Williams Syndrome : A Middle-aged Case of Markedly Delayed Diagnosis
スポンサーリンク
概要
- 論文の詳細を見る
A rare case of Williams syndrome diagnosed at the age of 41 is documented. The first subjective symptom was chest pain and the patient displayed many other features in addition to severe supravalvular aortic stenosis with a systolic gradient of 60mmHg. The stenotic lesion had an area of 0.5cm2, and was associated with dilated and tortuous coronary arteries. Extended aortoplasty was successfully performed and the postoperative course has been excellent without any cardiac symptoms. In spite of the severe cardiac lesions, this case had been largely asymptomatic and presented unusual features related to the diagnosis and management of this syndrome in an adult. The pattern of abnormalities found in this case suggested problems in relation to the calcitonin/calcitonin gene related peptide (CGRP) and the elastin gene occurring in embryonic organogenesis.
著者
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Shirai Toshizumi
Department Of Thoracic Surgery Ome Municipal General Hospital
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Hosoda Hiroshi
Department Of Biochemistry National Cardiovascular Center Research Institute
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Sakamoto Toru
Department Of Pulmonary Medicine And University Medical School Teaching Hospital Tokyo Medical And D
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Matsumoto Akiko
Department Of Food Science Kyoto Women's University
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Niwa Akihiro
Department Of Cardiology Hiratsuka Kyosai Heart Center
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Suzuki Akio
Department Of Biological Science Faculty Of Science Graduate School Of Science And Technology Kumamo
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NITTA Masao
Department of Internal Medicine, Musashino Red Cross Hospital
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Suzuki Akio
Department of Applied Chemistry, Faculty of Engineering, Yamagata University
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NIWA Akihiro
Department of Internal Medicine, Musashino Red Cross Hospital
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