Raaijmakers R, Noordam C, Noonan J A, Croonen E A, van der Burgt C J A M, Draaisma J M T
Department of Paediatric Cardiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Eur J Pediatr. 2008 Dec;167(12):1363-7. doi: 10.1007/s00431-008-0670-9. Epub 2008 Feb 13.
Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.
在所有努南综合征患者中，50% - 90% 有一个或多个先天性心脏缺陷。最常见的是肺动脉狭窄（PS）和肥厚型心肌病。努南综合征患者的心电图（ECG）常显示出特征性模式，包括电轴左偏、左胸前导联R/S比值异常以及异常Q波。本研究的目的是确定这些心电图特征是努南综合征的独立特征，还是与先天性心脏缺陷有关。对来自美国和荷兰两家大学医院的118名患者进行了一项队列研究。所有患者均被诊断为明确的努南综合征，并进行了心电图和超声心动图检查。69名患者（58%）有特征性心电图异常。在无心脏缺陷的患者组（n = 21）中，10名患者有特征性心电图异常。特征性心电图异常的存在与心脏缺陷的存在之间无统计学关系（p = 0.33）。肥厚型心肌病患者总的心电图异常更多（p = 0.05），但与特定的心电图异常无相关性。我们得出结论，努南综合征患者的心电图特征是该综合征的特征性表现，与特定的心脏缺陷无关。心电图在努南综合征的诊断中非常有用；每个具有努南表型的儿童都应进行心电图和超声心动图检查以进行评估。
