The diagnostic value of genetic testing in familial hypercholesterolemiainpatients with premature myocardial infarction  

作　　者：崔淯夏 CUI Yuxia(Dept Cardiol,Beijingg Early Predict&Intervent Acute Myocard Infarct Key Lab,Cardiovasc Translat Res Center,Peking Univ People's Hosp,Beijing 100044)

机构地区：[1]Dept Cardiol,Beijing Early Predict&Intervent Acute Myocard Infarct Key Lab,Cardiovasc Translat Res Center,Peking Univ People's Hosp,Beijing 100044

出　　处：《China Medical Abstracts(Internal Medicine)》2024年第2期98-98,共1页中国医学文摘（内科学分册（英文版）

摘　　要：Objective To evaluate the diagnostic value of gene testing in familial hypercholesterolemia(FH)in patients with premature myocardial infarction(PMI).Methods This study was a single center cross-sectional study.A retrospective analysis was made on PMI patients who visited the People's Hospital of Peking University from May 1,2015 to March 31,2017.Clinical data of patients were collected and gene testing of FH related genes lowdensity lipoprotei1nreceptor(LDLR),proprotein convertase subtilisin/kexin type 9(PCSK9),apolipoprotein B(APOB)and low density lipoprotein receptor adaptor protein 1(LDLRAP1)was carried out.Clinical diagnosis of FH patients was performed using Simon Broome criteria,DLCN criteria,and FH Chinese expert consensus.Results There were 188 males(83.6%)among 225 PMI patients,and the age of the first myocardial infarction was(46.6±7.2)years old.Ten patients carried FH pathogenic or possibly pathogenic mutations(4.4%).Compared with Simon Broome standard,DLCN standard and FH Chinese expert consensus,gene testing increased the diagnostic rate of FH by 53.3%,33.3%and 42.1%respectively.

关 键 词：INFARCTION TESTING FAMILIAL 

分 类 号：R542.22[医药卫生—心血管疾病] R589.2[医药卫生—内科学]