Pulmonary Arteriovenous Malformations in Dyskeratosis Congenita |
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| Authors: | Bennett P Samuel MHA BSN RN Ulrich A Duffner MD Aly S Abdel‐Mageed MD Joseph J Vettukattil MD DNB |
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| Institution: | 1. Congenital Heart Center, Helen DeVos Children's Hospital of Spectrum Health, Grand Rapids, Michigan;2. Blood and Bone Marrow Transplant, Helen DeVos Children's Hospital of Spectrum Health, Grand Rapids, Michigan |
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| 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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