ACVRL1 variation-induced hereditary hemorrhagic telangiectasia presenting with pulmonary arterial hypertension: clinical and genetic analyses of three case studies
The novel discovered ACVRL1 variants in this study may play a potential role in the pathogenesis of HHT and PAH, suggesting that the coordinated application of genetic testing and targeted drug therapy for PAH can play a positive role in clarifying disease diagnosis and controlling patients' conditions.
Authors
- Li Li (ORCID: https://orcid.org/0000-0001-7343-4406)
- Yanqing Guo (ORCID: https://orcid.org/0000-0002-5058-1451)
- Yang Lyu (ORCID: https://orcid.org/0000-0002-3560-4061)
- Nating Qiao
- Jianwei Li (ORCID: https://orcid.org/0000-0003-2999-6932)
- Furong Li (ORCID: https://orcid.org/0009-0002-7993-1133)
- Zhixin Wang (ORCID: https://orcid.org/0000-0003-2383-1010)
- Guoliang Chen (ORCID: https://orcid.org/0000-0002-1336-8379)
Institutions
- Shanxi Medical University (CN)
- Shanxi Cardiovascular Hospital (CN)
Publication Details
- Journal
- BMC Cardiovascular Disorders
- Published
- 2025-04-09
- DOI
- https://doi.org/10.1186/s12872-025-04721-9
- Primary Topic
- Vascular Anomalies and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00