Pulmonary arterial hypertension associated with pulmonary arteriovenous malformations and pulmonary veno-occlusive disease: A devastating combination

Baukje M Zaaijer; Nienke Duppen; Brigitte W M Willemse; Martijn V Verhagen; Marcus T R Roofthooft; Wim Timens; Rolf M F Berger; Johannes M Douwes

doi:10.1016/j.rmcr.2021.101564

Pulmonary arterial hypertension associated with pulmonary arteriovenous malformations and pulmonary veno-occlusive disease: A devastating combination

Respir Med Case Rep. 2021 Dec 1:34:101564. doi: 10.1016/j.rmcr.2021.101564. eCollection 2021.

Authors

Baukje M Zaaijer¹, Nienke Duppen¹, Brigitte W M Willemse², Martijn V Verhagen³, Marcus T R Roofthooft¹, Wim Timens⁴, Rolf M F Berger¹, Johannes M Douwes¹

Affiliations

¹ University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Department of Pediatric Cardiology, the Netherlands.
² University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Department of Pediatric Pulmonology and Allergology, the Netherlands.
³ University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Department of Radiology, the Netherlands.
⁴ University of Groningen, University Medical Center Groningen, Department of Pathology and Medical Biology, the Netherlands.

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.

Keywords: Cardiology; Case report; Hereditary hemorrhagic telangiectasia; Outcome; Pediatrics; Pulmonary hypertension; Pulmonary veno-occlusive disease.

Publication types

Case Reports