致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)是一种遗传性心肌病,常因心室电学的不稳定性而出现室性心动过速、室颤等恶性心律失常,甚至导致猝死.因而对ARVC患者进行危险分层,指导恶性事件的预防和...致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)是一种遗传性心肌病,常因心室电学的不稳定性而出现室性心动过速、室颤等恶性心律失常,甚至导致猝死.因而对ARVC患者进行危险分层,指导恶性事件的预防和治疗十分必要.目前,对于ARVC的治疗主要是针对室颤导致心脏骤停、晕厥、持续性室性心动过速等有症状患者置入ICD.对于具有猝死家族史、严重右室功能不良、心内电生理检查可诱发室性心动过速或室颤等传统危险因素,但无症状的患者是否预防性置入ICD尚存在争议.展开更多
Arrhythmogenic right ventricular cardiomyopathy(ARVC)is a progressive disease characterized by adipose and fibrous replacement of the myocardium.While elevated testosterone levels have been implicated in the pathologi...Arrhythmogenic right ventricular cardiomyopathy(ARVC)is a progressive disease characterized by adipose and fibrous replacement of the myocardium.While elevated testosterone levels have been implicated in the pathological process of ARVC,its exact contribution to cardiac fibrosis in ARVC remains unclear.In this study,we analyzed the potential contribution of gender-based differences on the distribution of the low-voltage area in an ARVC cohort undergoing an electrophysiological study,which was indicated by feature selection.Additionally,we established engineered cardiac spheroid models in vitro using patient-specific induced pluripotent stem cell(iPSC)-derived cardiomyocytes(iPSC-CMs)and iPSC-derived cardiac fibroblasts(icFBs).We elucidated the pathogenicity of abnormal splicing in the plakophilin-2(PKP2)gene caused by an intronic mutation.Additionally,pathogenic validation of the desmoglein-2(DSG2)point mutation further confirms the reliability of the models.Moreover,testosterone exacerbated the DNA damage in the mutated cardiomyocytes and further activated myofibroblasts in a chain reaction.In conclusion,we designed and constructed an in vitro three-dimensionally-engineered cardiac spheroid model of ARVC based on clinical findings and provided direct evidence of the fibrotic role of testosterone in ARVC.展开更多
目的:探究超声心动图联合心电图对致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)的诊断价值,为疾病诊断及治疗方案的制订提供依据。方法:选取2015年9月至2017年10月经心内膜活检证实的39例ARVC患者作...目的:探究超声心动图联合心电图对致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)的诊断价值,为疾病诊断及治疗方案的制订提供依据。方法:选取2015年9月至2017年10月经心内膜活检证实的39例ARVC患者作为研究对象,均行超声心动图与心电图检查,对超声心动图与心电图的主要表现进行统计分析,并比较超声心动图联合心电图诊断与超声心动图、心电图单一方法诊断ARVC的阳性率。结果:超声心动图主要表现为右室增大(89.74%)、右室肌小梁紊乱(76.92%)、右室流出道增宽(66.67%)、右室壁弥漫性变薄(66.67%)、右房增大(51.28%)等;心电图主要表现为V1~V3导联QRS波增宽超过110 ms(69.23%)、V1~V3导联T波倒置(61.54%)、出现Epsilon波(35.90%)。应用超声心动图联合心电图诊断的阳性率为89.74%,均高于心电图(阳性率66.67%)、超声心动图(阳性率30.77%)单一诊断,差异有统计学意义(P<0.05)。结论:超声心动图联合心电图诊断可明显提高ARVC诊断阳性率,减少漏诊,为临床制订早期防治方案提供可靠依据。展开更多
文摘致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)是一种遗传性心肌病,常因心室电学的不稳定性而出现室性心动过速、室颤等恶性心律失常,甚至导致猝死.因而对ARVC患者进行危险分层,指导恶性事件的预防和治疗十分必要.目前,对于ARVC的治疗主要是针对室颤导致心脏骤停、晕厥、持续性室性心动过速等有症状患者置入ICD.对于具有猝死家族史、严重右室功能不良、心内电生理检查可诱发室性心动过速或室颤等传统危险因素,但无症状的患者是否预防性置入ICD尚存在争议.
基金supported by the National Natural Science Foundation of China(Nos.82370322 to CC,82200352 to FZ,82300352 to YZ,22275034 to HX,and 82070343 to MLC)the Natural Science Foundation of Jiangsu Province of China(Nos.BK20220710 to FZ and BK20230733 to YZ)Postgraduate Research&Practice Innovation Program of Jiangsu Province(No.JX13414086 to HYC).
文摘Arrhythmogenic right ventricular cardiomyopathy(ARVC)is a progressive disease characterized by adipose and fibrous replacement of the myocardium.While elevated testosterone levels have been implicated in the pathological process of ARVC,its exact contribution to cardiac fibrosis in ARVC remains unclear.In this study,we analyzed the potential contribution of gender-based differences on the distribution of the low-voltage area in an ARVC cohort undergoing an electrophysiological study,which was indicated by feature selection.Additionally,we established engineered cardiac spheroid models in vitro using patient-specific induced pluripotent stem cell(iPSC)-derived cardiomyocytes(iPSC-CMs)and iPSC-derived cardiac fibroblasts(icFBs).We elucidated the pathogenicity of abnormal splicing in the plakophilin-2(PKP2)gene caused by an intronic mutation.Additionally,pathogenic validation of the desmoglein-2(DSG2)point mutation further confirms the reliability of the models.Moreover,testosterone exacerbated the DNA damage in the mutated cardiomyocytes and further activated myofibroblasts in a chain reaction.In conclusion,we designed and constructed an in vitro three-dimensionally-engineered cardiac spheroid model of ARVC based on clinical findings and provided direct evidence of the fibrotic role of testosterone in ARVC.
文摘目的:探究超声心动图联合心电图对致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)的诊断价值,为疾病诊断及治疗方案的制订提供依据。方法:选取2015年9月至2017年10月经心内膜活检证实的39例ARVC患者作为研究对象,均行超声心动图与心电图检查,对超声心动图与心电图的主要表现进行统计分析,并比较超声心动图联合心电图诊断与超声心动图、心电图单一方法诊断ARVC的阳性率。结果:超声心动图主要表现为右室增大(89.74%)、右室肌小梁紊乱(76.92%)、右室流出道增宽(66.67%)、右室壁弥漫性变薄(66.67%)、右房增大(51.28%)等;心电图主要表现为V1~V3导联QRS波增宽超过110 ms(69.23%)、V1~V3导联T波倒置(61.54%)、出现Epsilon波(35.90%)。应用超声心动图联合心电图诊断的阳性率为89.74%,均高于心电图(阳性率66.67%)、超声心动图(阳性率30.77%)单一诊断,差异有统计学意义(P<0.05)。结论:超声心动图联合心电图诊断可明显提高ARVC诊断阳性率,减少漏诊,为临床制订早期防治方案提供可靠依据。
