[Familial pulmonary arteriovenous malformation diagnostic of the Osler-Weber-Rendu disease].
A 53-year-old woman was admitted to the hospital for investigation of an abnormal shadow in the middle lobe of the right lung on a chest X-ray film. The filling of most of the shadowed area with contrast media on a chest CT scan suggested a vascular lesion. Further investigation by intravenous digital subtraction angiography and color doppler sonography led to the diagnosis of pulmonary arteriovenous malformation. An abdominal CT scan suggested the presence of an arteriovenous malformation in the liver, and a bronchoscopic study revealed telangiectatic lesions on the laryngeal mucosa. The patient's father had died at the age of 61, due to intracranial bleeding, which suggested he might have had an arteriovenous malformation in the brain. The patient's daughter has a pulmonary arteriovenous malformation. This family of vascular malformation indicates that the patient had Osler-Weber-Rendu disease. Osler-Weber-Rendu disease is an autosomal-dominant inherited disorder that may give rise to arteriovenous malformations, mainly in the lungs and the brain. We found that color doppler sonography can be useful for the diagnosis of pleural-based pulmonary arteriovenous malformation.
Akiyama
Y
Y
Department of Pulmonary Medicine, International Medical Center of Japan, Tokyo, Japan.
Takeda
Y
Y
Soma
T
T
Sato
T
T
Kamimura
M
M
Suzuki
N
N
Kawada
H
H
Suzuki
T
T
Kudo
K
K
D000328:Adult; D001165:Arteriovenous Malformations / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D011651:Pulmonary Artery / Q000002:abnormalities*; D011667:Pulmonary Veins / Q000002:abnormalities*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis / Q000235:genetics*; D018615:Ultrasonography, Doppler, Color