may include seizures, hearing loss, ophthalmologic defects, and brain imaging abnormalities. There is variable involvement of other organ systems, including skeletal, genitourinary, cardiac, and possibly endocrine (Rabin et al., 2020).
Mitochondrial complex IV deficiency, nuclear type 23
MedGen UID:
1840958
Concept ID:
C5830322
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 23 (MC4DN23) is an autosomal recessive disorder characterized by infantile-onset encephalopathy (Rius et al., 2022). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.

Professional guidelines

PubMed

Do C, Vasquez PC, Soleimani M
Am J Kidney Dis 2022 Oct;80(4):536-551. Epub 2022 May 5 doi: 10.1053/j.ajkd.2021.12.016. PMID: 35525634
Garner O, Ramey JS, Hanania NA
Chest 2022 Oct;162(4):747-756. Epub 2022 Feb 23 doi: 10.1016/j.chest.2022.02.029. PMID: 35218742
Trang H, Samuels M, Ceccherini I, Frerick M, Garcia-Teresa MA, Peters J, Schoeber J, Migdal M, Markstrom A, Ottonello G, Piumelli R, Estevao MH, Senecic-Cala I, Gnidovec-Strazisar B, Pfleger A, Porto-Abal R, Katz-Salamon M
Orphanet J Rare Dis 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2. PMID: 32958024Free PMC Article

Recent clinical studies

Etiology

Dupuy-McCauley K, Selim B
Sleep Med Clin 2020 Dec;15(4):471-483. Epub 2020 Oct 6 doi: 10.1016/j.jsmc.2020.08.008. PMID: 33131658
Harvengt J, Gernay C, Mastouri M, Farhat N, Lebrethon MC, Seghaye MC, Bours V
J Clin Endocrinol Metab 2020 Jul 1;105(7) doi: 10.1210/clinem/dgaa247. PMID: 32407531
McNicholas WT, Hansson D, Schiza S, Grote L
Eur Respir Rev 2019 Sep 30;28(153) Epub 2019 Sep 25 doi: 10.1183/16000617.0064-2019. PMID: 31554703Free PMC Article
Benditt JO
Respir Care 2019 Jun;64(6):679-688. doi: 10.4187/respcare.06827. PMID: 31110036
Masa JF, Pépin JL, Borel JC, Mokhlesi B, Murphy PB, Sánchez-Quiroga MÁ
Eur Respir Rev 2019 Mar 31;28(151) Epub 2019 Mar 14 doi: 10.1183/16000617.0097-2018. PMID: 30872398Free PMC Article

Diagnosis

Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
Trang H, Samuels M, Ceccherini I, Frerick M, Garcia-Teresa MA, Peters J, Schoeber J, Migdal M, Markstrom A, Ottonello G, Piumelli R, Estevao MH, Senecic-Cala I, Gnidovec-Strazisar B, Pfleger A, Porto-Abal R, Katz-Salamon M
Orphanet J Rare Dis 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2. PMID: 32958024Free PMC Article
McNicholas WT, Hansson D, Schiza S, Grote L
Eur Respir Rev 2019 Sep 30;28(153) Epub 2019 Sep 25 doi: 10.1183/16000617.0064-2019. PMID: 31554703Free PMC Article
Masa JF, Pépin JL, Borel JC, Mokhlesi B, Murphy PB, Sánchez-Quiroga MÁ
Eur Respir Rev 2019 Mar 31;28(151) Epub 2019 Mar 14 doi: 10.1183/16000617.0097-2018. PMID: 30872398Free PMC Article
Mohammadieh A, Sutherland K, Cistulli PA
Intern Med J 2017 Nov;47(11):1241-1247. doi: 10.1111/imj.13606. PMID: 29105265

Therapy

Kaw R, Wong J, Mokhlesi B
Anesth Analg 2021 May 1;132(5):1265-1273. doi: 10.1213/ANE.0000000000005352. PMID: 33857968
Allardet-Servent J, Sicard G, Metz V, Chiche L
Rev Med Interne 2019 Oct;40(10):670-676. Epub 2019 May 1 doi: 10.1016/j.revmed.2019.04.003. PMID: 31054779
Boldrini R, Fasano L, Nava S
Curr Opin Crit Care 2012 Feb;18(1):48-53. doi: 10.1097/MCC.0b013e32834ebd71. PMID: 22186215
Khan SR, Strollo PJ
Semin Respir Crit Care Med 2009 Jun;30(3):359-66. Epub 2009 May 18 doi: 10.1055/s-0029-1222444. PMID: 19452396
Pergolizzi J, Böger RH, Budd K, Dahan A, Erdine S, Hans G, Kress HG, Langford R, Likar R, Raffa RB, Sacerdote P
Pain Pract 2008 Jul-Aug;8(4):287-313. Epub 2008 May 23 doi: 10.1111/j.1533-2500.2008.00204.x. PMID: 18503626

Prognosis

Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
McNicholas WT, Hansson D, Schiza S, Grote L
Eur Respir Rev 2019 Sep 30;28(153) Epub 2019 Sep 25 doi: 10.1183/16000617.0064-2019. PMID: 31554703Free PMC Article
Masa JF, Pépin JL, Borel JC, Mokhlesi B, Murphy PB, Sánchez-Quiroga MÁ
Eur Respir Rev 2019 Mar 31;28(151) Epub 2019 Mar 14 doi: 10.1183/16000617.0097-2018. PMID: 30872398Free PMC Article
Mohammadieh A, Sutherland K, Cistulli PA
Intern Med J 2017 Nov;47(11):1241-1247. doi: 10.1111/imj.13606. PMID: 29105265
Leatherman J
Chest 2015 Jun;147(6):1671-1680. doi: 10.1378/chest.14-1733. PMID: 26033128

Clinical prediction guides

Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594
McNicholas WT, Hansson D, Schiza S, Grote L
Eur Respir Rev 2019 Sep 30;28(153) Epub 2019 Sep 25 doi: 10.1183/16000617.0064-2019. PMID: 31554703Free PMC Article
Baillieul S, Revol B, Jullian-Desayes I, Joyeux-Faure M, Tamisier R, Pépin JL
Expert Rev Respir Med 2019 Jun;13(6):545-557. Epub 2019 Apr 24 doi: 10.1080/17476348.2019.1604226. PMID: 31014146
Hillman DR, Chung F
Respirology 2017 Feb;22(2):230-239. Epub 2016 Dec 17 doi: 10.1111/resp.12967. PMID: 27988979
Vazquez-Sandoval A, Huang EJ, Jones SF
Semin Respir Crit Care Med 2009 Jun;30(3):348-58. Epub 2009 May 18 doi: 10.1055/s-0029-1222449. PMID: 19452395

Recent systematic reviews

Xu J, Wei Z, Li W, Wang W
Sleep Med 2022 Mar;91:51-58. Epub 2022 Jan 13 doi: 10.1016/j.sleep.2022.01.008. PMID: 35272117
van Merode NAM, Dawson S, Coulthard E, Henderson EJ, Rice CM, Rees J, Smith M, Strong E, Cotterill N, Huntley AL, Drake MJ
Eur Urol Focus 2022 Jan;8(1):33-41. Epub 2022 Jan 12 doi: 10.1016/j.euf.2021.12.012. PMID: 35031351
Harvengt J, Gernay C, Mastouri M, Farhat N, Lebrethon MC, Seghaye MC, Bours V
J Clin Endocrinol Metab 2020 Jul 1;105(7) doi: 10.1210/clinem/dgaa247. PMID: 32407531
Luo F, Annane D, Orlikowski D, He L, Yang M, Zhou M, Liu GJ
Cochrane Database Syst Rev 2017 Dec 4;12(12):CD008380. doi: 10.1002/14651858.CD008380.pub2. PMID: 29199768Free PMC Article
Katyal V, Pamula Y, Martin AJ, Daynes CN, Kennedy JD, Sampson WJ
Am J Orthod Dentofacial Orthop 2013 Jan;143(1):20-30.e3. doi: 10.1016/j.ajodo.2012.08.021. PMID: 23273357

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