title: Ruptured aneurysm of the sinus of Valsalva with Wildervanck syndrome (cervico-oculo-acoustic syndrome), blepharoptosis and short stature: case report.
abstract: A 62-year-old woman was admitted to hospital because of nausea. A grade 5/6 continuous murmur was audible near the left sternal border at the second intercostal space. Chest X-ray showed cardiomegaly and bilateral pleural effusion. She was diagnosed as heart failure and a diuretic was prescribed. After remission of the heart failure, echocardiography showed shunt flow from the right coronary cusp to the right ventricle. Aortography revealed that an aneurysm of the right coronary sinus of Valsalva had ruptured into the right ventricle. Coronary angiography revealed a single coronary artery. Chest computed tomography revealed persistent left superior vena cava. Surgical repair was carried out and the patient made an uneventful recovery. In addition to these cardiovascular abnormalities, she had Wildervanck syndrome (Klippel-Feil syndrome, Duane syndrome and sensorineural hearing disturbance), blepharoptosis and short stature. This rare combination has not been reported previously.
authors.affiliation: Division of Internal Medicine, Houjukinen Hospital, Nomi, Japan. k.ooe@im2.m.kanazawa-u.ac.jp
authors.forename: Kotaro
authors.initials: K
authors.lastname: Oe
authors.forename: Kiyoo
authors.initials: K
authors.lastname: Mori
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Konno
authors.forename: Takashi
authors.initials: T
authors.lastname: Yoneda
authors.forename: Katsushi
authors.initials: K
authors.lastname: Ueyama
authors.forename: Masakazu
authors.initials: M
authors.lastname: Yamagishi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology / Q000601:surgery; D017542:Aneurysm, Ruptured / Q000150:complications* / Q000235:genetics / Q000473:pathology / Q000601:surgery; D001763:Blepharoptosis / Q000150:complications* / Q000235:genetics / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics; D005260:Female; D006801:Humans; D008875:Middle Aged; D012422:Rupture, Spontaneous / Q000150:complications / Q000235:genetics / Q000473:pathology / Q000601:surgery; D012850:Sinus of Valsalva / Q000473:pathology / Q000601:surgery; D013577:Syndrome