探讨超声心动图对致心律失常性右室心肌病的诊断价值

目的探究超声心动图对于致心律失常性右室心肌病的临床诊断价值。方法选取2013年1月~2014年6月到我院就诊的致心律失常性右室心肌病患者80例作为研究对象,研究超声心动图对于致心律失常性右室心肌病的临床诊断价值。结果右心房增大35例,右心室壁弥漫性变薄、运动出现减弱37例,右心室流出道出现增宽49例,右心室肌小梁出现紊乱45例,调节束回声出现增强28例,右心室增大65例,心室壁有瘤形成25例,右心室局限性变薄、运动减弱22例。结论对致心律失常性右室心肌病患者采取超声心动图进行临床诊断,具有很好的诊断价值,可以为患者的临床诊断提供准确有效的依据,此法在临床上值得大力的推广使用。     

致心律失常性右室心肌病和Brugada综合征

年来临床医师屡屡发现一些严重室性快速心律失常的病人,其平时记录的心电图有一些特征性的改变,这些改变可能与室性快速心律失常的发作有关,其中最受注意的是致心律失常性右室心肌病和Bmgada综合征的心电图特征。 致心律失常性右室心肌病 致心律失常性右心室心肌病(arrhythmogenicright ventricular dysplasia,arrhythmogenic right ventricu-lar cardiomyopathy,ARVC)指病变主要累及右心室的原发性心肌病。病变使右心室心肌部分或全部缺如,由纤维或脂肪组织所代替。临床表现以心脏增大、右心衰竭、反复发生室性快速心律失常而致晕厥甚至猝死为特征。本病于1978年由Fon     

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...     

9例致心律失常性右室心肌病超声心动图临床分析

目的探讨致心律失常性右室心肌病的临床及超声心动图特点。方法对1995年5月-2007年11月在我院住院的9例致心律失常性右室心肌病病人的临床资料进行分析。结果9例致心律失常性右室心肌病病人全部以室性心律失常发病。1例猝死，2例心力衰竭，5例晕厥。所有病人均做了心电图、二维超声心动图，部分病人做了动态心电图、右心室造影。二维超声心动图检查示所有病人均有右心室扩大，6例右室流出道扩张，1例左室扩大；6例右室壁运动弥漫性减弱，3例局限性减弱，右房内均见反流束，反流压差均较低。结论致心律失常性右室心肌痛病人的临床表现较为复杂多样，典型者常以反复发作性室性心动过速、晕厥、猝死为其首发症状；部分呈家族遗传倾向。     

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。     

右心室心尖部憩室引起室性心动过速一例

致心律失常性右室心肌病以心肌不同程度地被脂肪或纤维脂肪组织代替为特征，主要累及右室流出道、心尖部受后下壁的心肌，本报道1例致心律失常性右室心肌病由右心室心尖部小憩室引起室性心动过速（VT）的病例,并对诊治过程进行分析。     

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。     

致心律失常性右室心肌病心电图诊断进展

致心律失常性右室心肌病(ar-rhythmogenic right ventricular dys-plasia/cardiomyopathy-ARVD/C)是一种主要以右心室心肌组织不同程度地被纤维脂肪组织所取代的心肌疾病,其临床特征主要表现为室性早搏、室性心动过速、猝死。其是在1977年由FontaineG[1]首次报道的典型的右室明显增大合并严重室性心律失常的病例。     

致心律失常右室心肌病心源性猝死危险因素研究进展

<正>致心律失常右室心肌病(ARVC),又称致心律失常右室发育不良,是一种遗传性、进展性心肌病,以右心室心肌细胞被纤维及脂肪组织替代为组织病理学特征,以桥粒蛋白基因突变(DPGM)为分子遗传学特征,临床表现为室性早搏(VP)、非持续性室性心动过速(NSVT)、持续性室性心动过速(SVT)、心室扑动(VFL)和(或)心室颤动(VF)等室性心律失常引起的心悸、头晕、晕厥和     

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.     

致心律失常性右室心肌病的临床诊断特点

致心律失常性右室心肌病(ARVC)是遗传性心肌病的一种,以右心室心肌细胞被纤维、脂肪组织代替为主要病理特征.临床主要表现为反复发生心律失常、心衰和猝死,在年轻人及运动员猝死中具有重要地位.因此,有必要进一步加深对该疾病的病理、生理和临床特征的认识和进一步研究.该文就ARVC的临床特点、心电图表现、超声心动图特点和核磁共振成像特点作一综述.     

Arrhythmogenic right ventricular cardiomyopathy: three cases

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare disease characterized by replacement of myocardium with fibrofatty tissue. It mainly involves the right ventricle (RV) and causes abnormal RV performance. ARVC is the most common cause of sudden cardiac death in young Italian athletes because it induces malignant ventricular tachyarrhythmias. Clinical manifestations of ARVC may be different between Chinese and Western patients. In this paper, we share our experience of the clinical manifestations of ARVC and review previous reports of ARVC.     

Apoptotic cell death in arrhythmogenic right ventricular cardiomyopathy: a comparative study with idiopathic sustained ventricular tachycardia

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a specific heart muscle disease of unknown etiology characterized by fatty and fibrofatty replacement of the right ventricular myocardium. It often manifests life-threatened ventricular arrhythmias. Previous studies have hypothesized that myocyte apoptosis contributes to the myocyte cell loss and fatty change in ARVC and may be induced by recurrent ventricular tachycardia (VT). We examined whether these progressive pathological changes result from apoptotic cell death in both autopsied and biopsied right ventricular myocardium from 35 patients with ARVC by using in situ terminal deoxynucleotidyl transferase assay (TUNEL) and agarose gel electrophoresis. We also studied the biopsied myocardium from 30 patients with idiopathic sustained VT whose origin was the outflow tract of the right ventricle. TUNEL-positive cells indicating DNA fragments were observed in some cardiomyocytes and fibroblasts in ARVC, but the numbers of TUNEL-positive myocytes were very low in idiopathic VT. DNA laddering was confirmed in two autopsied cases in ARVC, but not in a non-cardiac case who died. These results suggest that at least some cardiomyocytes and fibroblasts are subjected to apoptosis in ARVC, leading to the loss of myocardium with characteristic pathological changes and subsequently progressive cardiomyopathy. Furthermore, the apoptotic process may not result from myocardial ischemia due to repetitive VT.     

刻不容缓:致心律失常性右室心肌病/发育不良的早期诊断与治疗

致心律失常性右室心肌病/发育不良是一种以纤维-脂肪组织进行性替代右室心肌细胞为特征的遗传性心肌疾病,是引起青少年心源性猝死的主要原因之一。欧洲心脏病协会颁布了最新的诊断标准,使它诊断的敏感性及特异性显著的提高。但心律失常性右室心肌病/发育不良的早期诊断与治疗对于心内科医生来说仍然是一个巨大的挑战。现综述近年来在新标准的基础上对早期诊断以及治疗心律失常性右室心肌病/发育不良的新进展。     

Novel mutation of plakophilin-2 associated with arrhythmogenic right ventricular cardiomyopathy.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease characterized by dilatation and akinesis of the right ventricle, and causes life-threatening ventricular arrhythmia. Mutations of plakophilin-2 (PKP2) have recently been identified as one causative abnormality in ARVC. A case of ARVC with a mutation of PKP2 is reported here. Direct sequencing of the patient's DNA revealed an insertion mutation in exon 8 of PKP2 (1728_1729insGATG). The mutation caused the frameshift and the premature termination of translation (R577DfsX5). This is the first case report of PKP2 mutation found in Japanese ARVC patients.     

Clinical profile and long-term follow-up of 37 families with arrhythmogenic right ventricular cardiomyopathy

OBJECTIVES

We sought to define the clinical picture and natural history of familial arrhythmogenic right ventricular cardiomyopathy (ARVC).

BACKGROUND

Arrhythmogenic right ventricular cardiomyopathy is a myocardial disease, often familial, clinically characterized by the impending risk of ventricular arrhythmias and sudden death.

METHODS

Thirty-seven ARVC families of northeast Italy were studied. Probands had a histologic diagnosis of ARVC, either at autopsy (19 families) or endomyocardial biopsy (18 families). Protocol of the investigation included basal electrocardiogram (ECG), 24-hour ECG, signal-averaged ECG, stress test and two-dimensional Doppler echocardiography. Invasive evaluation was performed when deemed necessary.

RESULTS

Of the 365 subjects, 151 (41%) were affected, 157 (43%) were unaffected, 17 (5%) were healthy carriers, and 40 (11%) were uncertain. Mean age at diagnosis was 31 ± 13 years. By echocardiography, 64% had mild, 30% had moderate, and 6% had severe form. Forty percent had ventricular arrhythmias, 49 were treated with antiarrhythmic drugs, and two were treated with implantable cardioverter defibrillators. Sport activity was restricted in all. Of the 28 families who underwent linkage analysis, 6 mapped to chromosome 14q23-q24, 4 to 1q42-q43, and 4 to 2q32.1-q32.3. No linkage with known loci was found in four families and 10 had uninformative results. During a follow-up of 8.5 ± 4.6 years, one patient died (0.08 patient/year mortality), and 15 developed an overt form of ARVC.

CONCLUSIONS

Arrhythmogenic right ventricular cardiomyopathy is a progressive disease appearing during adolescence and early adulthood. Systematic evaluation of family members leads to early identification of ARVC, characterized by a broad clinical spectrum with a favorable outcome. In the setting of positive family history, even minor ECG and echocardiographic abnormalities are diagnostic.     

Die arrhythmogene rechtsventrikuläre Kardiomyopathie

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary myocardial disorder that is characterized by localized or diffuse atrophy of predominantly right ventricular myocardium with subsequent replacement by fatty and fibrous tissue. Arrhythmias of right ventricular origin are the main clinical manifestation. Affected patients present with ventricular premature beats and nonsustained or sustained ventricular tachycardia demonstrating a left bundle branch block pattern. However, since ventricular tachycardia may also degenerate into ventricular fibrillation, sudden death may be the first manifestation of ARVC.In recent years, ARVC has been more and more recognized as an important and frequent cause of ventricular tachyarrhythmias and sudden cardiac death, particularly in young patients and athletes, with apparently normal hearts. Evidence of the disease is found in 30-50% of family members. ARVC is a genetically heterogeneous disease.The diagnosis is based on electrocardiographic abnormalities and the identification of regional or global right ventricular dysfunction and fibrolipomatosis. Although several potentially causative genes have been identified, currently, genetic testing is not part of the routine diagnostic work-up.An implantable cardioverter-defibrillator is indicated in selected high-risk patients with ARVC (i. e., patients with life-threatening ventricular tachycardia or survivors of sudden cardiac death). The clinical course of the disease is often characterized by progression. In individual patients heart transplantation may become necessary.     

Special features of right bundle branch block in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia

We searched for special features in patients with complete and incomplete right bundle branch block diagnosed as having arrhythmogenic right ventricular cardiomyopathy/dysplasia. Whether right bundle branch block is a frequent finding in arrhythmogenic right ventricular cardiomyopathy should be studied. The question is whether special features exist such as T-wave inversions, localized right precordial QRS prolongation and r'/s ratio<1. RESULTS: ARVC could be diagnosed according to ISFC/ESC criteria in 374 patients. CRBBB was found in 22 cases (6%) and iCRBBB was present in 47 cases (12.5%). In CRBBB T wave inversions ≥ V4 was found in 10 cases (n.s.) and r'/s ratio<1 was present in 12 cases (p<0.001). In iCRBBB T wave inversions ≥ V4 was found in 10 cases (n.s.) and ST segment elevation in right precordial leads was present in 19 cases (p<0.005). In all patients with ARVC localized right precordial QRS prolongation was found. Patients with CRBBB have a bad prognosis: 17 of 22 patients developed biventricular heart failure requiring heart transplantation and diuretic therapy. CONCLUSIONS: CRBBB and iCRBBB are infrequent findings in arrhythmogenic right ventricular cardiomyopathy. Complete right bundle branch block is characterized by r'/s ratio<1. There are no significant T wave inversions ≥ V4. Incomplete right bundle branch block is characterized by ST segment elevation in right precordial leads but not by T wave inversions ≥ V4.     

Arrhythmogenic right ventricular cardiomyopathy

Herz - Arrhythmogenic right ventricular cardiomyopathy (ARVC), an inherited heart muscle disease, is characterized by a&nbsp;progressive replacement of viable, in its classic form predominantly...