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JOURNAL ARTICLE
REVIEW
Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: clinical aspects.
Cardiovascular Diagnosis and Therapy 2018 June
Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder of blood vessel formation resulting in mucocutaneous telangiectasias and visceral arteriovenous malformations. Nearly half of patients with HHT will have pulmonary arteriovenous malformations (PAVM) that place them at risk for potentially fatal complications that can occur when blood bypasses the pulmonary capillary circulation or as a result of PAVM rupture. Other manifestations of HHT outside the lung may increase the rate and severity of PAVM complications, creating unique clinical challenges. Management hinges on timely screening and diagnosis, followed by treatment of amenable PAVMs with transcatheter embolization in conjunction with medical management and prophylactic measures to treat and prevent complications. The purpose of this review is to highlight the clinical manifestations of PAVMs specific to patients with HHT and to detail screening and treatment strategies that can reduce the risk of developing life-threatening complications.
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