Sun Xiao-Lin, Zhao Jian-Xun, Chen Xiao-Jing, Zeng Zhi, Chen Yu-Cheng, Zhang Qing
Department of Cardiology, West China Hospital, Sichuan University.
Int Heart J. 2016;57(2):258-61. doi: 10.1536/ihj.15-343. Epub 2016 Mar 11.
A 12-year-old Chinese boy was admitted with dyspnea after exercise. Based on his clinical features, echocardiography tests, and family history, he was diagnosed with Noonan syndrome (NS) combined with noncompaction of the ventricular myocardium (NVM). Noonan syndrome (NS) is a common syndrome, but to the best of our knowledge, our case is the first reported case of NS combined with NVM. In our case, the detected mutated genes may be inherited and unreported genes caused NS or NVM. Our research may enrich our knowledge about NS and contribute to furthering our understanding of the pathogenesis and treatment. In summary, we present a unique case of NS combined with NVM.
一名12岁中国男孩因运动后呼吸困难入院。根据其临床特征、超声心动图检查及家族史，他被诊断为努南综合征（NS）合并心室心肌致密化不全（NVM）。努南综合征（NS）是一种常见综合征，但据我们所知，我们的病例是首例报道的NS合并NVM病例。在我们的病例中，检测到的突变基因可能是导致NS或NVM的遗传性且未报道过的基因。我们的研究可能会丰富我们对NS的认识，并有助于进一步了解其发病机制和治疗方法。总之，我们呈现了一例独特的NS合并NVM病例。
