Pediatric pulmonary veno-occlusive disease associated with a novel BMPR2 variant.
Pediatr Pulmonol
; 57(5): 1366-1369, 2022 05.
Article
en En
| MEDLINE
| ID: mdl-35229499
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 I2 . 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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Enfermedad Veno-Oclusiva Pulmonar
/
Trasplante de Pulmón
/
Hipertensión Pulmonar
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Pulmonol
Asunto de la revista:
PEDIATRIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Japón