Nora J J, Lortscher R H, Spangler R D
Am J Dis Child. 1975 Dec;129(12):1417-20. doi: 10.1001/archpedi.1975.02120490031010.
Echocardiography has been used for cardiovascular evaluation of individuals and families with Ullrich-Noonan syndrome. Previously undiagnosed left ventricular disease has been found as a discrete lesion or in association with other cardiac abnormalities. This raises the estimated frequency of heart disease in the Ullrich-Noonan syndrome to about 50%. Since left ventricular disease in this syndrome may not be entirely typical of asymmetric septal hypertrophy, caution should be exercised in the echocardiographic diagnosis. To date, one notable difference between the echocardiograms in these patients and other patients with asymmetric septal hypertrophy is the absence of systolic anterior motion of the mitral valve. Since the most common cardiac lesion the the Ullrich-Noonan syndrome is pulmonary stenosis, the potential for septal thickening produced by severe pulmonary stenosis must also be taken into account.
超声心动图已被用于对患有乌尔里希-努南综合征的个体和家庭进行心血管评估。此前未被诊断出的左心室疾病已被发现为一种离散性病变或与其他心脏异常相关。这使得乌尔里希-努南综合征中心脏病的估计发生率提高到约50%。由于该综合征中的左心室疾病可能并不完全具有不对称性室间隔肥厚的典型特征，因此在超声心动图诊断中应谨慎行事。迄今为止，这些患者的超声心动图与其他不对称性室间隔肥厚患者之间的一个显著差异是二尖瓣无收缩期前向运动。由于乌尔里希-努南综合征中最常见的心脏病变是肺动脉狭窄，因此还必须考虑严重肺动脉狭窄所导致的室间隔增厚的可能性。
