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Central cyanosis

MedGen UID:
636837
Concept ID:
C0521800
Finding
SNOMED CT: Central cyanosis (95837007)
 
HPO: HP:0034032

Definition

Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCentral cyanosis

Conditions with this feature

Cardiac valvular dysplasia 2
MedGen UID:
1823999
Concept ID:
C5774226
Disease or Syndrome
Cardiac valvular dysplasia-2 (CVDP2) is characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients (Wunnemann et al., 2020; Massadeh et al., 2020). For a discussion of genetic heterogeneity of CVDP, see CVDP1 (212093).

Professional guidelines

PubMed

Arvanitaki A, Giannakoulas G, Baumgartner H, Lammers AE
Heart 2020 Nov;106(21):1638-1645. Epub 2020 Jul 20 doi: 10.1136/heartjnl-2020-316665. PMID: 32690623
Nascimento-Carvalho CM
J Pediatr (Rio J) 2020 Mar-Apr;96 Suppl 1(Suppl 1):29-38. Epub 2019 Sep 10 doi: 10.1016/j.jped.2019.08.003. PMID: 31518547Free PMC Article
Rigby ML
Early Hum Dev 2016 Nov;102:5-11. Epub 2016 Oct 14 doi: 10.1016/j.earlhumdev.2016.09.003. PMID: 27745924

Recent clinical studies

Etiology

Arvanitaki A, Giannakoulas G, Baumgartner H, Lammers AE
Heart 2020 Nov;106(21):1638-1645. Epub 2020 Jul 20 doi: 10.1136/heartjnl-2020-316665. PMID: 32690623
Kumar SS, Selvarajan Chettiar KP, Nambiar R
J Natl Med Assoc 2018 Aug;110(4):352-357. Epub 2017 Jul 18 doi: 10.1016/j.jnma.2017.07.002. PMID: 30126560
Attinà D, Niro F, Garzillo G, Modolon C, Russo V, Lovato L, Galiè N, Zompatori M
Lung 2015 Apr;193(2):173-81. Epub 2014 Dec 31 doi: 10.1007/s00408-014-9681-7. PMID: 25549894
Keating P, Van der Merwe, Shipton
Cardiovasc J S Afr 2001 Aug-Sep;12(4):202-5. PMID: 11717697
Landsberg PG
S Afr Med J 1975 Apr 5;49(15):626-30. PMID: 49082

Diagnosis

Goldstein SA, Krasuski RA
Cardiol Clin 2022 Feb;40(1):55-67. doi: 10.1016/j.ccl.2021.08.006. PMID: 34809917
Arvanitaki A, Giannakoulas G, Baumgartner H, Lammers AE
Heart 2020 Nov;106(21):1638-1645. Epub 2020 Jul 20 doi: 10.1136/heartjnl-2020-316665. PMID: 32690623
Nascimento-Carvalho CM
J Pediatr (Rio J) 2020 Mar-Apr;96 Suppl 1(Suppl 1):29-38. Epub 2019 Sep 10 doi: 10.1016/j.jped.2019.08.003. PMID: 31518547Free PMC Article
Rigby ML
Early Hum Dev 2016 Nov;102:5-11. Epub 2016 Oct 14 doi: 10.1016/j.earlhumdev.2016.09.003. PMID: 27745924
Jamal A
J Coll Physicians Surg Pak 2006 Feb;16(2):157-9. PMID: 16499818

Therapy

Sonck E, Bourmanne E, Bruteyn J, Dolip W
J Med Case Rep 2022 Jun 21;16(1):244. doi: 10.1186/s13256-022-03475-8. PMID: 35725643Free PMC Article
Nascimento-Carvalho CM
J Pediatr (Rio J) 2020 Mar-Apr;96 Suppl 1(Suppl 1):29-38. Epub 2019 Sep 10 doi: 10.1016/j.jped.2019.08.003. PMID: 31518547Free PMC Article
Paul A, Chacko ST
BMJ Case Rep 2019 Mar 31;12(3) doi: 10.1136/bcr-2018-228470. PMID: 30936348Free PMC Article
Keating P, Van der Merwe, Shipton
Cardiovasc J S Afr 2001 Aug-Sep;12(4):202-5. PMID: 11717697
Hall AH, Kulig KW, Rumack BH
Med Toxicol 1986 Jul-Aug;1(4):253-60. doi: 10.1007/BF03259842. PMID: 3537620

Prognosis

Arvanitaki A, Giannakoulas G, Baumgartner H, Lammers AE
Heart 2020 Nov;106(21):1638-1645. Epub 2020 Jul 20 doi: 10.1136/heartjnl-2020-316665. PMID: 32690623
Nascimento-Carvalho CM
J Pediatr (Rio J) 2020 Mar-Apr;96 Suppl 1(Suppl 1):29-38. Epub 2019 Sep 10 doi: 10.1016/j.jped.2019.08.003. PMID: 31518547Free PMC Article
Minowa H, Takagi K, Arai I, Yasuhara H, Ebisu R, Ohgitani A
J Matern Fetal Neonatal Med 2020 Mar;33(5):785-789. Epub 2018 Sep 6 doi: 10.1080/14767058.2018.1501018. PMID: 30010451
Kumar SS, Selvarajan Chettiar KP, Nambiar R
J Natl Med Assoc 2018 Aug;110(4):352-357. Epub 2017 Jul 18 doi: 10.1016/j.jnma.2017.07.002. PMID: 30126560
Rigby ML
Early Hum Dev 2016 Nov;102:5-11. Epub 2016 Oct 14 doi: 10.1016/j.earlhumdev.2016.09.003. PMID: 27745924

Clinical prediction guides

Minowa H
J Matern Fetal Neonatal Med 2022 Dec;35(25):7132-7138. Epub 2021 Jun 28 doi: 10.1080/14767058.2021.1944094. PMID: 34182876
Minowa H
J Matern Fetal Neonatal Med 2022 Feb;35(4):770-774. Epub 2020 Feb 24 doi: 10.1080/14767058.2020.1731797. PMID: 32093584
Arvanitaki A, Giannakoulas G, Baumgartner H, Lammers AE
Heart 2020 Nov;106(21):1638-1645. Epub 2020 Jul 20 doi: 10.1136/heartjnl-2020-316665. PMID: 32690623
Nascimento-Carvalho CM
J Pediatr (Rio J) 2020 Mar-Apr;96 Suppl 1(Suppl 1):29-38. Epub 2019 Sep 10 doi: 10.1016/j.jped.2019.08.003. PMID: 31518547Free PMC Article
McNaughten B, Bourke TW
Practitioner 2015 Jul-Aug;259(1784):13-5, 2. PMID: 26514055

Recent systematic reviews

Maramba IDC, Lim E, Menzies JC, Nijman R, Zhou S, Latour JM
BMJ Paediatr Open 2024 Jul 29;8(1) doi: 10.1136/bmjpo-2024-002737. PMID: 39074954Free PMC Article
Lassi ZS, Imdad A, Bhutta ZA
Cochrane Database Syst Rev 2015 Jun 16;(6):CD008032. doi: 10.1002/14651858.CD008032.pub2. PMID: 26077639

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