📄
paper

Hereditary haemorrhagic telangiectasia with heritable pulmonary arterial hypertension.

📄 Paper Details
Hereditary haemorrhagic telangiectasia with heritable pulmonary arterial hypertension.
Wei-Wei Zhu; Xiu-Zhang Lv; Wen-Huan Li
European heart journal PubMed DOI
Abstract

Pulmonary arteriovenous malformations (PAVMs) are rare vascular anomalies most commonly seen in hereditary hemorrhagic telangiectasia (HHT), a condition associated with mutations in ENG, ACVRL1, SMAD4, or GDF2. In contrast, BMPR2 variants are well-established in heritable pulmonary arterial hypertension (PAH), but their relationship to PAVMs remains poorly understood. We report the case of a 41-year-old woman with an incidentally discovered PAVM, initially treated with embolization and subsequen...

View on SciDEX ↗