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临床特征及预后因素

致心律失常性右室心肌病又称致心律失常性右室发育不良,是一种右室心肌细胞被纤维/脂肪细胞取代,进而导致室性心律失常的遗传性心肌病。致心律失常性右室心肌病主要的发病人群以青少年为主,以年轻运动员最为多见。近些年随着医学水平的进步,对致心律失常性右室心肌病的临床特征和预后因素等方面的认识越来越深入。现就致心律失常性右室心肌病的临床特征及其预后因素进行综述,为致心律失常性右室心肌病的临床治疗提供帮助。     

致心律失常性右室心肌病诊断进展

摘要：致心律失常性右室心肌病,又称致心律失常性右室发育不良,是一种遗传性心肌病,其特征为右心室心肌进行性被纤维脂肪组织所替代,临床常表现为右心室扩大、心律失常和猝死。致心律失常性右室心肌病的具体发病机制不十分明确,在此病的临床诊断方面仍值得进一步探讨。     

致心律失常性右室发育不良/心肌病:从分子遗传学到临床

致心律失常性右室发育不良/心肌病是一种近几年来受到广泛关注的遗传性心肌病,分子遗传学研究已发现的相对明确的致病基因有8个,基因筛查和功能研究有了新的进展。此病的诊断比较困难,尤其是早期诊断,现多采用国际上常用的诊断标准,诊断的灵敏度有待提高。治疗的主要目的是降低心律失常发生率,防止猝死,包括生活方式改变、药物、射频消融和埋藏式心脏复律除颤器。     

致心律失常性右室心肌病的诊断和治疗

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（ＡＲＶＤ）,是一种主要累及右心室,表现为右室游离壁心肌的部分或全部为脂肪组织所替代,其特征性的临床表现为起源于右室的室性心律失常或右心功能衰竭。１病因及病理致心律失常性右室心肌病,是由...     

致心律失常性右室心肌病的诊断与治疗现状

致心律失常性右室心肌病(ARVC)，旧称致心律失常性右室发育不良(ARVD)。Frank Fontaine等1978年首次报告。广义的致心律失常性右室心肌病，包含一大类临床表现为右室起源的室性心动过速、组织结构相似但临床表现不尽相同的疾病。如ARVD／C，Naxos病，Uhl’s anomaly、Venetian心肌病     

右室流出道起源的特发性室性心律失常的心电图分析

右室流出道是特发性室性心律失常易起源位置,右室流出道起源的室性期前收缩占所有室性期前收缩的80%以上。起源于该处的特发性室性心律失常经射频导管消融治疗的成功率在75%~100%,而且并发症风险低。右室流出道解剖上毗邻左室流出道,尤其是主动脉窦,又是致心律失常性右室心肌病心脏发育不良三角的一部分,其自身又分为前间隔、后间隔和游离壁,术前对此区体表心电图的鉴别诊断尤为重要。     

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（...     

遗传性心肌疾病的诊断及治疗

<正>遗传性心肌疾病是一组原发性的、以累及心肌结构和功能为主要病理生理基础的心脏疾病,通常由一种或多种编码心肌细胞、组织的基因发生变异引起,有较强的遗传倾向。遗传性心肌疾病主要包括肥厚型心肌病(HCM)、致心律失常性右室心肌病/发育不良(ARVC/D)、左室心肌致密化不全(LVNC)、遗传性心肌淀粉样变等,以前二者最常见。1致心律失常性右室心肌病致心律失常性右室心肌病(ARVC)是一种原因不明     

致心律失常性右室心肌病1例报告并文献复习

目的探讨致心律失常性右室心肌病的临床特点、诊断、危险分层及易漏诊原因。方法本文采用回顾本院1例致心律失常性右室心肌病的临床资料,并结合相关文献进行讨论。结果致心律失常性右室心肌病的临床特点趋向于非特异性,诊断常需结合临床症状体征、心电图及影像学检查等多种检查手段才能确诊。结论对致心律失常性右室心肌病患者心源性猝死的危险度进行分层指导治疗意义重大。     

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: An update

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic cardiomyopathy characterized by ventricular arrhythmias and structural abnormalities of the right ventricle (RV). The diagnosis is based on the International Task Force criteria. Cardiologists may not be aware of these diagnostic criteria for ARVC/D and may place too much importance on the results of MRI imaging of the right ventricle. Patients with ARVC/D usually have an abnormal 12-lead electrocardiogram, abnormal echocardiogram, and ventricular arrhythmias with a left bundle branch block morphology. If noninvasive testing suggests ARVC/D, invasive testing with an RV angiogram, RV biopsy, and electrophysiologic study is recommended. Once a diagnosis of ARVC/D is established, the main treatment decision involves whether to implant an implantable cardioverter-defibrillator. We also recommend treatment with β blockers. Patients with ARVC/D are encouraged to avoid competitive athletics. Recent advances in the understanding of the genetic basis of ARVC/D have revealed that ARVC/D is a disease of desmosomal dysfunction.     

Epsilon Waves as an Extreme Form of Depolarization Delay: Focusing on the Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Revision of the Task Force diagnostic criteria (TFC) for arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), in 2010, has increased the sensitivity for the diagnosis of early and familial forms of the disease. Epsilon wave (EW) is a major diagnostic criterion in the context of ARVC/D, however, it remains unquantifiable and therefore, may leave room for substantial subjective interpretation, thus, explaining the existing high inter-observer variability in the assessment of EW. EW, when present, coexists with other disease characteristics, which are sufficient for ARVC/D diagnosis, making EW generally not required for ARVC/D diagnosis. Nevertheless, EW remains an important part of the electrocardiographic phenotype of ARVC/D that may be useful in planning diagnostic work-up, which needs to be recognized.     

Diagnostic value of endomyocardial biopsy guided by electroanatomic voltage mapping in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Introduction: To improve the endomyocardial biopsy (EMB) diagnostic sensitivity for arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), we hypothesized a biopsy sampling focused on selected right ventricle (RV) low‐voltage areas identified by electroanatomic voltage mapping. Methods and Results: The study population (22 patients, 10 men; mean age 34 ± 10 years) included 11 patients with overt ARVC/D (group A) and 11 patients with suspected ARVC/D (group B), according to both arrhythmic profile and standardized noninvasive diagnostic criteria. In all 22 patients, an RV bipolar voltage mapping was performed with CARTO? system sampling multiple endocardial sites (262 ± 61), during sinus rhythm, with a 0.5–1.5 mV color range setting of voltage display. All 11 (100%) group A patients and 8 of the 11 (73%) group B patients (P = nonsignificant [NS]) presented RV low‐voltage areas (<0.5 mV). In 8 group A patients and in all 8 group B patients with a pathological RV voltage map, an EMB focused on the low‐voltage areas was performed. In 6 (75%) group A patients and in 7 (87%) group B patients (P = NS), voltage mapping‐guided EMB was diagnostic for ARVC/D. In the remaining 3 patients, only nonspecific histological findings were observed. Conclusions: The results of our study (1) confirm the high diagnostic sensitivity of RV voltage mapping in patients with overt ARVC/D, (2) document a high prevalence of RV low‐voltage areas even in patients with suspected ARVC/D, and (3) demonstrate that in patients with clinical evidence or suspicion for ARVC/D, presenting RV low‐voltage areas, EMB guided by voltage mapping may provide ARVC/D diagnosis confirmation.     

Right ventricular scar‐related ventricular tachycardia in nonischemic cardiomyopathy: Electrophysiological characteristics,mapping, and ablation of underlying heart disease

1 Background

Right ventricular (RV)‐scar related ventricular tachycardia (VT) is often due to arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) or cardiac sarcoidosis (CS), but some patients whose clinical course has not been described do not fulfill diagnostic criteria for these diseases. We sought to characterize the electrophysiologic substrate and catheter ablation outcomes of such patients, termed RV cardiomyopathy of unknown source (RCUS).

2 Methods and results

Data of 100 consecutive patients who presented with RV cardiomyopathy and/or RV‐related VT for ablation were reviewed (51 ARVC/D, 22 CS; 27 RCUS). Compared to ARVC/D, RCUS patients were older (P = 0.001), less commonly had RV dilatation (P = 0.001) or dysfunction (P = 0.01) and fragmented QRS, parietal block, and T‐wave inversion. Compared to CS, R‐CUS patients had less severe LV dysfunction. Extent and distribution of endocardial/epicardial scar and inducible VTs in RCUS patients were comparable with ARVC/D and CS patients. At a median follow‐up of 23 months, RCUS patients had more favorable VT‐free survival (RCUS 71%, ARVC/D 60%, CS 41%, P = 0.03) and survival free of death or cardiac transplant (RCUS 92%, ARVC/D 92%, CS 62%, P = 0.01). No RCUS patients developed new criteria for ARVC/D or CS in follow‐up.

3 Conclusions

Up to one‐third of patients with RV scar‐related VT are not classifiable as ARVC/D or CS. These patients had a somewhat better prognosis than ARVC/D or sarcoid and did not develop evidence of these diseases during the initial 2 years of follow‐up. The extent to which this population comprises mild ARVC/D, CS, or other diseases is not clear.     

Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies.

AIMS: The ultrastructural features of the myocardium in arrhythmogenic right ventricular cardiomyopathy (ARVC) have not been systematically investigated so far. The recent discovery of gene mutations encoding intercalated disc proteins prompted us to perform a transmission electron microscopy study on endomyocardial biopsies. METHODS AND RESULTS: Twenty-one ARVC probands who fulfilled the international Task Force diagnostic criteria underwent right ventricular endomyocardial biopsy and screening of desmosome (D) protein encoding genes. Myocyte intercalated discs were analysed by transmission electron microscope and the data were compared with those of 10 controls and 10 patients with idiopathic dilated cardiomyopathy. Extensive fibro-fatty replacement with a residual myocardium of 59+/-23% was found in ARVC biopsy samples. Pathogenic D gene mutations were identified in 10 (48%): desmoglein-2 in four, desmoplakin in three and plakophilin-2 in three. Mean D length and D percent length of intercalated disc were significantly higher, D number was significantly lower and D gap was widened in ARVC. Moreover, abnormally located D in 75%, abnormal small junctions in 52%, and pale internal plaques in 32% of ARVC patients were found in the presence of a normal intercalated disc convolution index. CONCLUSION: The ultrastructural evidence of intercalated discs remodelling in ARVC, together with the positive screening of D protein encoding genes in half of probands, are in keeping with an intercellular junction cardiomyopathy.     

Ventricular tachycardia mapping and ablation in arrhythmogenic right ventricular cardiomyopathy/dysplasia:Lessons Learned

Arrhythmogenic right ventricular cardiomyopathy/dysplasia(ARVC/D) is primarily believed to be an inherited cardiomyopathy that subsequently results in significant myocardial fibrosis. The arrhythmogenic consequences that result from the development of fibrosis are similar to other nonischemic cardiomyopathies, but the unique endocardial-epicardial disease process of ARVC/D requires a specialized approach for arrhythmia treatment in the electrophysiology laboratory. Although the association between ARVC/D and development of ventricular arrhythmias has become increasingly clear over the last 2 decades, our understanding of the arrhythmia mechanisms, underlying electrophysiologic substrate, and treatment strategies were significantly limited. Prospective studies performed in the electrophysiology laboratory allowed detailed characterization of the electrophysiologic and electroanatomic substrate underlying ventricular tachycardia in patients with ARVC/D. Thishas allowed clinician scientists to better characterize the arrhythmia mechanism and develop the necessary strategies to perform successful catheter ablation. Early in this experience, catheter ablation was considered a limited and largely unsuccessful treatment for patients experiencing painful and recurrent defibrillator therapy. Through our increased understanding of the disease process, catheter ablation has evolved to become an effective and preferred therapy for a majority of these patients. Our understanding of the disease and necessary approaches to provide successful treatment continues to evolve as the clinical experience grows. This article will review these important insights from the electrophysiology laboratory and how application of this knowledge has facilitated the development of a methodical approach to successfully perform ventricular tachycardia ablation in patients with ARVC/D.     

Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria

OBJECTIVES: We sought to ascertain the prevalence and mode of expression of familial disease in a consecutive series of patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). BACKGROUND: Autosomal-dominant inheritance is recognized in ARVC. The prevalence and mode of expression of familial disease in consecutive, unselected families is uncertain. METHODS: First- and second-degree relatives of 67 ARVC index patients underwent cardiac evaluation with history and examination, 12-lead and signal-averaged electrocardiogram (ECG), two-dimensional and Doppler echocardiography, metabolic exercise testing and Holter monitoring. Diagnoses were made in accordance with published criteria. RESULTS: Of 298 relatives, 29 (10%; mean age 37.4 +/- 16.4 years) had ARVC. These were from 19 of the 67 families, representing familial involvement in 28%. Of these affected relatives, 72% were asymptomatic, 17% had ventricular tachycardia (sustained VT 10%, nonsustained VT 7%) and 21% had left ventricular involvement. A further 32 relatives (11%; 37.7 +/- 12.4 years) exhibited nondiagnostic ECG, echocardiographic or Holter abnormalities. Fifteen of these relatives were from families with only the proband affected, and inclusion of this subset of relatives would have resulted in familial ARVC in 48% of index cases. Four additional relatives (1% to 3%) fulfilled diagnostic criteria for dilated cardiomyopathy without any features of right ventricular disease. CONCLUSIONS: By using current diagnostic criteria, familial disease was present in 28% of index patients. A further 11% of their relatives had minor cardiac abnormalities, which, in the context of a disease whose mode of inheritance is autosomal dominant, are likely to represent early or mild disease expression. We advocate that the current ARVC diagnostic criteria are modified to reflect the broader spectrum of disease that is observed in family members.     

Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy accounting for life-threatening ventricular tachyarrhythmias and sudden death in young individuals and athletes. Over the past years, mutations in desmosomal genes have been identified as disease-causative. However, genetic heterogeneity and variable phenotypic expression alongside with diverse disease progression still render the evaluation of its prognostic implication difficult. ARVC was initially entered into the canon of cardiomyopathies of the World Health Organization in 1995, and international efforts have resulted in the 2010 modified diagnostic criteria for ARVC. Despite all additional insights into pathophysiology, clinical management, and modern risk stratification, under-/misdiagnosing of ARVC remains a problem and hampers reliable statements on the incidence, prevalence, and natural course of the disease. This review provides a comprehensive overview of the current literature on the pathogenesis, diagnosis, treatment, and prognosis of ARVC and sheds some light on potential new developments in these areas.     

Electrocardiographic (ECG) clues to differentiate idiopathic right ventricular outflow tract tachycardia (RVOTT) from arrhythmogenic right ventricular cardiomyopathy (ARVC)

Introduction

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a genetic cardiomyopathy that most commonly affects young adults. The most commonly observed reason of death in patients suffering from ARVC/D is sudden cardiac death (SCD). On the other hand, idiopathic right ventricular outflow tract tachycardia (RVOT VT) usually has a benign course. Both of the entities may have ventricular tachycardia (VT) with left bundle branch block (LBBB) pattern and inferior axis. We tried to propose new discriminating electrocardiographic indices for differentiation of foretold entities.

Material and method

This was a retrospective study. We reviewed records of patients admitted between 2003 and 2012 with the diagnosis of either ARVC/D or RVOT VT that presented with VT (LBBB morphology).

Result

A total of fifty nine patients (30 RVOT VT and 29 ARVC/D) were enrolled. In ARVC/D group, men were dominant while the reverse was true of RVOT VT. Palpitation was more common in the RVOT VT group (90% vs. 66.7%), but aborted SCD and sustained VT were more common in ARVC/D group. The new ECG criteria proposed by us mean QRS duration in V1–V3, QRS difference in right and left precordial leads, S wave upstroke duration, JT interval dispersion, QRS and JT interval of right to left precordial leads were all significantly longer in ARVC/D when compared to RVOT VT patients (p < 0.001).

Conclusion

The proposed ECG criteria can be used for non-invasive diagnosis of ARVC/D and incorporation in the future updates of ARVC/D task force criteria.