医学
心肌病
肥厚性心肌病
心脏病学
指南
限制性心肌病
扩张型心肌病
内科学
心力衰竭
心源性猝死
人口
猝死
基因检测
病理
环境卫生
作者
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical …,Junhui Sun,Shuai Han,Jinzhu Hu,Chenyang Jiang,Qing Wang,Liangrong Zheng,Zhou Zhou,Ming Qi
出处
期刊:PubMed
日期:2020-03-10
卷期号:37 (3): 300-307
被引量:2
标识
DOI:10.3760/cma.j.issn.1003-9406.2020.03.013
摘要
Cardiomyopathies are a group of heterogeneous diseases which can be caused by various factors (often genetic) and can lead to heart failure, arrhythmia and sudden death. Primary cardiomyopathies includes hereditary hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, mitochondrial cardiomyopathy, mixed (hereditary and acquired) dilated cardiomyopathy and restrictive cardiomyopathy, left ventricular densification insufficiency, and other unclassified cardiomyopathies. With the help of genomic technology, common mutations in the population have been identified. In vivo and in vitro study of such mutations has provided insight into the pathogenesis and treatment of these diseases. The compilation of this guideline is based on the consensus of basic and clinical research and guidelines from other countries, and has summarized the phenotype, diagnosis, treatment and consultation of various types of genetic cardiomyopathies with an aim to standardize the clinical management of patients.
科研通智能强力驱动
Strongly Powered by AbleSci AI