Loukas Marios, Dabrowski Marek, Kantoch Michal, Ruzyłło Witold, Waltenberger Johannes, Giannikopoulos Petros
Department of Pathology, Institute of Rheumatology, Warsaw, Poland.
Med Sci Monit. 2004 Dec;10(12):CS80-3.
Noonan syndrome is a rare disease, mainly presenting with malformations such as dysplasia and stenosis of the pulmonary valve, atrial septal defect and a typical pattern of hypertrophic cardiomyopathy. We report a case of Noonan syndrome with giant coronary aneurysms.
A young woman with the phenotypic characteristics of Noonan's syndrome presented with severe pulmonary stenosis and giant coronary aneurysms. Cross sectional echocardiography showed valvar and subvalvar pulmonary stenosis. The valve itself was thickened and dysplastic, a characteristic that is typical of Noonan's syndrome. In addition to the usual abnormalities of the pulmonary valve and the ventricular myocardium, the patient showed a wide spectrum of previously unreported coronary aneurysms.
These additional findings support the hypothesis that a vasculitic process has been superimposed on the connective tissue defect associated with Noonan's syndrome. Furthermore, since the pathogenesis of the condition remains unclear, this case stresses the need to look carefully for abnormalities co-expressed in Noonan's syndrome.
努南综合征是一种罕见疾病，主要表现为诸如肺动脉瓣发育异常和狭窄、房间隔缺损以及典型的肥厚型心肌病模式等畸形。我们报告一例患有巨大冠状动脉瘤的努南综合征病例。
一名具有努南综合征表型特征的年轻女性出现严重的肺动脉狭窄和巨大冠状动脉瘤。横断面超声心动图显示瓣膜及瓣膜下肺动脉狭窄。瓣膜本身增厚且发育异常，这是努南综合征的典型特征。除了肺动脉瓣和心室心肌的常见异常外，该患者还出现了一系列此前未报道过的冠状动脉瘤。
这些额外发现支持了这样一种假说，即血管炎过程叠加在了与努南综合征相关的结缔组织缺陷之上。此外，由于该病症的发病机制仍不清楚，此病例强调了仔细寻找在努南综合征中共表达的异常情况的必要性。
