Case Report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia.
This case expands our understanding of therapeutic strategies for PH associated with FBN1 mutation-related GD. Treprostinil may be effective in the treatment of these patients. Given the risk of progressive pulmonary disease, early surgical intervention for mitral valve pathology may be crucial for improving prognosis.
Authors
- Yong-Hua Yuan
- Xue-Hua He
- Liping Liu (ORCID: https://orcid.org/0000-0002-8679-9567)
- Zhidong Chen (ORCID: https://orcid.org/0000-0002-9383-9563)
- Yuan Cao
Institutions
- Qingdao University (CN)
- Hunan Normal University (CN)
- Hunan Provincial People's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-01-01
- DOI
- https://doi.org/10.3389/fped.2025.1642390
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00