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Hypoventilation

MedGen UID:
469022
Concept ID:
C3203358
Pathologic Function
Synonyms: Alveolar hypoventilation; Respiratory depression; Slow breathing; Under breathing
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 include a spectrum of muscle disease caused by pathogenic variants in DMD, which encodes the protein dystrophin. 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 dilated cardiomyopathy (DCM) when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed milestones, including delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by age 13 years. Cardiomyopathy occurs in individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness; some individuals remain ambulatory into their 20s. 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. It 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
Congenital Abnormality
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.
Congenital disorder of glycosylation type 2B
MedGen UID:
342954
Concept ID:
C1853736
Disease or Syndrome
Perry syndrome
MedGen UID:
357007
Concept ID:
C1868594
Disease or Syndrome
Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 49 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.

Recent clinical studies

Etiology

Basu SM, Chung FF, AbdelHakim SF, Wong J
Anesth Analg 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470. PMID: 27918326
Charnay AJ, Antisdel-Lomaglio JE, Zelko FA, Rand CM, Le M, Gordon SC, Vitez SF, Tse JW, Brogadir CD, Nelson MN, Berry-Kravis EM, Weese-Mayer DE
Chest 2016 Mar;149(3):809-15. Epub 2016 Jan 12 doi: 10.1378/chest.15-0402. PMID: 26378991
Ogna A, Quera Salva MA, Prigent H, Mroue G, Vaugier I, Annane D, Lofaso F, Orlikowski D
Sleep Breath 2016 May;20(2):575-81. Epub 2015 Sep 4 doi: 10.1007/s11325-015-1247-2. PMID: 26338464
Shimokaze T, Sasaki A, Meguro T, Hasegawa H, Hiraku Y, Yoshikawa T, Kishikawa Y, Hayasaka K
J Hum Genet 2015 Sep;60(9):473-7. Epub 2015 Jun 11 doi: 10.1038/jhg.2015.65. PMID: 26063465
Trang H, Brunet JF, Rohrer H, Gallego J, Amiel J, Bachetti T, Fischbeck KH, Similowski T, Straus C, Ceccherini I, Weese-Mayer DE, Frerick M, Bieganowska K, Middleton L, Morandi F, Ottonello G; European Central Hypoventilation Syndrome Consortium.
Orphanet J Rare Dis 2014 Dec 5;9:194. doi: 10.1186/s13023-014-0194-5. PMID: 25928806Free PMC Article

Diagnosis

Augelli DM, Krieger AC
Sleep Med Clin 2017 Mar;12(1):87-98. Epub 2016 Dec 23 doi: 10.1016/j.jsmc.2016.10.010. PMID: 28159100
Basu SM, Chung FF, AbdelHakim SF, Wong J
Anesth Analg 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470. PMID: 27918326
Ogna A, Quera Salva MA, Prigent H, Mroue G, Vaugier I, Annane D, Lofaso F, Orlikowski D
Sleep Breath 2016 May;20(2):575-81. Epub 2015 Sep 4 doi: 10.1007/s11325-015-1247-2. PMID: 26338464
Shimokaze T, Sasaki A, Meguro T, Hasegawa H, Hiraku Y, Yoshikawa T, Kishikawa Y, Hayasaka K
J Hum Genet 2015 Sep;60(9):473-7. Epub 2015 Jun 11 doi: 10.1038/jhg.2015.65. PMID: 26063465
Trang H, Brunet JF, Rohrer H, Gallego J, Amiel J, Bachetti T, Fischbeck KH, Similowski T, Straus C, Ceccherini I, Weese-Mayer DE, Frerick M, Bieganowska K, Middleton L, Morandi F, Ottonello G; European Central Hypoventilation Syndrome Consortium.
Orphanet J Rare Dis 2014 Dec 5;9:194. doi: 10.1186/s13023-014-0194-5. PMID: 25928806Free PMC Article

Therapy

Basu SM, Chung FF, AbdelHakim SF, Wong J
Anesth Analg 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470. PMID: 27918326
Annane D, Orlikowski D, Chevret S
Cochrane Database Syst Rev 2014 Dec 13;(12):CD001941. doi: 10.1002/14651858.CD001941.pub3. PMID: 25503955
Leeson S, Roberson RS, Philip JH
Anesth Analg 2014 Oct;119(4):829-35. doi: 10.1213/ANE.0000000000000384. PMID: 25099926
De Oliveira GS Jr, Fitzgerald PC, Hansen N, Ahmad S, McCarthy RJ
Eur J Anaesthesiol 2014 Dec;31(12):654-62. doi: 10.1097/EJA.0000000000000025. PMID: 24247410
Morélot-Panzini C, Gonzalez-Bermejo J, Straus C, Similowski T
Int J Artif Organs 2013 Jun 25;36(6):434-8. Epub 2013 May 8 doi: 10.5301/ijao.5000197. PMID: 23653299

Prognosis

Basu SM, Chung FF, AbdelHakim SF, Wong J
Anesth Analg 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470. PMID: 27918326
Aljabban L, Kassab L, Bakoura NA, Alsalka MF, Maksoud I
J Med Case Rep 2016 Nov 22;10(1):328. doi: 10.1186/s13256-016-1116-z. PMID: 27876089Free PMC Article
Al-Harbi AS, Al-Shamrani A, Al-Shawwa BA
Saudi Med J 2016 Nov;37(11):1258-1260. doi: 10.15537/smj.2016.11.15578. PMID: 27761566Free PMC Article
Ogna A, Quera Salva MA, Prigent H, Mroue G, Vaugier I, Annane D, Lofaso F, Orlikowski D
Sleep Breath 2016 May;20(2):575-81. Epub 2015 Sep 4 doi: 10.1007/s11325-015-1247-2. PMID: 26338464
Magalhães J, Madureira N, Medeiros R, Fernandes PC, Oufadem M, Amiel J, Estêvão MH, Reis MG
Sleep Breath 2015 Mar;19(1):55-60. Epub 2014 May 4 doi: 10.1007/s11325-014-0996-7. PMID: 24792884

Clinical prediction guides

Basu SM, Chung FF, AbdelHakim SF, Wong J
Anesth Analg 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470. PMID: 27918326
Aljabban L, Kassab L, Bakoura NA, Alsalka MF, Maksoud I
J Med Case Rep 2016 Nov 22;10(1):328. doi: 10.1186/s13256-016-1116-z. PMID: 27876089Free PMC Article
Charnay AJ, Antisdel-Lomaglio JE, Zelko FA, Rand CM, Le M, Gordon SC, Vitez SF, Tse JW, Brogadir CD, Nelson MN, Berry-Kravis EM, Weese-Mayer DE
Chest 2016 Mar;149(3):809-15. Epub 2016 Jan 12 doi: 10.1378/chest.15-0402. PMID: 26378991
Ogna A, Quera Salva MA, Prigent H, Mroue G, Vaugier I, Annane D, Lofaso F, Orlikowski D
Sleep Breath 2016 May;20(2):575-81. Epub 2015 Sep 4 doi: 10.1007/s11325-015-1247-2. PMID: 26338464
Shimokaze T, Sasaki A, Meguro T, Hasegawa H, Hiraku Y, Yoshikawa T, Kishikawa Y, Hayasaka K
J Hum Genet 2015 Sep;60(9):473-7. Epub 2015 Jun 11 doi: 10.1038/jhg.2015.65. PMID: 26063465

Recent systematic reviews

Basu SM, Chung FF, AbdelHakim SF, Wong J
Anesth Analg 2017 Jan;124(1):169-178. doi: 10.1213/ANE.0000000000001470. PMID: 27918326
Sieg EP, Payne RA, Hazard S, Rizk E
Childs Nerv Syst 2016 Jun;32(6):1033-8. Epub 2016 Apr 15 doi: 10.1007/s00381-016-3086-2. PMID: 27083568
Annane D, Orlikowski D, Chevret S
Cochrane Database Syst Rev 2014 Dec 13;(12):CD001941. doi: 10.1002/14651858.CD001941.pub3. PMID: 25503955
Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; ATS Congenital Central Hypoventilation Syndrome Subcommittee.
Am J Respir Crit Care Med 2010 Mar 15;181(6):626-44. doi: 10.1164/rccm.200807-1069ST. PMID: 20208042
Annane D, Orlikowski D, Chevret S, Chevrolet JC, Raphaël JC
Cochrane Database Syst Rev 2007 Oct 17;(4):CD001941. doi: 10.1002/14651858.CD001941.pub2. PMID: 17943762

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