Precapillary pulmonary arterial hypertension in a patient with Proteus syndrome.
Proteus syndrome
dyspnea
pulmonary arterial hypertension
pulmonary embolism
Journal
Pulmonary circulation
ISSN: 2045-8932
Titre abrégé: Pulm Circ
Pays: United States
ID NLM: 101557243
Informations de publication
Date de publication:
Apr 2022
Apr 2022
Historique:
received:
11
04
2022
revised:
09
05
2022
accepted:
02
06
2022
entrez:
5
7
2022
pubmed:
6
7
2022
medline:
6
7
2022
Statut:
epublish
Résumé
Proteus syndrome is a rare progressive multisystem disorder characterized by asymmetric, disproportionate overgrowth of bone, skin, and other tissue types. Molecular pathogenesis has been identified as somatic activating mutations of the AKT1 gene. The presentation of Proteus syndrome is exceptionally variable. Respiratory complications include emphysematous lung disease and predisposition to pulmonary emboli, the latter of which is a significant source of mortality. Pulmonary hypertension due to longstanding hypoxic lung disease as well as chronic thromboembolic events has been observed in this population. In contrast, precapillary pulmonary arterial hypertension in the absence of chronic pulmonary emboli and parenchymal lung disease has not been described in the literature on patients with Proteus syndrome. We report such a case in a young patient with Proteus syndrome, reviewing subsequent management and emphasizing the need for a detailed investigation of dyspnea.
Identifiants
pubmed: 35783033
doi: 10.1002/pul2.12098
pii: PUL212098
pmc: PMC9235868
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e12098Informations de copyright
© 2022 The Authors. Pulmonary Circulation published by John Wiley & Sons Ltd on behalf of Pulmonary Vascular Research Institute.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
Références
Clin Genet. 2000 Nov;58(5):386-9
pubmed: 11140839
Front Pediatr. 2017 Jul 24;5:158
pubmed: 28791278
Am J Med Genet. 1999 Jun 11;84(5):389-95
pubmed: 10360391
N Engl J Med. 2011 Aug 18;365(7):611-9
pubmed: 21793738
Sci Rep. 2021 Mar 22;11(1):6577
pubmed: 33753828
Am J Med Genet. 2001 Jun 1;101(1):1-3
pubmed: 11343327
J Am Acad Dermatol. 2012 Jan;66(1):71-7
pubmed: 21571392
Am J Med Genet A. 2004 Oct 1;130A(2):111-22
pubmed: 15372514
Am J Med Genet A. 2017 Sep;173(9):2359-2365
pubmed: 28627093
Respir Med Res. 2019 Nov;76:48-53
pubmed: 31557688
Clin Genet. 2014 Feb;85(2):111-9
pubmed: 23992099
Proc Natl Acad Sci U S A. 2014 Sep 2;111(35):12865-70
pubmed: 25136137
Eur J Hum Genet. 2006 Nov;14(11):1151-7
pubmed: 16883308
Clinics (Sao Paulo). 2020 Jan 10;75:e1373
pubmed: 31939560
Eur Respir Rev. 2017 Mar 15;26(143):
pubmed: 28298387