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Pediatric pulmonary veno-occlusive disease associated with a novel BMPR2 variant.
- Source :
-
Pediatric pulmonology [Pediatr Pulmonol] 2022 May; Vol. 57 (5), pp. 1366-1369. Date of Electronic Publication: 2022 Mar 17. - Publication Year :
- 2022
-
Abstract
- 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 <subscript>2</subscript> . Based on the clinical diagnosis of PVOD, he underwent a single living-donor lobar lung transplantation with the right lower lobe of his mother. The pathological findings of his explanted lung showed intimal thickening and luminal narrowing of the pulmonary vein. A genetic test revealed a novel heterozygous splice acceptor variant (c.77-2A>C) in BMPR2, which is typically associated with I/HPAH. This is the first pediatric case of PVOD with BMPR2 variant, supporting the concept that I/HPAH and PVOD are part of a spectrum of pulmonary vascular disease.<br /> (© 2022 Wiley Periodicals LLC.)
- Subjects :
- Bone Morphogenetic Protein Receptors, Type II genetics
Child
Child, Preschool
Familial Primary Pulmonary Hypertension
Humans
Lung
Male
Hypertension, Pulmonary diagnosis
Lung Transplantation adverse effects
Pulmonary Veno-Occlusive Disease complications
Pulmonary Veno-Occlusive Disease diagnostic imaging
Pulmonary Veno-Occlusive Disease genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1099-0496
- Volume :
- 57
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Pediatric pulmonology
- Publication Type :
- Editorial & Opinion
- Accession number :
- 35229499
- Full Text :
- https://doi.org/10.1002/ppul.25877