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.     

致心律失常性右室心肌病病变程度与临床特点的关系

[目的]分析致心律失常性右室心肌病(ARVC)患者的病变程度与临床特点之间的关系.[方法]回顾性分析61例已确诊的ARVC患者病历资料,通过心脏MRI检查结果,按照病变侵犯部位分为局部病变组、弥漫病变组及双室病变组,分析比较各组患者临床特点,包括年龄、性别、晕厥病史、黒蒙病史、心悸及胸闷症状、家族史、持续或非持续的LBBB型室性心动过速及24 h室性早搏发生总数大于1 000次.[结果]心脏MRI检查表现可反映ARVC患者的病变程度;ARVC患者的黑蒙症状与病变程度相关;持续性室性心动过速和晕厥与病变程度无相关性.[结论]ARVC患者各病变程度中均存在晕厥及持续性室性心动过速等高危险因素,应提高对ARVC早期局部病变患者的预防治疗意识,以避免心脏猝死的发生.     

Clinical and familial study of arrhythmogenic right ventricular cardiomyopathy

Objective　To explore the characteristics of arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods　Seven patients with arrhythmogenic right ventricular cardiomyopathy and 34 members of three families were studied. All patients and family members underwent history collection, clinical examination, electrocardiogram (ECG), two-dimensional echocardiography (2-DE) and a signal averaging electrocardiogram. Programmed ventricular stimulation was performed in five patients. Results　All patients and family members had normal morphologic characteristics and normal function of the left ventricular by 2-DE. Fourteen persons had abnormal findings indicating ARVC. Five had enlargement of the right ventricular with diffused hypocontractility, eight had thin and systolic bulging in the focal anterior wall with hypokinesia and one had bulging of the inferior wall. Twenty-five persons (seven patients and 18 family members) had abnormal findings in ECG. Positive ventricular late potential was recorded in 13 persons (six patients). Two to three monomorphic ventricular tachycardia (VT) with left bundle branch block (LBBB) configurations were induced in five patients. Ventricular fibrillation was induced in two patients during the electrophysiologic study (EPS). Five patients had very high pacing threshold and/or ineffective pacing in one or many regions of the right ventricle. Two members of one family died suddenly. One member was a dwarf with ARVC. Spontaneous VT with a left bundle branch block (LBBB) configuration was recorded in five patients, polymorphic VT with extremely short coupling interval in one, and premature ventricular complexes with LBBB configuration in 12 (six patients). Conclusion　Our familial study strongly suggests that ARVC may be a hereditary disease and it is helpful in the diagnosis and detection of ARVC. The most common manifestations were abnormal structure and function of the right ventricle and abnormal ECG of repolarization and ventricular arrhythmia which originates from the right ventricle.     

致心律失常型右心室心肌病伴发心律失常性心肌病1例

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a kind of inherited cardio-myopathy, which is characterized by fibro-fatty replacement of right ventricular myocardium, leading to ventricular arrhythmia. However, rapid atrial arrhythmias are also common, including atrial fibrillation, atrial flutter and atrial tachycardia. Long term rapid atrial arrhythmia can lead to further deterioration of cardiac function. This case is a 51-year-old male. He was admitted to Department of Cardiology, Peking University Third Hospital with palpitation and fatigue after exercise. Electrocardiogram showed incessant atrial tachycardia. Echocardiography revealed dilation of all his four chambers, especially the right ventricle, with the left ventricular ejection fraction of 40% and the right ventricular hypokinesis. Cardiac magnetic resonance imaging found that the right ventricle was significantly enlarged, and the right ventricular aneurysm had formed; the right ventricular ejection fraction was as low as 8%, and the left ventricular ejection fraction was 35%. The patients met the diagnostic criteria of ARVC, and both left and right ventricles were involved. His physical activities were restricted, and metoprolol, digoxin, spironolactone and ramipril were given. Rivaroxaban was also given because atrial tachycardia could cause left atrial thrombosis and embolism. His atrial tachycardia converted spontaneously to normal sinus rhythm after these treatments. Since the patient had severe right ventricular dysfunction, frequent premature ventricular beats and non-sustained ventricular tachycardia on Holter monitoring, indicating a high risk of sudden death, implantable cardioverter defibrillator (ICD) was implanted. After discharge from hospital, physical activity restriction and the above medicines were continued. As rapid atrial arrhythmia could lead to inappropriate ICD shocks, amiodarone was added to prevent the recurrence of atrial tachycardia, and also control ventricular arrhythmia. After 6 months, echocardiography was repeated and showed that the left ventricle diameter was reduced significantly, and the left ventricular ejection fraction increased to 60%, while the size of right ventricle and right atrium decreased slightly. According to the clinical manifestations and outcomes, he was diagnosed with ARVC associated with arrhythmia induced cardiomyopathy. According to the results of his cardiac magnetic resonance imaging, the patient had left ventricular involvement caused by ARVC, and the persistent atrial tachycardia led to left ventricular systolic dysfunction.     

致心律失常型右心室心肌病伴发心律失常性心肌病1例

致心律失常型右心室心肌病(arrhythmogenic right ventricular cardiomyopathy,ARVC)是一种遗传性心肌病,以右心室心肌被纤维和脂肪组织替代为病理特征,约50％的患者双心室受累[1].西方人群该病患病率约为1/5000 ～1/1000,临床比较少见.在该病发展的不同阶段,先后出现心律失常、右心室结构及功能异常以及全心衰竭等临床表现,是35岁以下人群心脏性猝死(sudden cardiac death,SCD)的重要原因之一[2].该病的心律失常以室性心律失常为特征,但房性心律失常同样很多见,长时间的快速性房性心律失常可以导致心功能进一步恶化.本文报告1例北京大学第三医院收治的ARVC伴发房性心动过速,并导致心律失常性心肌病的病例.     

致心律失常性右室心肌病的MRI诊断价值

目的 探讨心脏MRI检查在致心律失常性右室心肌病(arrhythmogenic right ventricular cardiomyopathy, ARVC)诊断中的应用价值.方法 收集2005年1月至2008年5月在我院就诊的9例ARVC患者.所有患者行MRI检查,使用美国GE SIGNA 1.5T超导磁共振成像仪及8通道心脏线圈,行MR多序列、多方位、多功能成像技术检查.采用"白血技术"作四腔心,心脏短轴及左右室长轴位电影磁共振成像(cine MRI).采用"黑血技术"即双反转恢复快速自旋回波 (Doub1e-IRFSE)和三反转恢复快速自旋回波 (Triple-IRFSE)序列行短轴及右室长轴扫描.结果 本研究9例患者右室壁均有不同程度变薄,右室腔扩大8例.1例见室间隔略厚,左室腔扩大2例.其中3例在DIRFSE序列右室心肌出现灶状高信号,而在TIRFSE序列中,出现不规则岛状或连续中断影像.部位包括右室心尖部6例、膈面4例、前壁4例、漏斗部4例,其中1例累及乳头肌.右室流出道扩张2例,局部反向搏动、室壁瘤2例.结论 心脏MRI检查能反映出结构及功能的改变,清晰地显示患者病变的性质、程度及范围,是目前诊断ARVC的一项最具特异性和敏感性的无创性检查方法,对于临床上怀疑该病的患者应常规行该项检查.     

电解剖标测系统引导经导管消融治疗ARVC

目的探讨电解剖标测（CARTO）系统引导经盐水灌注导管消融治疗致心律失常右室心肌病（ARVC）的室性心动过速方法，并观察其疗效。方法3例患者均通过CARTO系统进行电解剖标测，分别进行激动标测和电压标测，结合标测碎裂电位和拖带标测等方法确定并消融室速。结果共诱发出4种形态的室速，其心电图形态不同，但均为左束支阻滞形室速。在CARTO系统标测指导下对室速进行消融成功。随访3～12个月，未发生室速。术中无并发症发生。结论ARVC所致的室速可在CARTO系统标测下行射频消融，且安全有效。     

A case of Lamin C gene-mutation with preserved systolic function and ventricular dysrrhythmia

Lamin A/C gene-related cardiomyopathy is associated with progressive heart failure and malignant arrhythmias. Current guidelines advise the use of implantable defibrillators to prevent arrhythmogenic sudden cardiac death only in situations where there is evidence of severe left ventricular dysfunction. We describe a case of a woman with genetically confirmed Lamin C deficiency with preserved left ventricular function in whom an implantable defibrillator was inserted and within a month of implantation was used to terminate symptomatic ventricular tachycardia.     

Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy

Background Arrhythmogenic right ventricular cardiomyopathy （ARVC） is one of the leading causes of sudden cardiac death. Recent studies have shown that ARVC, which is an inheritable genetic change, results from mutations in genes encoding desmosomal proteins. Plakophilin-2 is an important component of the desmosome. Because the full range of genetic variations related to ARVC is unknown and no related studies of the Chinese population have been reported, we aimed to investigate the genetic variation of plakophilin-2 in ARVC patients from the Southern Region of China.
Methods Genomic DNA was isolated from peripheral blood samples of all 34 ARVC patients, who were screened through a clinical evaluation. They were used to detect variations in the sequences of the plakophilin-2 genes by polymerase chain reaction amplification in combination with direct sequencing.
Results In exon-1 of the plakophilin-2 gene, a deletion mutation （c.145_148 del GACA） was found in one family pedigree. The mutation was also found in exon-2, 4, and 11 of the plakophilin-2 gene. The QT interval dispersion of the ECG was considerably longer in the mutation group than in the non-mutation group of ARVC patients, and this result was statistically significant （P 〈0.05）.
Conclusion We discovered a plakophilin-2 mutation that prolongs the QT interval dispersion in the southern Chinese ARVC population.     

Causes of sudden cardiac death in young Australians

OBJECTIVES: To determine the causes of sudden cardiac death in people aged 35 years or younger. DESIGN AND SETTING: A review of all autopsies performed between 1 January 1994 and 31 December 2002 at a major Sydney forensic medicine department serving an area with over 2 million people. MAIN OUTCOME MEASURES: Incidence of various types of cardiac disease causing sudden death in those aged 相似文献   

1例酷似急性心肌炎的致心律失常性右室心肌病/发育不良

致心律失常性右室心肌病/发育不良是一种右室心肌被纤维脂肪组织进行性替代的心脏病。本病例为青年女性,因反复心悸7 d,加重伴腹泻1 d入院。入院时辅助检查提示:室性心律失常伴心肌损伤指标增高,考虑为急性重症心肌炎。随后的诊治发现,心电图提示:窦性心律,可见Epsilon波,心脏影像学检查提示右心增大,右心室内低密度脂肪影,而左心形态功能正常。出院时诊断为致心律失常性右室心肌病。该病例提示对右心增大、心肌受损合并室速的病人应进行多病因的思考。     

致心律失常性右心室心肌病临床分析

OBJECTIVE: To investigate the clinical features of arrthythmogenic right ventricular cardiomyopathy (ARVC), and to evaluate the diagnosis of ARVC. METHODS: Twenty-three cases of ARVC underwent ECG, chest x-ray, Holter, transesophageal atrial pacing (TEAP) and intracardiac electrophysiological examination. RESULTS: A syncope attack occurred; the percentage of frequent ventricular premature beats was 95.7%, salvos of the right ventricular originated ventricular tachycardia (VT) was 87%, and the right bundle branch block (RBBB) demonstrated by ECG was 87%; UCG showed that the enlarged right ventricular diametric was (50.1 +/- 8.83) mm, and the right atrium diametric was (48 +/- 8.79) mm; the ratio of right ventricular diametric to left ventricular diametric in the end-diastolic period was 1.09. The right ventricular function [ejection fraction: (0.325 +/- 0.0902)] decreased, which was confirmed by echocardiogram. CONCLUSION: The diagnosis of ARVE can be established on the basis of the repeated syncope attack; RBBB, frequent ventricular premature beats, VT of LBBB patterms, an enlarged right heart and decreased right ventricular function can be found, the ratio of right ventricular dimaetric to left ventricular diametric increases in the end-diastolic period.     

致心律失常性右心室心肌病临床分析

目的 :分析致心律失常性右心室心肌病的临床特点。方法 :将 2 3例致心律失常性右心室心肌病患者常规行超声心动图、心电图、胸片、动态心电图、心房调搏及心内电生理检查。结果 :本组 2 3例患者多有晕厥发作 ,频发室性早搏 (95 7% ) ,右心室源性短阵室速 (87% ) ,心电图多为右束支传导阻滞 (87% ) ,超声心动图右心室内径为 (5 0 1± 8 83)mm ,右心房内径为 (48± 8 79)mm ,右心室与左心室舒张末期内径之比为 1 0 9,右心功能减退 ,射血分数 (EF)为(0 32 5± 0 0 90 2 )。结论 :致心律失常性右心室心肌病 ,多有发作性晕厥 ,右束支传导阻滞 ,频发室早及左束支传导阻滞型室速 ,右心室、右心房增大 ,右心室功能减退 ,右心室与左心室舒张末期内径之比增大     

29例云南不明原因聚集性猝死的尸检病理学研究

目的：分析云南不明原因聚集性猝死的病理特点,为其病因探索和实施干预提供依据。方法：收集云南省进行这类猝死监测以来临床与病理资料较完整的尸检材料29例,占同期死亡病例的10．2％。年龄8至69岁（平均32岁）,男16例、女13例。核查心脏标本,观察了主要脏器的组织病理改变,对其中5例还做了心脏传导系统检查。心肌炎的病理诊断参照Dallas标准和世界心脏联合会的共识,标准克山病的病理诊断依据国家相关卫生行业标准。结果：心脏主要病理改变有：淋巴细胞性心肌炎11例、中性粒细胞性心肌炎3例、致心律失常性右室心肌病4例、左室肥厚合并流出道异常肌束2例、缺血性心脏病2例、过敏性支气管炎和慢性支气管炎合并肺气肿2例、主要脏器未找到明显致死性病理形态改变5例。29例中均未见克山病和扩张型心肌病的病理形态改变。心肌炎均为局灶性,5例心脏传导组织检查见2例有希氏束或左束支起始段急性出血,1例炎症波及房室结。4对家庭聚集性病例的病理改变不同,4例首发猝死中3例为心肌炎、1例慢性感染,续发猝死中3例与急性心肌缺血有关,1例为致心律失常性右室心肌病。多数病例伴肺水肿,少数伴呼吸道和肺部感染。部分出现淤血性或缺血性肝细胞坏死。结论：云南不明原因聚集性猝死的基本病理改变不同,多数为心肌炎症、心脏发育异常和其他致死性心肺疾患,未见克山病的病理学证据,致心律失常性右室心肌病等基础性心脏病应引起重视,猝死的聚集性可能是多种因素的综合表现。     

肥厚性心肌病心源性猝死的危险因素分析

目的:分析肥厚性心肌病心源性猝死的危险因素。方法:收集发生心源性猝死的肥厚性心肌病患者32例,所有患者均经临床表现、实验室检查、心电图及超声心动图检查确诊,回顾性分析患者的临床资料。结果:单因素分析显示心脏骤停(心室颤动),自发性持续性室速,猝死家族史(≤40岁的一级亲属),晕厥(≥2次/年),左室厚度≥30mm,负荷或运动后收缩压反应异常(无变化或降低>10mmHg或升高<25mmHg),非持续性室速,左室流出道梗阻(压力差>30mmHg)等因素为肥厚性心肌病患者发生心源性猝死的危险因素(P<0.01)。多因素logistic分析显示心脏骤停(心室颤动),自发性持续性室速,猝死家族史及晕厥≥2次/年是肥厚性心肌病心源性猝死重要的危险因素。结论:多种危险因素与肥厚性心肌病心源性猝死密切相关,临床工作中应该积极应对。     

早期复极综合征与特发性室颤及猝死

早期复极综合征(ERS)是一种以心电图上表现为J波增大或J点抬高,胸前导联V3-V6弓背向下的ST段抬高和高大而直立的T波的特征性的心电改变,通常认为是一种正常心电图的良性变异,但近来报道早期复极综合征在一些情况下可诱发特发性心室颤动,导致猝死,机制尚未明确.对于有胸痛、晕厥等症状或(和)猝死家族史等的高危ERS患者,...     

Linkage analysis of five Chinese families with arrhythmogenic right ventricular cardiomyopathy using microsatellite genetic markers

Objective To explore the linkage relationship between specific genetic markers and arrhythmogenic right ventricular cardiomyopathy (ARVC) in Chinese pedigrees. Methods The microsatellite genetic markers D2S152, D14S252, and D10S1664 were studied for their linkages to ARVC in five Chinese ARVC pedigrees and a normal population of 121 Chinese individuals. Genomic DNA of the pedigrees and normal population was amplified using PCR techniques. Denaturing polyacrylamide sequencing gel (4%) electrophoresis was used to detect microsatellite repeat polymorphisms. Gels were silver-stained. A classical linkage analysis program was used assuming models of autosomal dominance and recession. Results The logarithm of the odds (LOD) scores of D2S152 with ARVC in LW, WD, DS, LC and TY pedigrees were 2.174, －0.589, －∞, － （indicating that linkage is not supported in this mode）, and －∞ respectively in autosomal dominant model （recombination fraction=0.000 respectively）and were －∞, －∞, －∞, －∞, and 0.182 respectively in the autosomal recessive model. The LOD scores of D14S252 with ARVC in LW, WD, DS, LC and TY pedigrees were －, －, －∞, －, and 0 respectively in autosomal dominant model, and were －∞, －0.812, －∞, －∞, and 0.087 respectively in autosomal recessive model. The LOD scores of D2S152 with ARVC in LW, WD, DS, LC and TY pedigrees were －, －0.539, －, and 0.602 respectively in autosomal dominant model and were －, －∞, －∞, －∞, and －∞ respectively in autosomal recessive model. Conclusions The LOD score for D2S152 in the LW pedigree was 2.174, indicating that the chance of linkage is about 150∶1. This suggests that there is a possible ARVC-related gene near this marker. There were no clear linkage relationships between ARVC and D10S1664 and D14S252 in this family, and no linkages between ARVC and any of the three genetic markers in the other four families. These results also suggest that there is genetic heterogeneity in LW and in the other pedigrees.     

Study of sudden cardiac deaths in young athletes

Sudden cardiac deaths in athletes are usually due to underlying cardiovascular disease. The final pathway is usually ventricular fibrillation following hypertrophic cardiomyopathy and coronary artery anomalies in young persons below the age of 30 years. Sudden cardiac death in young is rare but remains as a source of concern. A postmortem study was conducted to ascertain the cardiac causes of sudden death in persons below the age group 30 years following exercise in games or otherwise. Out of 15 cases in autopsy finding, hypertrophic cardiomyopathy (n=7) was the commonest cause followed by coronary artery anomalies (n=4). Sudden unexpected death is a source of concern and careful screening of history and physical examination for potential athletes should identify majority of people at risk.     

Primary prevention of sudden cardiac death by implantable cardioverter-defibrillator therapy in Chinese patients with heart failure: a single-center experience

Background An implantable cardioverter-defibrillator （ICD） has been suggested for heart failure patients for primary prevention of sudden cardiac death. However, few data have been reported on the application of ICD as primary prevention of sudden cardiac death in China. We evaluated the value of primary prevention ICD therapy in Chinese patients with heart failure.Methods Thirty-four patients at an average age of （60.2±13.7） years seen in Peking Union Medical College Hospital were treated with ICD implantation for primary prevention of sudden cardiac death from November 2005 to July 2009. Single-chamber ICDs were implanted in 16 （47.0%） cases, and dual-chamber or cardiac resynchronization therapy defibrillators in 18 （53.0%） cases. The patients had an average left ventricular ejection fraction of （26.9±5.5）% （11% to 35%）, of which 18 （53.0%） patients had ischemic cardiomyopathy and 16 （47.0%） patients had non-ischemic cardiomyopathy. All patients were followed up at three months after the implantation and every six months thereafter or when prompted by an ICD event.Results There were five （14.7%） deaths, including two of heart failure and three with a non-cardiac course, during an average follow-up of （15.0±11.9） months. Forty-one ICD therapy events were recorded, including 19 （46.3%） appropriate ICD therapies in six patients and 22 （53.7%） inappropriate ICD therapies in four patients with single chamber leads. Inappropriate ICD therapies were mainly due to supraventricular tachyarrhythmias, especially atrial fibrillation. Patients with ischemic cardiomyopathy and non-ischemic cardiomyopathy did not differ in the incidence of either appropriate or inappropriate therapy.Conclusions ICD for primary prevention of sudden cardiac death in China prevents patients from arrhythmia death. Relatively high incidence of inappropriate therapies highlights the importance of an atrial lead.     

围产期心肌病预后因素探讨

目的评价影响围产期心肌病预后的临床因素。方法回顾分析该科37例围产期心肌病病例，总结其临床症状、体征、心电图、超声心动图特征，评价其与预后的关系。结果11例病人预后不良，7例死于心衰恶化，2例死于器官栓塞，1例死于严重肺部感染，1例死于心律失常。26例随访1年，5例发生心功能不全，无心源性猝死、恶性心律失常发生。结论围产期心肌病预后主要与心功能状况及并发症(器官栓塞、心律失常、感染)有关。