核纤层蛋白心肌病的发病机制及诊治要点

Pathogenesis, diagnosis, and treatment of laminin cardiomyopathy

核纤层蛋白A/C位于核膜上。编码核纤层蛋白A/C的基因(LMNA)发生突变可通过一系列机制导致机体产生各种疾病,这一系列疾病统称为核纤层蛋白病,扩张型心肌病(dilated cardiomyopathy, DCM)便是其中之一。本文将介绍LMNA-DCM的发病率、病理生理机制、临床表型和治疗。

Lamin A/C is located on the nuclear membrane. Mutations in the gene coding for laminin A/C(LMNA) can lead to a variety of diseases, which is named laminopathy, through a series of mechanisms. Dilated cardiomyopathy(DCM) is one of them. This paper will introduce the incidence and prevalence, pathophysiological mechanism, clinical phenotype, and treatment of LMNA-DCM.