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Article

ACVRL1 variation-induced hereditary hemorrhagic telangiectasia presenting with pulmonary arterial hypertension: clinical and genetic analyses of three case studies.

BMC cardiovascular disorders - 9 Apr 2025

Wang Zhixin, Li Ning, Qiao Nating, Li Li, Lyu Yaxuan, Li Jianwei, Guo Yanqing, Chen Guoliang

Abstract excerpt

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a hereditary vascular disease, and the ACVRL1 gene plays an important role in this disease, especially when associated with pulmonary arterial hypertension (PAH). In this study, we reported the clinical and genetic characteristics of 3 cases of HHT associated PAH caused by novel ACVRL1 mutations. METHOD: A retrospective analysis was conducted on the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40205542
DOI: 10.1186/s12872-025-04721-9
PMCID: PMC11980148

Genes

PAH
ACVRL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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