Pediatric pulmonary veno-occlusive disease associated with a novel BMPR2 variant.
bone morphogenetic protein receptor type II
pulmonary arterial hypertension
pulmonary veno-occlusive disease
single living-donor lobar lung transplantation
Journal
Pediatric pulmonology
ISSN: 1099-0496
Titre abrégé: Pediatr Pulmonol
Pays: United States
ID NLM: 8510590
Informations de publication
Date de publication:
05 2022
05 2022
Historique:
revised:
17
02
2022
received:
28
09
2021
accepted:
20
02
2022
pubmed:
2
3
2022
medline:
22
4
2022
entrez:
1
3
2022
Statut:
ppublish
Résumé
Pulmonary veno-occlusive disease (PVOD) and idiopathic/heritable pulmonary arterial hypertension (I/HPAH) cause progressive PH on the distinct genetic impact. A 29-month-old boy presented with a loss of consciousness. He had severe PH refractory to pulmonary vasodilators. Hypoxemia and ground-glass opacity on the chest computed tomography were present, and significant pulmonary edema developed after the introduction of continuous intravenous prostaglandin I
Substances chimiques
BMPR2 protein, human
EC 2.7.11.30
Bone Morphogenetic Protein Receptors, Type II
EC 2.7.11.30
Types de publication
Letter
Langues
eng
Sous-ensembles de citation
IM
Pagination
1366-1369Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
Montani D, Achouh L, Dorfmüller P, et al. Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology. Medicine (Baltimore). 2008;87(4):220-233.
Gräf S, Haimel M, Bleda M, et al. Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nat Commun. 2018;9(1):1416.
Oriaku I, LeSieur MN, Nichols WC, et al. A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype. Pulm Circ. 2020;10(3):2045894020931315.
Eyries M, Montani D, Nadaud S, et al. Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases. Eur Respir J. 2019;53(3):1801371.
Ogawa A, Takahashi Y, Matsubara H. Clinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. J Cardiol. 2018;72(3):255-260.
Pousada G, Lupo V, Cástro-Sánchez S, et al. Molecular and functional characterization of the BMPR2 gene in pulmonary arterial hypertension. Sci Rep. 2017;7(1):1923.
Runo JR, Vnencak-Jones CL, Prince M, et al. Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II. Am J Respir Crit Care Med. 2003;167(6):889-894.
Takahashi K, Chen F, Ikeda T, et al. Single-lobe lung transplantation for rapidly deteriorating pulmonary venoocclusive disease. Ann Thorac Surg. 2013;95(2):689-691.