关键词: 马凡综合征, 升主动脉扩张, 二尖瓣关闭不全, 基因

Abstract: Objective To recognize the gender differences in cardiovascular presentation of Marfan syndrome by investigating a Han family of fibrillin-1(FNB1) mutation. Methods Cardiovascular involvement of all family members were collected and analyzed. Peripheral blood samples were collected from the proband and his family members with informed consent. Genomic DNA was isolated from peripheral blood leukocytes. The full 65 coding exons and their relevant exon-intron boundaries of the FBN1 gene were amplified using primers designed according to the published sequence of FBN1. After purification, the PCR products were subjected to automatic DNA sequencing. Results 13 patients were identified. All affected individuals carried mutation of c.5431G>A (p.Glu1811Lys)in FBN1, however, normal members had no mutation. Four male patients suffered from sudden death, one has dilated cardiomyopathy and the other 4 males have ascending aorta (AA) dilation. One female patient died of heart failure and the other three females have severe mitral valve regurgitation without AA dilation. Conclusions Significant gender differences on cardiovascular presentation may exist even in one family of Marfan syndrome with the same FBN1 mutation.

Key words: Marfan syndrome, ascending aorta dilation, mitral regurgitation, gene