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Article

Pulmonary hypertension associated with hereditary haemorrhagic telangiectasia: from genetics to clinical management.

The European respiratory journal - 1 Apr 2026

Jutant Etienne-Marie, Grynblat Julien, Pyrrait Matilde, Lechartier Benoit, Olitsky Scott, Ghigna Maria-Rosa, Dupuis-Girod Sophie, Coulet Florence, Savale Laurent, Humbert Marc, Ataya Ali, Montani David

Abstract excerpt

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder with an estimated prevalence of one in 5000 to one in 7000. Pathogenic variants in three genes, endoglin (ENG), activin receptor-like kinase 1 (ACVRL1) and mothers against decapentaplegic homolog 4 (SMAD4), all part of the transforming growth factor-β signalling pathway, account for over 90% of HHT cases. Clinically, HHT is...

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Share to Activin Receptors, Type II
Share to Arteriovenous Malformations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41713948
DOI: 10.1183/13993003.02322-2025

Genes

PAH
ACVRL1
ENG
SMAD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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