Identification of a Novel DSP Variant in a Patient with Sudden Cardiac Death through Post-Mortem Genetic Investigation  

作　　者：Chenyu Wang Jiao Xiao Yutong Su Liangliang Fan Lei Zhu Rong Xiang 

机构地区：[1]Department of Cell Biology,The School of Life Sciences,Central South University,Changsha 410013,China 2Department of Obstetrics and Gynecology,OrdosCentralHospital,Ordos,Inner Mongolia,China 3Department of Forensic Science,School of Basic Medical Sciences,Central South University,Changsha,China

出　　处：《Cardiovascular Innovations and Applications》2024年第1期678-680,共3页心血管创新与应用(英文)

基　　金：supported by the Key Research and Development Program of Hunan Province(2022sk2034);Natural Science Foundation of Hunan Province(2022JJ30058);Natural Science Foundation of Hunan Province(2023JJ20078);Inner Mongolia Science and Technology Innovation Guidance Project(NM-KJCXYD-018).

摘　　要：Arrhythmogenic cardiomyopathy(ACM)is an inherited cardiomyopathy characterized pathologically by fibrofatty myocardial replacement,and clinically by prominent ventricular arrhythmias and impairment in ventricular systolic function[1].The prevalence of ACM among people experiencing sudden cardiac death is quite high.In the Veneto region of Italy,an autopsy investigation of 60 young people with sudden death identified that 12%had ACM on autopsy[2,3].

关 键 词：inherited cardiomyopathy fibrofatty myocardial replacementand impairment ventricular systolic function sudden cardiac death post mortem genetic investigation novel DSP variant autopsy investigation arrhythmogenic cardiomyopathy 

分 类 号：R542.2[医药卫生—心血管疾病]