Croonen Ellen A, van der Burgt Ineke, Kapusta Livia, Draaisma Jos M Th
Department of Pediatric Cardiology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Am J Med Genet A. 2008 Feb 1;146A(3):350-3. doi: 10.1002/ajmg.a.32140.
Noonan syndrome is a developmental disorder with distinctive facial features, short stature and cardiac abnormalities. In this cross-sectional study, we evaluated characteristic electrocardiographic (ECG) findings and cardiac abnormalities in 84 patients with Noonan syndrome, 56 (67%) of who were positive for a PTPN11 mutation. As reported previously, pulmonary stenosis was the most common cardiac abnormality, followed by atrial septal defect and hypertrophic cardiomyopathy. The ECG showed at least one characteristic finding in 50% of cases including left axis deviation in 38 (45%), small R waves in the left precordial leads in 20 (24%) and an abnormal Q wave in 5 (6%) patients with Noonan syndrome. A wide QRS complex was not detected in any of these patients. The characteristic ECG findings of Noonan syndrome patients were not associated with a PTPN11 gene mutation, or with a (specific) cardiac anomaly. We conclude that there are characteristic ECG findings in Noonan syndrome, but the ECG pattern is neither a useful tool for the phenotype characterization of a PTPN11 mutation, nor for the presence or type of cardiac abnormality.
努南综合征是一种具有独特面部特征、身材矮小和心脏异常的发育障碍。在这项横断面研究中，我们评估了84例努南综合征患者的特征性心电图（ECG）表现和心脏异常情况，其中56例（67%）携带PTPN11基因突变。如先前报道，肺动脉狭窄是最常见的心脏异常，其次是房间隔缺损和肥厚型心肌病。心电图在50%的病例中显示至少一项特征性表现，包括38例（45%）患者出现电轴左偏、20例（24%）患者左胸前导联R波变小以及5例（6%）努南综合征患者出现异常Q波。这些患者中均未检测到宽QRS波群。努南综合征患者的特征性心电图表现与PTPN11基因突变或特定心脏异常均无关。我们得出结论，努南综合征存在特征性心电图表现，但该心电图模式既不是用于PTPN11基因突变表型特征化的有用工具，也不是用于判断心脏异常的存在或类型的有用工具。
