Pulmonary arteriovenous malformations in hereditary hemorrhagic : A Series of 126 patients Vincent Cottin, Thierry Chinet, Armelle Lavolé, Romain Corre, Eric Marchand, Martine Reynaud-Gaubert, Henri Plauchu, Jean-François Cordier, . Groupe d’Etudes Et de Recherche Sur Les Maladies Orphelines Pulmonaires (germop)

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Vincent Cottin, Thierry Chinet, Armelle Lavolé, Romain Corre, Eric Marchand, et al.. Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia : A Series of 126 patients. Medicine, Lippincott, Williams & Wilkins, 2007, 86 (1), pp.1-17. ￿10.1097/MD.0b013e31802f8da1￿. ￿hal-02659529￿

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Distributed under a Creative Commons Attribution| 4.0 International License Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia A Series of 126 Patients Vincent Cottin, MD, PhD, Thierry Chinet, MD, Armelle Lavole´, MD, Romain Corre, MD, Eric Marchand, MD, Martine Reynaud-Gaubert, MD, Henri Plauchu, MD, Jean-Franc¸ois Cordier, MD, and the Groupe d’Etudes et de Recherche sur les Maladies ‘‘Orphelines’’ Pulmonaires (GERM‘‘O’’P)

Forty-three percent of patients were hypoxemic at rest. Contrast Abstract: Hereditary hemorrhagic telangiectasia (HHT) is a genetic echocardiography showed intrapulmonary right-to-left shunting in 87% disorder characterized by epistaxis, telangiectasia, and visceral of tested patients. PAVMs were seen on chest radiograph in 54% of vascular manifestations. Infectious and ischemic central nervous patients, and on the CT scan in all patients. One hundred five patients system (CNS) manifestations due to through pulmonary (83%) underwent treatment of the PAVM, by percutaneous emboliza- arteriovenous malformations (PAVMs) represent the main causes of tion (71%) and/or by surgical resection (23%). morbidity. To improve the phenotypic characterization of HHT with A high frequency of CNS and infectious complications was PAVM, we conducted a retrospective multicenter study of patients observed in this large series of patients with HHT-related PAVM. with HHT and at least 1 PAVM detected by chest computed Physicians may not be sufficiently aware of the clinical manifes- tomography (CT) and/or pulmonary angiography, with particular tations of this orphan disorder. Patients diagnosed with HHT should attention to CNS and infectious manifestations. be informed by physicians and patient associations of the risk of The study included 126 patients (47 men, 79 women), with a PAVM-related complications, and systematic screening for PAVM mean age of 43.1 ± 17.4 years; 45 patients had a mutation of the should be proposed, regardless of a patient’s symptoms, familial ENG gene and 16 had a mutation of ACVRL1. PAVMs were history, or genetic considerations. diagnosed as a result of systematic screening procedures (29%), incidental imaging findings (15%), dyspnea (22%), or CNS (Medicine 2007;86:1–17) symptoms (13%). The PAVMs were diagnosed at a mean age of 43 ± 17 years, with a linear distribution of diagnosis between 20 and Abbreviations: CNS = central nervous system, CT = computed 75 years. Dyspnea on exertion was present in 56% of patients. Four tomography, GERM‘‘O’’P = Groupe d’Etudes et de Recherche sur les patients had a hemothorax, including 1