致心律失常性右室心肌病研究进展

致心律失常性右室心肌病以右心室心肌逐渐被脂肪和纤维组织替代而继发室性心律失常为主要特征的遗传性心肌病,多见于年轻人和运动员,可发生心力衰竭或心源性猝死。诊断依靠 ECG、形态学改变以及家族遗传病史等,治疗效果不佳,预后不良,是目前临床上危害严重的进行性心肌病变。在病因、遗传基础、诊疗手段、疾病进程等方面尚存在许多有待解决的问题,已引起国际各医疗机构的广泛关注,笔者现就其相关研究进展作一简介。     

致心律失常性右室心肌病研究进展

致心律失常性右室心肌病研究进展黄元铸邹建刚陈椿致心律失常性右室发育不良（Ａｒｒｈｙｔｈｍｏｇｅｎｉｃｒｉｇｈｔｖｅｎｔｒｉｃｕｌａｒｄｙｓｐｌａｓｉａ，ＡＲＶＤ），于１９７７年由Ｆｏｎｔａｉｎｅ命名。１９９５年ＷＨＯ将其更名为致心律失常性右室心肌病（...     

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。     

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（ARVC）,又称致心律失常性右室发育不良／心肌病（ARVD／C）为遗传性原发性心肌疾病,呈常染色体显性遗传,为运动猝死中常见的病因,占年轻猝死病的20％,大多数病例死亡时的年龄〈40岁,有些发生于儿童。ARVC的病理特征为右心室内的心肌萎缩和纤维脂肪组织替代。以左束支阻滞图形的单形性室性心动过速为特征的、具有多种临床表型的心肌病。以右心室受累为主,晚期可累及左室。尽管心力衰竭是疾病晚期的重要并发症,但ARVD／C主要表现为室性心律失常和心脏性猝死（SCD）。     

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（ARVC）是以右室心肌不同程度的被脂肪组织或纤维组织替代为特征的一种常染色体遗传性心肌病。临床上常表现为室性心律失常,进行性心力衰竭,甚至心源性猝死。有时起病隐匿,无症状患者于尸检后才作出诊断,也有部分患者以猝死为首发症状。临床上主要靠心电图,电生理学检查,以及影像学检查提供诊断依据,但心内膜心肌活检仍是确诊的金标准。ARVC治疗包括抗心律失常药物,置入埋藏式心律转复除颤器（ICD）,导管射频消融以及心脏移植。     

致心律失常性右室心肌病

致心律失常性右室心肌病(Arrhythmogenic right ventricular cardiom yopathy,ARVC)是一种主要影响右室的心肌病,其病理学特点是正常心肌组织逐渐被脂肪组织和纤维组织所取代。ARVC是引起<30岁人群中猝死的最重要原因。有报道在年轻人群中近20%的猝死是ARVC引起的犤1犦。近年来,ARVC越来越受到重视。本文对ARVC的定义、病因、临床特点、诊断、治疗等作一介绍。一.ARVC的定义1977年,Fontaine报道了6例无明显器质性心脏病的持续性室性心动过速病人,这6例病人应用抗心律失常药物后均疗效不佳。进一步研究表明这些病人均存在着以右室…     

致心律失常性右室心肌病

本文就致心律失常性右室心肌病的遗传因素、形态学特征、病因、心电图（ECG）及临床表现、诊断、治疗等方面做一综述。     

致心律失常性右室心肌病

致心律失常性右室心肌病（ａｒｒｈｙｔｈｍｏｇｅｎｉｃｒｉｇｈｔｖｅｎｔｒｉｃｕｌａｒｃａｒｄｉｏｍｙｏｐａｔｈｙ,ＡＲＶＣ）是一种原因不明的心肌疾病,病变主要累及右室（ＲＶ）,以ＲＶ心肌不同程度地被脂肪或纤维脂肪组织代替为特征。临床主要表现为室性心律...     

致心律失常性右室心肌病的遗传学研究进展

致心律失常性右室心肌病(Arrhythmogenic right ventricular cardiomyopathy,ARVC)是一种右室心肌细胞被纤维脂肪细胞所取代,主要临床表现为室性心律失常和心源性猝死的心肌病。ARVC具有早期症状的隐匿性和临床表型的多样性,分子遗传学的发展为ARVC的早期诊断提供了新的突破。越来越多的研究表明桥粒蛋白基因为其主要致病基因,本文就ARVC的分子发病机制及遗传学研究进展加以综述。     

右室心肌病与致心律失常性右室发育不良

以发作性晕厥、右室起源的阵发室速、右室扩张或右心衰竭为特征的一组症候群,由于临床心脏电生理检查、超声心动图、心脏核素及心血管造影的广泛开展,发现增多并逐渐引起重视。本病在文献中有孤立性右室心肌病、右室扩张型心肌病、右室室壁瘤、Uhl畸形、羊皮纸心、右室发育不良(RVD)等名称。     

致心律失常性右心室心肌病致病基因研究进展

致心律失常性右心室心肌病（arrhythmogenic right ventricular cardiomyopathy,ARVC）是一种遗传性心肌病,好发于青少年,国外报道发病率为0．2‰-4．4‰,男性居多。病理特征为右心室心肌逐渐被脂肪和纤维脂肪组织替代,导致右心室的结构和功能异常,尚可累及室间隔及左心室游离壁。     

Genetics of arrhythmogenic right ventricular cardiomyopathy

Recent advances in molecular genetics of arrhythmogenic right ventricular cardiomyopathy (ARVD) are reviewed. In particular, the finding of mutations in the gene coding for cardiac ryanodine receptor (hRYR2), both in patients affected with ARVD2 and in patients affected with catecholaminergic ventricular arrhythmias or with familial ventricular tachyarrhythmia, is discussed. Novel data support the hypothesis that apoptosis may be a key step in molecular pathogenesis of ARVDs. A series of studies on drugs with apparent protective effect against apoptosis in myocardial cells might open new perspectives in the therapeutic approach.     

致心律失常性右心室心肌病的造影诊断

目的 评价心血管造影术(angiocardiography,ACG)对致心律失常性右心室心肌病(arrhythmogenicright ventricular cardiomyopathy,ARVC)的诊断价值和限度.方法 对11例临床确诊ARVC的患者行左心室、右心室造影,观察其形态及运动功能(特别是漏斗流出道、心尖小梁部以及下壁).结果 11例均行右心室造影,形态上表现为漏斗流出道扩张,其中7例为局限性扩张,3例为局限性扩张并囊袋状突出,1例为局限性扩张并叠盘状影;心尖小梁部8例叠盘状影,2例囊袋状突出,1例叠盘状影并囊袋状突出;下壁9例囊袋状突出,1例叠盘状影,1例囊袋状突出并叠盘状影.在运动功能异常方面,运动减弱最明显,分别见于漏斗流出道8/11,心尖小梁部10/11,下壁10/11;其次为无运动,分别发生在漏斗流出道2/11,心尖小梁部1/11,下壁1/11.1例还另行左心室造影,表现为:小梁粗大,心尖囊袋状突起,切迹,室间隔光滑.结论 右心室造影,征象明确,只要抓住发育不良三角形态及功能变化,就能作出正确诊断.ACG是ARVC诊断和鉴别诊断的重要依据.     

A case of arrhythmogenic right ventricular cardiomyopathy

The present report describes a 40-year-old woman with a long history of monomorphic ventricular tachycardia and left bundle branch block. She was treated with various antiarrhythmic agents; ventricular tachycardia ablation was attempted and an automatic implantable cardioverter defibrillator was implanted. Three-dimensional echocardiography clearly demonstrated features of arrhythmogenic right ventricular cardiomyopathy, including marked right ventricular (RV) dilation, decreased RV systolic function and thinning of the RV free wall. Other RV morphological abnormalities included excessive trabeculations and a localized apical aneurysm. Two years later, the patient developed symptoms of congestive heart failure. Despite maximal medical therapy, her clinical condition continued to deteriorate and she was referred for heart transplantation. Results of the pathology of her explanted heart confirmed this rare diagnosis. She presented with an unusual clinical course for arrhythmogenic right ventricular cardiomyopathy, which was complicated by progressive congestive heart failure and ultimately required heart transplantation. Three-dimensional echocardiography identified the structural abnormalities related to this rare disease.     

Echocardiographic assessment of arrhythmogenic right ventricular cardiomyopathy

OBJECTIVE—To evaluate new echocardiographic modes in the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC).
DESIGN—Prospective observational study.
SETTING—University Hospital.
SUBJECTS—15 patients with ARVC and a control group of 25 healthy subjects.
METHODS—Transthoracic echocardiography included cross sectional measurements of the right ventricular outflow tract, right ventricular inflow tract, and right ventricular body. Wall motion was analysed subjectively. M mode and pulsed tissue Doppler techniques were used for quantitative measurement of tricuspid annular motion at the lateral, septal, posterior, and anterior positions. Doppler assessment of tricuspid flow and systemic venous flow was also performed.
RESULTS—Assessed by M mode, the total amplitude of the tricuspid annular motion was significantly decreased in the lateral, septal, and posterior positions in the patients compared with the controls. The tissue Doppler velocity pattern showed decreased early diastolic peak annular (E_A) velocity and an accompanying decrease in early (E_A) to late diastolic (A_A) velocity ratio in all positions; the systolic annular velocity was significantly decreased only in the lateral position. Four patients had normal right ventricular dimensions and three were judged to have normal right ventricular wall motion. The patient group had also a significantly decreased tricuspid flow E:A ratio.
CONCLUSIONS—Tricuspid annular measurements are valuable, easy to obtain, and allow quantitative assessment of right ventricular function. ARVC patients showed an abnormal velocity pattern that may be an early but non-specific sign of the disease. Normal right ventricular dimensions do not exclude ARVC, and subjective detection of early changes in wall motion may be difficult.


Keywords: annular motion; diastolic dysfunction; right ventricular function; tissue Doppler     

Risk stratification in arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic cardiomyopathy characterized by myocyte death and fibrofatty replacement mostly in the right ventricle. It is a leading cause of sudden cardiac death (SCD) in individuals under the age of 35 years. The main goal in the treatment of the disease is the prevention of SCD. An implantable cardioverter-defibrillator (ICD) is the only proven life-saving therapeutic option able to improve survival in ARVC patients. This therapy is not free from side effects and it accounts for a relatively high rate of morbidity because of the occurrence of inappropriate ICD interventions and of complications, both at implantation and during the follow-up. In recent years, the approach to ICD implantation has been changing on the basis of new emerging data on risk stratification. The usefulness of ICD implantation for secondary prevention has been definitively proven; the most challenging question is how to treat patients with no history of previous cardiac arrest or hemodynamically unstable ventricular tachycardia (VT). The value of ECG abnormalities, syncope, VT, and right/left ventricular involvement as predictors of SCD has been assessed in different studies with the purpose of better defining risk stratification in ARVC. Nevertheless, in spite of the growing amount of data, primary prevention in ARVC patients remains mostly an individual decision.