Roger Winters, Lindsay M. Forbes, Dunbar Ivy, Carlyne Cool, Bryan D. Park, Peter Hountras, David Badesch, Sue Gu, Edda Spiekerkoetter, Roham Zamanian, Stacey Leier Gluck, Todd M. Bull
University of Colorado and University of Colorado Children’s Hospital. Stanford University.
United States
Respirology Case Reports
Respirol Case Rep 2024; 12:
DOI: 10.1002/rcr2.70064
Abstract
Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary vascular disease that is difficult to distinguish clinically from pulmonary arterial hypertension (PAH). Multiple genes have been implicated in disease pathogenesis in PAH and PVOD and the diseases are thought to be genetically distinct. In this report we present a case of first-degree relatives with pathological evidence of PVOD and PAH. The index patient was diagnosed with PAH at age 42, was treated with escalating pulmonary vasodilator therapy, but eventually succumbed to her disease. On autopsy, her pathology was consistent with PAH. Her son was diagnosed with PAH at age 16, did well on pulmonary vasodilator therapy for over 10 years, but ultimately developed refractory right ventricular failure and received a heart and lung transplantation. Pathology of his explanted lung was consistent with PVOD, and genetic testing was negative for recognized variants that cause PAH or PVOD.
Category
Class I. Pulmonary Veno-occlusive Disease and Pulmonary Capillary Hemangiomatosis
Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes