Related Experiment Video
Updated: Apr 28, 2026

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
[Hereditary hemorrhagic telangiectasia. Report of a pediatric case]
Abstract:
Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber syndrome, is an autosomal dominant multiorgan disorder. This multisystemic vascular dysplasia is determined by a mutation of one of two main genes, endoglin (ENG) or HHT1, or ACVRL1 or HHT2. These mutations induce vascular disorders that cause recurrent epistaxis and eventually multiple telangiectasia and arteriovenous visceral malformations. We report the case of a 7-year-old girl who developed severe hypoxemia due to multiple pulmonary arteriovenous malformations.
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