马凡综合征2例临床及FBN1基因分析

Clinical features of Marfan syndrome and analysis of FBN1 gene mutation

目的探讨马凡综合征(MFS)的临床特点及其致病基因原纤维蛋白-1(FBN1)突变的特点。方法回顾分析2例MFS患儿的临床资料,并复习相关文献。结果例1患儿,男,1岁10个月,特殊面容,双下眼睑水肿,高腭弓、手指及足趾细长;双肺闻及少许湿啰音,心尖部闻及收缩期杂音;彩色超声心动图示主动脉冠状窦扩张,主、肺动脉增宽,左心室憩室,二尖瓣少量反流,三尖瓣中量反流;心电图显示不完全右束支传导阻滞;基因检测FBN1基因存在c.3037G>A突变(p.Gly1013Arg)。例2患儿,男,12岁,体型瘦长,四肢表现为蜘蛛样指/趾,高度近视,主动脉瓣第一、二听诊区可闻及2/6级收缩期及舒张期杂音;心脏彩超示主动脉窦部明显增宽,主动脉瓣关闭不全,肺动脉瓣轻度返流,左室增大;基因检测FBN1存在c.1876G>A杂合突变(p.Gly626Arg),该突变未见报道。结论 FBN1基因检测可确诊MFS,发现一新突变c.1876G>A(p.Gly626Arg)。

Objective To explore the clinical features of Marfan syndrome （MFS） and its virulence gene mutation of FBN1. Methods Clinical data of 2 children with MFS were retrospectively analyzed, and pertinent literatures were reviewed. Results Case one was a 1 year and 10 months old boy with a special face, bilateral lower eyelid edema, high palatal arch, slender fingers and toes. A little of moist rales in lung could be heard, and systolic accentuated in apex could be heard too. Echocardiography showed that aortic coronary sinus dilated, aorta and pulmonary artery broadened, left ventricular diverticulum, a small amount of mitral regurgitation,and moderate tricuspid regurgitation. Electrocardiogram showed incomplete right bundle branch block. Gene detection found a c.3037G 〉 A mutation （p.Gly1013Arg） in FBN1. Case two was a 12 years old slender boy with spider-like fnger/toe, high myopia, 2/6 systolic and diastolic murmur in the frst and two auscultation area in aortic valves. Echocardiography showed the aortic sinus signifcantly broadened, aortic incompetence, mild pulmonary regurgitation and left ventricular enlargement. Gene detection found heterozygous mutation of c.1876G 〉 A （p.Gly626Arg） in FBN1, which has not been reported. Conclusion The diagnosis of MFS can be confrmed by FBN1 gene detection. A new mutation of c.1876G 〉 A （p.Gly626Arg） was detected.