摘要
核纤层蛋白基因突变可引起心肌病,临床表现以进展性传导系统疾病最为常见,并进一步发展为心力衰竭,患者猝死率高。近年来核纤层蛋白基因相关性心肌病成为心肌病研究领域的热点,使核纤层蛋白基因相关性心肌病的早期诊断、干预和改善预后成为可能。现就常见的核纤层蛋白基因突变位点及其突变致心肌病机制做一综述。
Cardiomyopathy can be caused by the mutation of the LMNA gene ,which is clinically characterized by progressive conduc-tion diseases .Cardiomyopathy patients with LMNA mutations have a high risk of sudden cardiac death with progression to heart failure .Re-cently LMNA gene-related cardiomyopathy has become a hot research field ,which makes it possible to diagnose ,intervene in early stages and improve the prognosis possible .This article mainly focuses on the genetic traits and pathogenic mechanism of LMNA in cardiomyopathy .
出处
《心血管病学进展》
CAS
2016年第6期651-655,共5页
Advances in Cardiovascular Diseases
基金
国家自然科学基金(81470521)