致心律失常性右室心肌病的研究进展

致心律失常性右室心肌病或致心律失常性右室发育不良/心肌病是一种主要累及右室的心肌疾病,表现为室性心动过速和猝死。新近研究证明这种疾病不是一种少见疾病,患病率约为1/1000,50%~80%有家族史,是一种常染色体遗传性疾病。1994年的诊断标准导致诊断率较低。目前对诊断指标进行了修改,如胸前导联QRS时限延长。通过改进ECG记录方式可以发现更多的epsilon波。应用新的诊断标准将发现更多的有症状和无症状致心律失常性右室心肌病的患者。基因筛查特别是plakophil-in-2突变筛查将成为疾病重要的早期诊断工具。致心律失常性右室心肌病的治疗应在改变生活方式(包括限制参加竞技运动)的基础上,根据病情应用β阻滞剂、胺碘酮、索他洛尔和/或ICD治疗预防猝死。

Advances in Research of Arrhythmogenic Right Ventricular Cardiomyopathy

Arrhythmogenic right ventricular dysplasia/cardiomyopathy(ARVD/C) is a heart muscle disease characterized by peculiar right ventricular involvement and electrical instability that precipitates ventricular arrhythmias and sudden death.The latest advances in the diagnostic management of ARVC confirm that ARVC is not a rare disease(one affected in 1 000 to 1 250 inhabitants) and is of familial origin in 50% to 80% of cases,when it appears to follow an autosomal inheritance pattern.Diagnostic criteria defined in 1994 have contributed to low rates in the diagnosis of ARVC.Progress has been made in the definition of diagnostic markers.New criteria of localised right precordial QRS prolongation could be identified.The detection of epsilon potentials could be enhanced by highly amplified and modified recording techniques.After the characterisation of mutations in the plakophilin-2 gene,molecular genetics will become an important diagnostic tool.With the help of corrected and modified diagnostic criteria it seems to be possible to identify symptomatic and asymptomatic atrial fibrillation affected by ARVC with predominantly major criteria and,only in a minority of cases,minor criteria.Clinical research has indicated that successful treatment of ARVC is based on lifestyle modifications,prophylactic therapy(beta-blockers,amiodarone,sotalol,and ICD) to prevent sudden death.