Case report: A finding of PVOD and PAH in first degree relatives suggests shared heritable risk and overlapping features of both pulmonary vascular diseases
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 genetic...
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| Format: | Article |
| Language: | English |
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Wiley
2024-11-01
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| Series: | Respirology Case Reports |
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| Online Access: | https://doi.org/10.1002/rcr2.70064 |
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| author | Roger Winters Lindsay M. Forbes Dunbar Ivy Carlyne Cool Bryan D. Park Peter Hountras David Badesch Sue Gu Edda Spiekerkoetter Roham Zamanian Stacey LeierGluck Todd M. Bull |
| author_facet | Roger Winters Lindsay M. Forbes Dunbar Ivy Carlyne Cool Bryan D. Park Peter Hountras David Badesch Sue Gu Edda Spiekerkoetter Roham Zamanian Stacey LeierGluck Todd M. Bull |
| author_sort | Roger Winters |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c47100dc5a6e4cb39f373ddbcd96d612 |
| institution | OA Journals |
| issn | 2051-3380 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Respirology Case Reports |
| spelling | doaj-art-c47100dc5a6e4cb39f373ddbcd96d6122025-08-20T02:22:40ZengWileyRespirology Case Reports2051-33802024-11-011211n/an/a10.1002/rcr2.70064Case report: A finding of PVOD and PAH in first degree relatives suggests shared heritable risk and overlapping features of both pulmonary vascular diseasesRoger Winters0Lindsay M. Forbes1Dunbar Ivy2Carlyne Cool3Bryan D. Park4Peter Hountras5David Badesch6Sue Gu7Edda Spiekerkoetter8Roham Zamanian9Stacey LeierGluck10Todd M. Bull11Internal Medicine Residency Program, Department of Medicine University of Colorado Aurora Colorado USADivision of Pulmonary Sciences & Critical Care Medicine, Pulmonary Vascular Disease Center University of Colorado Aurora Colorado USADivision of Pediatric Cardiology University of Colorado Children's Hospital Aurora Colorado USADivision of Pathology University of Colorado Colorado USADivision of Pulmonary Sciences & Critical Care Medicine, Pulmonary Vascular Disease Center University of Colorado Aurora Colorado USADivision of Pulmonary Sciences & Critical Care Medicine, Pulmonary Vascular Disease Center University of Colorado Aurora Colorado USADivision of Pulmonary Sciences & Critical Care Medicine, Pulmonary Vascular Disease Center University of Colorado Aurora Colorado USADivision of Pulmonary Sciences & Critical Care Medicine, Pulmonary Vascular Disease Center University of Colorado Aurora Colorado USADivision of Pulmonary, Allergy & Critical Care Medicine Stanford University Stanford California USADivision of Pulmonary, Allergy & Critical Care Medicine Stanford University Stanford California USADivision of Pulmonary Sciences & Critical Care Medicine, Pulmonary Vascular Disease Center University of Colorado Aurora Colorado USADivision of Pulmonary Sciences & Critical Care Medicine, Pulmonary Vascular Disease Center University of Colorado Aurora Colorado USAAbstract 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.https://doi.org/10.1002/rcr2.70064geneticspulmonary circulation and pulmonary hypertensionPVOD or pulmonary veno‐occlusive diseaserare lung diseases |
| spellingShingle | Roger Winters Lindsay M. Forbes Dunbar Ivy Carlyne Cool Bryan D. Park Peter Hountras David Badesch Sue Gu Edda Spiekerkoetter Roham Zamanian Stacey LeierGluck Todd M. Bull Case report: A finding of PVOD and PAH in first degree relatives suggests shared heritable risk and overlapping features of both pulmonary vascular diseases Respirology Case Reports genetics pulmonary circulation and pulmonary hypertension PVOD or pulmonary veno‐occlusive disease rare lung diseases |
| title | Case report: A finding of PVOD and PAH in first degree relatives suggests shared heritable risk and overlapping features of both pulmonary vascular diseases |
| title_full | Case report: A finding of PVOD and PAH in first degree relatives suggests shared heritable risk and overlapping features of both pulmonary vascular diseases |
| title_fullStr | Case report: A finding of PVOD and PAH in first degree relatives suggests shared heritable risk and overlapping features of both pulmonary vascular diseases |
| title_full_unstemmed | Case report: A finding of PVOD and PAH in first degree relatives suggests shared heritable risk and overlapping features of both pulmonary vascular diseases |
| title_short | Case report: A finding of PVOD and PAH in first degree relatives suggests shared heritable risk and overlapping features of both pulmonary vascular diseases |
| title_sort | case report a finding of pvod and pah in first degree relatives suggests shared heritable risk and overlapping features of both pulmonary vascular diseases |
| topic | genetics pulmonary circulation and pulmonary hypertension PVOD or pulmonary veno‐occlusive disease rare lung diseases |
| url | https://doi.org/10.1002/rcr2.70064 |
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