Noonan syndrome is an inherited disorder caused by alterations in the RAS-MAPK pathway. There have been several identified genotype–phenotype associations made with respect to congenital cardiac lesions and Noonan syndrome variants, but limited data exist regarding single ventricle disease in this population. Here, we report two patients with PTPN11-related Noonan syndrome and hypoplastic left heart syndrome variants.

中文翻译：

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与左心发育不全综合征相关的努南综合征

努南综合征是一种由 RAS-MAPK 通路改变引起的遗传性疾病。已经确定了几种与先天性心脏病和努南综合征变异有关的基因型-表型关联，但关于该人群中单心室疾病的数据有限。在这里，我们报告了两名患有PTPN11相关努南综合征和左心发育不全综合征变异的患者。