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Published ahead of print on January 23, 2004, doi:10.1164/rccm.200310-1441OC
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American Journal of Respiratory and Critical Care Medicine Vol 169. pp. 994-1000, (2004)
© 2004 American Thoracic Society

Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia

Vincent Cottin, Henri Plauchu, Jean-Yves Bayle, Martine Barthelet, Didier Revel and Jean-François Cordier

Service de Pneumologie, Centre des Maladies Orphelines Pulmonaires, Hôpital Cardiovasculaire et Pneumologique Louis Pradel, Université Claude Bernard; Service de Génétique, Hôpital de l'Hotel-Dieu; Laboratoire d'Exploration Fonctionnelle Respiratoire, Laboratoire d'Echocardiographie, and Service de Radiologie, Hôpital Louis Pradel; Réseau de Recherche sur la Maladie de Rendu-Osler; and UMR 754 INRA-ENVL-UCBL, IFR 128, Lyon, France

Correspondence and requests for reprints should be addressed to Vincent Cottin, M.D., Ph.D., Hôpital Cardiovasculaire et Pneumologique Louis Pradel, 69677 Bron Cedex, France. E-mail: vincent.cottin{at}chu-lyon.fr

Pulmonary arteriovenous malformations (PAVMs) associated with hereditary hemorrhagic telangiectasia may cause severe cerebral complications that may be prevented by embolization therapy. We retrospectively compared the diagnostic value of noninvasive tests for the screening of treatable (amenable to embolization) PAVMs in a series of 105 patients, using chest computerized tomography (CT) and/or pulmonary angiography as a "gold standard." Patients had assessment of dyspnea, chest radiograph, alveolar–arterial PO2 gradient under 100% oxygen (AaPO2), contrast echocardiography, and radionuclide perfusion lung scanning. Contrast echocardiography in the supine position was the most sensitive test (93%). The sensitivity of self-reported dyspnea (59%), chest radiograph alone (70%), measurement of AaPO2 by the 100% oxygen method (62%), or radionuclide lung scanning (71%), was not suitable for efficient screening. A 100% sensitivity and negative predictive value could be obtained when combining anteroposterior chest radiograph and contrast echocardiography. Our data support a screening algorithm based on the combined use of contrast echocardiography and anteroposterior chest radiograph, followed by chest CT if either test is positive. An alternative is to screen directly by chest CT. However, this algorithm may obviate the need for chest CT in patients without PAVM, who represent a majority of patients with hereditary hemorrhagic telangiectasia.

Key Words: contrast echocardiography • hereditary hemorrhagic telangiectasia • Osler-Rendu-Weber disease • pulmonary arteriovenous malformations • right-to-left shunting




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