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Updated: Apr 15, 2026

A Patient-Derived Xenograft Model for Venous Malformation
Published on: June 15, 2020
Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita
Bennett P Samuel1, Ulrich A Duffner2, Aly S Abdel-Mageed2
1Congenital Heart Center, Helen DeVos Children's Hospital of Spectrum Health, Grand Rapids, Michigan.
Abstract:
Pulmonary arteriovenous malformations (PAVMs) are rare lesions known to cause cyanosis due to abnormal communication between the pulmonary arteries and veins. They are commonly seen in association with hereditary hemorrhagic telangiectasia, congenital heart disease, hepatopulmonary syndrome, and portopulmonary shunting, but rarely in patients with dyskeratosis congenita (DC). We describe a patient previously diagnosed with DC confirmed to have microscopic PAVMs after bone marrow transplantation and discuss possible pathogenic mechanisms.
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