随着对致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)研究的进展,目前已不再认为ARVC只是桥粒蛋白基因突变引起的一种累及右室的遗传性心肌病。ARVC可以由非桥粒蛋白的多种基因突变或非遗传因素引起,...随着对致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)研究的进展,目前已不再认为ARVC只是桥粒蛋白基因突变引起的一种累及右室的遗传性心肌病。ARVC可以由非桥粒蛋白的多种基因突变或非遗传因素引起,并且可以首先累及左室。因此,2019年制定ARVC诊断标准的国际专家组提出了该病的新的临床分型,并对2010年的诊断标准作出了新的评价。本文就ARVC的临床分型、致病基因、诊断及治疗研究进展等方面进行综述。展开更多
目的探讨致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)的临床特点及心电图表现。方法对本院在2015年1月至2018年1月收治的29例ARVC患者的临床资料进行回顾性分析,观察患者的临床特点及其胸部X线片、...目的探讨致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)的临床特点及心电图表现。方法对本院在2015年1月至2018年1月收治的29例ARVC患者的临床资料进行回顾性分析,观察患者的临床特点及其胸部X线片、心脏超声心动图、心脏MRI和心电图检查结果的特征性表现,重点分析心电图特征。结果 29例患者中,临床特点表现为室性心律失常的占34.48%,右心衰竭占17.24%,无症状型占48.28%,无症状型占比较高(P=0.01);48.28%的患者超声发现右心增大伴三尖瓣反流,48.28%的患者X线片发现右心增大,48.28%的患者心电图检查发现V_1~V_3导联表现出Epsilon波。将V_1~V_3、V_4~V_6导联QRS平均值分别记作QRS_1和QRS_2。所有患者平均QRS_1为(0.13±0.04)s,平均QRS_2为(0.12±0.02)s;QRS_1≥0.13 s的患者占37.93%,QRS_1/QRS_2≥1.2的患者占62.07%。V_1~V_3导联T波倒置者占31.03%。结论 ARVC患者临床主要表现为无症状型及心律失常型。心电图特点是出现Epsilon波与右胸导联QRS波延长。掌握心电图特点为临床提供了ARVC诊断线索,对降低误诊率有一定的价值。展开更多
Background Arrhythmogenic right ventricular cardiomyopathy （ARVC） is one of the leading causes of sudden cardiac death. Recent studies have shown that ARVC, which is an inheritable genetic change, results from mutat...Background Arrhythmogenic right ventricular cardiomyopathy （ARVC） is one of the leading causes of sudden cardiac death. Recent studies have shown that ARVC, which is an inheritable genetic change, results from mutations in genes encoding desmosomal proteins. Plakophilin-2 is an important component of the desmosome. Because the full range of genetic variations related to ARVC is unknown and no related studies of the Chinese population have been reported, we aimed to investigate the genetic variation of plakophilin-2 in ARVC patients from the Southern Region of China. Methods Genomic DNA was isolated from peripheral blood samples of all 34 ARVC patients, who were screened through a clinical evaluation. They were used to detect variations in the sequences of the plakophilin-2 genes by polymerase chain reaction amplification in combination with direct sequencing. Results In exon-1 of the plakophilin-2 gene, a deletion mutation （c.145_148 del GACA） was found in one family pedigree. The mutation was also found in exon-2, 4, and 11 of the plakophilin-2 gene. The QT interval dispersion of the ECG was considerably longer in the mutation group than in the non-mutation group of ARVC patients, and this result was statistically significant （P 〈0.05）. Conclusion We discovered a plakophilin-2 mutation that prolongs the QT interval dispersion in the southern Chinese ARVC population.展开更多
文摘随着对致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)研究的进展,目前已不再认为ARVC只是桥粒蛋白基因突变引起的一种累及右室的遗传性心肌病。ARVC可以由非桥粒蛋白的多种基因突变或非遗传因素引起,并且可以首先累及左室。因此,2019年制定ARVC诊断标准的国际专家组提出了该病的新的临床分型,并对2010年的诊断标准作出了新的评价。本文就ARVC的临床分型、致病基因、诊断及治疗研究进展等方面进行综述。
文摘Background Arrhythmogenic right ventricular cardiomyopathy （ARVC） is one of the leading causes of sudden cardiac death. Recent studies have shown that ARVC, which is an inheritable genetic change, results from mutations in genes encoding desmosomal proteins. Plakophilin-2 is an important component of the desmosome. Because the full range of genetic variations related to ARVC is unknown and no related studies of the Chinese population have been reported, we aimed to investigate the genetic variation of plakophilin-2 in ARVC patients from the Southern Region of China. Methods Genomic DNA was isolated from peripheral blood samples of all 34 ARVC patients, who were screened through a clinical evaluation. They were used to detect variations in the sequences of the plakophilin-2 genes by polymerase chain reaction amplification in combination with direct sequencing. Results In exon-1 of the plakophilin-2 gene, a deletion mutation （c.145_148 del GACA） was found in one family pedigree. The mutation was also found in exon-2, 4, and 11 of the plakophilin-2 gene. The QT interval dispersion of the ECG was considerably longer in the mutation group than in the non-mutation group of ARVC patients, and this result was statistically significant （P 〈0.05）. Conclusion We discovered a plakophilin-2 mutation that prolongs the QT interval dispersion in the southern Chinese ARVC population.
