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

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.T2278M using exome sequencing.This study has found a novel missense mutation in FBN2 gene (p.T2278M) resulting in AD in a family of China.