主动脉瘤相关基因突变对二叶主动脉瓣患者主动脉病变的影响  

Effect of aortic aneurysm-related gene mutation on aortic lesions in patients with bicuspid aortic valve

作　　者：张翠红 杨娅[2] 闫有青 陈正光[3] 张智翔 马群群 芦文彬 赵昱晗 黄青霞 ZHANG Cuihong;YANG Ya;YAN Youqing;CHEN Zhengguang;ZHANG Zhixiang;MA Qunqun;LU Wenbin;ZHAO Yuhan;HUANG Qingxia(Department of Ultrasound,Fengtai Hospital of Integrated Traditional Chinese and Modern Medicine,Beijing 100071,China;Echocardiography Medical Center,Beijing Anzhen Hospital of Capital Medical University,Beijing 100029,China;Department of Radiology,Dongzhimen Hospital of Beijing University of Chinese Medicine,Beijing 100700,China;Graduate School,Hebei North University,Zhangjiakou 075031,China;Department of Ultrasound,Chuiyangliu Hospital of Tsinghua University,Beijing 100022,China;Department of Ultrasound,Suzhou Hospital Affiliated of Nanjing Medical University,Suzhou 215000,China)

机构地区：[1]北京市丰台中西医结合医院超声科,北京100071 [2]首都医科大学附属北京安贞医院心脏超声医学中心,北京100029 [3]北京中医药大学东直门医院放射科,北京100700 [4]河北北方学院研究生院,河北张家口075031 [5]清华大学附属垂杨柳医院超声科,北京100022 [6]南京医科大学附属苏州医院超声科,江苏苏州215000

出　　处：《中国中西医结合影像学杂志》2024年第6期661-665,共5页Chinese Imaging Journal of Integrated Traditional and Western Medicine

基　　金：南京医科大学姑苏学院科研项目(GSKY20220407)。

摘　　要：目的:主动脉瘤相关基因突变对二叶主动脉瓣(BAV)患者主动脉扩张及瓣膜功能的影响。方法:选取BAV伴主动脉扩张的患者114例,均行超声心动图检查,评估其主动脉窦部、升主动脉、主动脉弓的最大径、瓣膜的功能等;收集患者外周血,对主动脉瘤相关基因进行筛查。依据基因检测结果分为突变组12例和未突变组102例。结果:突变组中,FBN1基因突变7例、COL3A1基因突变2例、MYLK基因突变1例、TGFBR1基因突变1例,TGFBR2基因突变1例;114例存在主动脉瘤72例,发生率63.16%。突变组主动脉瘤发生率(100.00%)显著高于未突变组(58.82%),窦部瘤合并升主动脉动脉瘤发生率(41.67%)显著高于未突变组(5.89%),差异均有统计学意义(χ^(2)=6.154,P=0.013;χ^(2)=11.993,P=0.001)。突变组主动脉瓣反流率(75.00%)显著高于未突变组(34.31%),差异有统计学意义(χ^(2)=5.881,P=0.015)。突变组主动脉窦部平均最大径显著大于未突变组,差异有统计学意义(t=2.905,P=0.014)。突变组中合并主动脉瘤患者主动脉窦部平均最大径大于未突变组,差异有统计学意义(t=2.521,P=0.027)。结论:在BAV伴主动脉扩张中主动脉瘤相关基因发生突变患者的主动脉瘤的发生率高于未突变组,可能是基因突变引起的解剖学异常及血流动力学异常共同导致。Objective:To investigate the effect of aortic aneurysm-related gene mutation on aortic dilatation and valvular function in patients with bicuspid aortic valve(BAV).Methods:A total of 114 patients with BAV and aortic dilatation were collected.Echocardiography was performed to assess the maximum diameter of the aortic sinus,ascending aorta,aortic arch and the valve function.The peripheral blood was collected,and the genes related to aortic aneurysm were screened.According to the results of genetic testing,114 patients were divided into the mutant group(12 cases)and the non-mutant group(102 cases).Results:In the mutant group,7 cases were FBN1 mutation,2 cases were COL3A1 mutation,1 case was MYLK mutation,1 case was TGFBR1 mutation,and 1 case was TGFBR2 mutation.There were 72 aortic aneurysms in 114 patients(63.16%).The incidence of aortic aneurysm in the mutant group(100.00%)was significantly higher than that in the non-mutant group(58.82%),and the incidence of sinus aneurysm with ascending aortic aneurysm in the mutant group(41.67%)was significantly higher than that in the non-mutant group(5.89%)(both P<0.05).The incidence of aortic regurgitation in the mutant group(75.00%)was significantly higher than that in the non mutant group(34.31%)(χ^(2)=5.881,P=0.015).The maximum diameter of aortic sinus in the mutant group was significantly higher than that in the non-mutant group(t=2.905,P=0.014).The maximum diameter of aortic sinus in patients companied with ascending aortic aneurysm in the mutant group was significantly higher than that in the non-mutant group(t=2.521,P=0.027).Conclusions:The incidence of aortic aneurysm in BAV patients with aortic aneurysm-related gene mutation is higher than that in patients without gene mutation,which may be caused by abnormal anatomy and hemodynamics.

关 键 词：超声心动图 二叶主动脉瓣 主动脉扩张 主动脉瘤 基因 

分 类 号：R542.52[医药卫生—心血管疾病] R540.45[医药卫生—内科学]