Matsumoto A, Nitta M, Niwa A, Hosoda H, Shirai T, Sakamoto T, Suzuki A
Department of Internal Medicine, Musashino Red Cross Hospital, Tokyo, Japan.
Jpn Heart J. 1993 Sep;34(5):653-9. doi: 10.1536/ihj.34.653.
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 60 mmHg. The stenotic lesion had an area of 0.5 cm2, 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.
本文记录了一例41岁时确诊的威廉姆斯综合征罕见病例。首发主观症状为胸痛，除严重的主动脉瓣上狭窄（收缩期压差60 mmHg）外，患者还表现出许多其他特征。狭窄病变面积为0.5平方厘米，并伴有冠状动脉扩张和迂曲。成功实施了扩大主动脉成形术，术后病程良好，无任何心脏症状。尽管存在严重的心脏病变，但该病例在很大程度上无症状，并呈现出与成人该综合征诊断和管理相关的不寻常特征。该病例中发现的异常模式提示在胚胎器官发生过程中与降钙素/降钙素基因相关肽（CGRP）和弹性蛋白基因有关的问题。
