Pathogenic genes and clinical prognosis in hypertrophic cardiomyopathy  

作　　者：Ying Hong Hu-Tao Xi Xin-Yi Yang Wilber W Su Xiao-Ping Li 

机构地区：[1]Institute of Cardiovascular Diseases&Department of Cardiology,Sichuan Provincial People’s Hospital,School of Medicine,University of Electronic Science and Technology of China,Chengdu 610072,Sichuan Province,China [2]Department of Cardiology,Chengdu University of Traditional Chinese Medicine,Chengdu 610075,Sichuan Province,China [3]Department of Cardiology,Banner-University Medical Center,Phoenix,AZ 85006,United States

出　　处：《World Journal of Cardiology》2025年第1期47-54,共8页世界心脏病学杂志(英文)

基　　金：Supported by National Natural Science Foundation of China,No.81770379 and 81470521.

摘　　要：Hypertrophic cardiomyopathy(HCM)is an autosomal dominant inherited cardiomyopathy characterized by left ventricular hypertrophy.It is one of the chief causes of sudden cardiac death in younger people and athletes.Molecular-genetic studies have confirmed that the vast majority of HCM is caused by mutations in genes encoding sarcomere proteins.HCM has a relatively wide phenotypic heterogeneity,varying from asymptomatic to sudden cardiac death,because of the many different mutations and pathogenic genes underlying it.Many studies have explored the clinical symptoms and prognosis of HCM,emphasizing the importance of genotype in evaluating patient prognosis and guiding the clinical management of HCM.To elaborate the main pathogenic genes and phenotypic prognosis in HCM to promote a better understanding of this genetic disease.Retrospective analysis of literature to evaluate the association between underlying gene mutations and clinical phenotypes in HCM patients.As sequencing technology advances,the pathogenic gene mutation spectrum and phenotypic characteristics of HCM are gradually becoming clearer.HCM is a widespread inherited disease with a highly variable clinical phenotype.The precise mechanisms linking known pathogenic gene mutations and the clinical course of this heterogeneous condition remain elusive.

关 键 词：Hypertrophic cardiomyopathy GENOTYPE PHENOTYPE Pathogenic genes PROGNOSIS 

分 类 号：R542.2[医药卫生—心血管疾病]