Male, 26 years old. Chest tightness and shortness of breath for 3 weeks after activity. Physical examination showed congenital foolishness, widened eye distance, webbed neck, low posterior hairline, funnel pectus, amblyopia, and almost no light sense in the left eye. Grade 4/VI systolic murmur can be heard between 3 and 4 costs at the left margin of the sternum. Eye ultrasound showed: Left eye lens subluxation, total retina detachment. Echocardiography showed thickening of the right ventricular wall with a ventricular septum thickness of 13 mm; Severe pulmonary stenosis, pulmonary artery transvalvular pressure difference 131 mmHg (1 mmHg =0.133 kPa); Secondary foraminal atrial septal defect. Peripheral blood gene detection showed that the patient had a misintended mutation in PTPN11 gene, which confirmed the diagnosis of Noonan syndrome.