扩张型心肌病
医学
心肌病
心源性猝死
心脏病学
基因检测
猝死
内科学
心力衰竭
生物信息学
生物
作者
Ramone Eldemire,Luisa Mestroni,Matthew R.G. Taylor
出处
期刊:Annual Review of Medicine
[Annual Reviews]
日期:2023-10-03
卷期号:75 (1)
标识
DOI:10.1146/annurev-med-052422-020535
摘要
Dilated cardiomyopathy (DCM) is defined as dilation and/or reduced function of one or both ventricles and remains a common disease worldwide. An estimated 40% of cases of familial DCM have an identifiable genetic cause. Accordingly, there is a fast-growing interest in the field of molecular genetics as it pertains to DCM. Many gene mutations have been identified that contribute to phenotypically significant cardiomyopathy. DCM genes can affect a variety of cardiomyocyte functions, and particular genes whose function affects the cell–cell junction and cytoskeleton are associated with increased risk of arrhythmias and sudden cardiac death. Through advancements in next-generation sequencing and cardiac imaging, identification of genetic DCM has improved over the past couple decades, and precision medicine is now at the forefront of treatment for these patients and their families. In addition to standard treatment of heart failure and prevention of arrhythmias and sudden cardiac death, patients with genetic cardiomyopathy stand to benefit from gene mechanism–specific therapies. Expected final online publication date for the Annual Review of Medicine, Volume 75 is January 2024. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
科研通智能强力驱动
Strongly Powered by AbleSci AI