摘要
目的:确定与受磷蛋白基因(PLN)突变相关的表型谱。背景:遗传因素可促进扩张性心肌病的发生。编码PLN的基因突变与以疾病早发和致死性室性心律失常为特征的扩张性心肌病相关。
Objectives: The purpose of this research was to determine the phenotypic spectrum associated with phospholamban gene (PLN) mutations. Background: Inheritance contributes to the development of dilated cardiomyopathy. Mutations in the gene encoding PLN have been associated with dilated cardiomyopathy characterized by early onset and the presence of lethal ventricular arrhythmias. Methods: We screened a cohort of 260 unrelated dilated cardiomyopathy patients from a tertiary care referral center for mutations in the PLN gene. Results: Family history of cardiomyopathy was present in approximately one-half the individuals in this cohort. We identified 1 family with a deletion of arginine 14 in the PLN. Interestingly, unlike other individuals reported with the identical PLN mutation, these individuals were not diagnosed with dilated cardiomyopathy until their seventh decade when they were only mildly symptomatic with congestive heart failure. Conclusions: The identical PLN mutation can be associated with both mild and severe forms of dilated cardiomyopathy. Additionally, PLN mutations should be considered in late onset cardiomyopathy.
