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Orthopnea

MedGen UID:
508348
Concept ID:
C0085619
Finding
Synonyms: Dyspnea, Recumbent; Recumbent Dyspnea
SNOMED CT: Orthopnea (62744007); Breathlessness lying flat (62744007)
 
HPO: HP:0012764

Definition

A sensation of breathlessness in the recumbent position, relieved by sitting or standing. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOrthopnea

Conditions with this feature

Myofibrillar myopathy 2
MedGen UID:
324735
Concept ID:
C1837317
Disease or Syndrome
Alpha-B crystallin-related myofibrillar myopathy is an autosomal dominant muscular disorder characterized by adult onset of progressive muscle weakness affecting both the proximal and distal muscles and associated with respiratory insufficiency, cardiomyopathy, and cataracts. There is phenotypic variability both within and between families (Fardeau et al., 1978; Selcen and Engel, 2003). A homozygous founder mutation in the CRYAB gene has been identified in Canadian aboriginal infants of Cree origin who have a severe fatal infantile hypertonic form of myofibrillar myopathy; see 613869. For a phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).
Hypertrophic cardiomyopathy 16
MedGen UID:
462554
Concept ID:
C3151204
Disease or Syndrome
Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.

Professional guidelines

PubMed

Mamarabadi M, Mauney S, Li Y, Aboussouan LS
Muscle Nerve 2024 Nov;70(5):916-928. Epub 2024 Sep 12 doi: 10.1002/mus.28243. PMID: 39267292
Mailosi BGD, Ruderman T, Klassen SL, Kachimanga C, Aron MB, Boti M, Kumwenda K, Bukhman G, Muula AS, Banda NPK, Kwan GF
Glob Heart 2023;18(1):35. Epub 2023 Jun 16 doi: 10.5334/gh.1210. PMID: 37334396Free PMC Article
Gazewood JD, Turner PL
Am Fam Physician 2017 Nov 1;96(9):582-588. PMID: 29094875

Recent clinical studies

Etiology

Lee SY, Pearce EN
JAMA 2023 Oct 17;330(15):1472-1483. doi: 10.1001/jama.2023.19052. PMID: 37847271Free PMC Article
Frea S, Pidello S, Volpe A, Canavosio FG, Galluzzo A, Bovolo V, Camarda A, Golzio PG, D'Ascenzo F, Bergerone S, Rinaldi M, Gaita F
Clin Res Cardiol 2020 Apr;109(4):417-425. Epub 2019 Jun 29 doi: 10.1007/s00392-019-01521-y. PMID: 31256261
Mysliwiec M, Bonita RE
Med Clin North Am 2017 May;101(3):507-519. Epub 2017 Mar 2 doi: 10.1016/j.mcna.2016.12.010. PMID: 28372710
Wexler RK, Elton T, Pleister A, Feldman D
Am Fam Physician 2009 May 1;79(9):778-84. PMID: 20141097Free PMC Article
Cedarbaum JM, Stambler N, Malta E, Fuller C, Hilt D, Thurmond B, Nakanishi A
J Neurol Sci 1999 Oct 31;169(1-2):13-21. doi: 10.1016/s0022-510x(99)00210-5. PMID: 10540002

Diagnosis

Lee SY, Pearce EN
JAMA 2023 Oct 17;330(15):1472-1483. doi: 10.1001/jama.2023.19052. PMID: 37847271Free PMC Article
Pandhi P, Ter Maaten JM, Anker SD, Ng LL, Metra M, Samani NJ, Lang CC, Dickstein K, de Boer RA, van Veldhuisen DJ, Voors AA, Sama IE
JACC Heart Fail 2022 Sep;10(9):623-632. doi: 10.1016/j.jchf.2022.05.013. PMID: 36049813
Chen J, Aronowitz P
Med Clin North Am 2022 May;106(3):447-458. Epub 2022 Apr 4 doi: 10.1016/j.mcna.2021.12.002. PMID: 35491065
Long B, Koyfman A, Gottlieb M
West J Emerg Med 2019 Oct 24;20(6):875-884. doi: 10.5811/westjem.2019.9.43732. PMID: 31738714Free PMC Article
Precone V, Krasi G, Guerri G, Madureri A, Piazzani M, Michelini S, Barati S, Maniscalchi T, Bressan S, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):32-43. doi: 10.23750/abm.v90i10-S.8755. PMID: 31577251Free PMC Article

Therapy

Lee SY, Pearce EN
JAMA 2023 Oct 17;330(15):1472-1483. doi: 10.1001/jama.2023.19052. PMID: 37847271Free PMC Article
Frea S, Pidello S, Volpe A, Canavosio FG, Galluzzo A, Bovolo V, Camarda A, Golzio PG, D'Ascenzo F, Bergerone S, Rinaldi M, Gaita F
Clin Res Cardiol 2020 Apr;109(4):417-425. Epub 2019 Jun 29 doi: 10.1007/s00392-019-01521-y. PMID: 31256261
Li Y, Zhang Y, Zhang Y
Respir Med 2018 Dec;145:145-152. Epub 2018 Nov 8 doi: 10.1016/j.rmed.2018.11.004. PMID: 30509704
Mysliwiec M, Bonita RE
Med Clin North Am 2017 May;101(3):507-519. Epub 2017 Mar 2 doi: 10.1016/j.mcna.2016.12.010. PMID: 28372710
Cedarbaum JM, Stambler N, Malta E, Fuller C, Hilt D, Thurmond B, Nakanishi A
J Neurol Sci 1999 Oct 31;169(1-2):13-21. doi: 10.1016/s0022-510x(99)00210-5. PMID: 10540002

Prognosis

Pandhi P, Ter Maaten JM, Anker SD, Ng LL, Metra M, Samani NJ, Lang CC, Dickstein K, de Boer RA, van Veldhuisen DJ, Voors AA, Sama IE
JACC Heart Fail 2022 Sep;10(9):623-632. doi: 10.1016/j.jchf.2022.05.013. PMID: 36049813
Chen J, Aronowitz P
Med Clin North Am 2022 May;106(3):447-458. Epub 2022 Apr 4 doi: 10.1016/j.mcna.2021.12.002. PMID: 35491065
Hardin EA, Grodin JL
Curr Heart Fail Rep 2017 Apr;14(2):127-133. doi: 10.1007/s11897-017-0319-y. PMID: 28243969
Cedarbaum JM, Stambler N, Malta E, Fuller C, Hilt D, Thurmond B, Nakanishi A
J Neurol Sci 1999 Oct 31;169(1-2):13-21. doi: 10.1016/s0022-510x(99)00210-5. PMID: 10540002
Lange PA, Stoller JK
Ann Intern Med 1995 Apr 1;122(7):521-9. doi: 10.7326/0003-4819-122-7-199504010-00008. PMID: 7872588

Clinical prediction guides

Lee SY, Pearce EN
JAMA 2023 Oct 17;330(15):1472-1483. doi: 10.1001/jama.2023.19052. PMID: 37847271Free PMC Article
Pandhi P, Ter Maaten JM, Anker SD, Ng LL, Metra M, Samani NJ, Lang CC, Dickstein K, de Boer RA, van Veldhuisen DJ, Voors AA, Sama IE
JACC Heart Fail 2022 Sep;10(9):623-632. doi: 10.1016/j.jchf.2022.05.013. PMID: 36049813
Frea S, Pidello S, Volpe A, Canavosio FG, Galluzzo A, Bovolo V, Camarda A, Golzio PG, D'Ascenzo F, Bergerone S, Rinaldi M, Gaita F
Clin Res Cardiol 2020 Apr;109(4):417-425. Epub 2019 Jun 29 doi: 10.1007/s00392-019-01521-y. PMID: 31256261
Cedarbaum JM, Stambler N, Malta E, Fuller C, Hilt D, Thurmond B, Nakanishi A
J Neurol Sci 1999 Oct 31;169(1-2):13-21. doi: 10.1016/s0022-510x(99)00210-5. PMID: 10540002
Lange PA, Stoller JK
Ann Intern Med 1995 Apr 1;122(7):521-9. doi: 10.7326/0003-4819-122-7-199504010-00008. PMID: 7872588

Recent systematic reviews

Pranata R, Yonas E, Chintya V, Alkatiri AA, Budi Siswanto B
Indian Heart J 2019 May-Jun;71(3):277-283. Epub 2019 Jun 3 doi: 10.1016/j.ihj.2019.05.001. PMID: 31543202Free PMC Article
Renier W, Winckelmann KH, Verbakel JY, Aertgeerts B, Buntinx F
Eur J Emerg Med 2018 Feb;25(1):3-11. doi: 10.1097/MEJ.0000000000000429. PMID: 29252938

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