PDF(Pubmed)
Abstract：
Noonan syndrome (NS) is a pleomorphic genetic disorder. Up to 50-80% of individuals have associated congenital heart disease. The scope of cardiac disease in NS is quite variable depending on the gene mutation. The most common forms of cardiac defects include pulmonary stenosis, hypertrophic cardiomyopathy (HCM), atrial septal defect and left-sided lesions. Amongst the rare vascular abnormalities few case reports have been mentioned about coronary artery lesions apart from sinus of Valsalva aneurysm, aortic dissection, intracranial aneurysm. This is a case report a rare case of asymptomatic coronary artery aneurysm in a young male with NS. There is lack of unified protocol for the screening, diagnosis, treatment, and follow-up of coronary artery disease in patients with NS. We conclude, echocardiography is sufficient in most cases in children. But a CT scan is appropriate in adults or when other lesions are suspected.
摘要：
努南综合征（NS）是一种多形性遗传疾病。高达50-80%的个体患有相关的先天性心脏病。根据基因突变，NS中心脏病的范围变化很大。最常见的心脏缺陷包括肺动脉瓣狭窄,肥厚型心肌病（HCM），房间隔缺损和左侧病变。在罕见的血管异常中，除了Valsalva动脉瘤窦外，很少有关于冠状动脉病变的病例报告。主动脉夹层,颅内动脉瘤.这是一例罕见的无症状性冠状动脉瘤的病例。筛查缺乏统一的协议，诊断,治疗,并对NS患者的冠状动脉疾病进行随访。我们得出结论，在大多数情况下，超声心动图是足够的儿童。但是，在成人或怀疑其他病变时，CT扫描是合适的。
