Successful bosentan therapy for pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia

BMPR2 mutation in a patient with pulmona

BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia

✍ Christina M. Rigelsky; Constance Jennings; Rainer Lehtonen; Omar A. Minai; Chari 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 140 KB 👁 1 views

## Abstract Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFβ/BMP superfamily: __BMPR2__ in PAH and __ACVRL1__, __ENG__, or __SMAD4__ in HHT. When PAH and HHT occasi