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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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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.

Original languageEnglish
Article number101564
Number of pages6
JournalRespiratory medicine case reports
Volume34
DOIs
Publication statusPublished - 2021

Keywords

  • Outcome
  • Hereditary hemorrhagic telangiectasia
  • Pulmonary hypertension
  • Pulmonary veno-occlusive disease
  • Pediatrics
  • Cardiology
  • Case report
  • CAPILLARY HEMANGIOMATOSIS

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