Baukje M. Zaaijera, Nienke Duppena, Brigitte W. M. Willemseb, Martijn V. Verhagenc, Marcus T. R. Roofthoofta, WimT imensd, Rolf M. F. Bergera, Johannes M. Douwes
University of Groningen, University Medical Center Groningen, Beatrix Children’s Hospital.
Netherlands
Respiratory Medicine Case Reports
Respir Med Case Rep 2021; 34:
DOI: 10.1016/j.rmcr.2021.101564
Abstract
We describe a case of an adolescent male with the rare combination of pulmonary arterial hypertension (PAH) and pulmonary arteriovenous malformations (PAVM’s) without confirmed hereditary hemorrhagic telangiectasia (HHT). The patient showed clinical deterioration on standard vasodilator therapy, leading us to question our initial diagnosis. Post-mortem evaluation confirmed the presence of pulmonary veno-occlusive disease of which no conclusive signs were recognized at diagnostic work-up. This case demonstrates the heterogeneity in the diseases causing PAH and shows that an unexpected treatment response should alert the physician to question the original diagnosis.
Category
Class I. Pulmonary Veno-occlusive Disease and Pulmonary Capillary Hemangiomatosis
Pulmonary Arteriovenous Malformations
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Filed (PHiled). Greater than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes