Pulmonary hypertension

Morphogenetic protein receptor II gene Genetic alterations Rendu–Osler–Weber syndrome a b s t r a c t Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by the triad of epistaxis, telangiectasia and vascular malformations. Pulmonary vascular complications asso-ciated with this disease include pulmonary arteriovenous malformations (AVM) and, less frequently, pulmonary hypertension (PH). We report the case of a patient who presented multiple pulmonary AVM and PH probably due to HHT. Embolization was carried out on one of the AVM and the patient received specific pulmonary arterial hypertension treatment with an endothelin receptor antagonist. We also described the patient’s functional and hemodynamic improvement after almost 3 years of follow-up. © 2012 SEPAR. Published by Elsevier España, S.L. All rights reserved. Hipertensión arterial pulmonar en un paciente con telangiectasia hemorrágica hereditaria Palabras clave: Hipertensión pulmona