典型Stanford B型主动脉夹层患者携带FBN2基因p.T2278M突变1例

Identification of a FBN2 mutation p.T2278M in a patient with type B aortic dissection using exome sequencing:a case report

主动脉夹层（AD）是复杂而危险的心血管疾病之一,发病率为每年5/10万-30/10万,病死率高,主要发病机制为主动脉中层的弹力纤维、胶原蛋白变性及血管壁弹性降低,导致血管内膜易被撕裂,内流的主动脉血液撕开变性坏死的中层,导致动脉夹层的形成,严重时破裂出血,

Aortic dissection（AD）is one of the most complex and dangerous cardiovascular diseases with the high morbidity and mortality.Its incidence is estimated at three to four per 100 000 per year.The main mechanisms of aortic dissection involve in degeneration of the aortic media,loss of elasticity of the aortic wall and subsequently rupture of the vasorum with hemorrhage into the underlying diseased aortic media.The pathogenesis of AD in terms of gene and protein level is more and more concerned.Several genes are associated with AD,including TGFBR1,TGFBR2,MYH11,SMAD3 and ACTA2.Here,we report a case of a 35-year-old man who presented with type B aortic dissection.We identified of a FBN2 mutation p.T2278 M using exome sequencing.This study has found a novel missense mutation in FBN2 gene（p.T2278 M）resulting in AD in a family of China.