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Published ahead of print on January 23, 2004, doi:10.1164/rccm.200310-1441OC

Am. J. Respir. Crit. Care Med., Volume 169, Number 9, May 2004, 994-1000

A more recent version of this article appeared on May 1, 2004
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Submitted on October 28, 2003
Accepted on January 15, 2004

Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia

Vincent Cottin1*, Henri Plauchu2, Jean-Yves Bayle3, Martine Barthelet4, Didier Revel5, and Jean-Francois Cordier1

1 Service de Pneumologie - Centre des maladies orphelines pulmonaires, Hopital Cardiovasculaire et Pneumologique Louis Pradel, Universite Claude Bernard, Lyon, France; Reseau de Recherche sur la Maladie de Rendu-Osler, France; Unite Mixte de Recherche 754 Institute National de la Recherche Agronomique-Ecole National Veterinaire de Lyon-Universite Claude Bernard Lyon, Lyon, France, 2 Service de Genetique, Hopital de l'Hotel-Dieu, Lyon, France; Reseau de Recherche sur la Maladie de Rendu-Osler, France, 3 Laboratoire d'exploration fonctionnelle respiratoire, Hopital Louis Pradel, Lyon, France; Reseau de Recherche sur la Maladie de Rendu-Osler, France, 4 Laboratoire d'echocardiographie, Hopital Louis Pradel, Lyon, France; Reseau de Recherche sur la Maladie de Rendu-Osler, France, 5 Service de Radiologie, Hopital Louis Pradel, Lyon, France; Reseau de Recherche sur la Maladie de Rendu-Osler, France

* To whom correspondence should be addressed. E-mail: vincent.cottin{at}chu-lyon.fr.

Pulmonary arteriovenous malformations (PAVM) associated with hereditary hemorrhagic telangiectasia may cause severe cerebral complications that may be prevented by embolization therapy. We retrospectively compared the diagnostic value of non invasive tests for the screening of treatable (amenable to embolization) PAVM in a series of 105 patients, using chest computerized tomography (CT) and / or pulmonary angiography as gold standard. Patients had assessment of dyspnea, chest radiograph, alveolar arterial PO2 gradient under 100% oxygen (AaPO2), contrast echocardiography, and radionucleide 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 radionucleide 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 screening directly by chest CT. However, this algorithm may obviate the need of chest CT in patients without PAVM, who represent a majority of patients with hereditary hemorrhagic telangiectasia.


Key words: Pulmonary arteriovenous malformations, Hereditary hemorrhagic telangiectasia, Osler-Rendu-Weber disease, screening, contrast echocardiography, right-to-left shunting




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