In der vorliegenden Arbeit wird uber arrhythmogene rechtsventrikulare Dysplasie (ARVD) bei einem eigenen Patienten und einschlagige Literatur diskutiert. Bei den aus dem rechten Ventrikel stammenden Rhythmusstorungen,...In der vorliegenden Arbeit wird uber arrhythmogene rechtsventrikulare Dysplasie (ARVD) bei einem eigenen Patienten und einschlagige Literatur diskutiert. Bei den aus dem rechten Ventrikel stammenden Rhythmusstorungen, besonders bei lebensbedrohender Arrhythmie sollte man ARVD denken. Bei Verdacht auf ARVD gewinnt die invasive diagnostische Technik zunehmend an Bedeutung. Heart-Single photon emmission computer tomograph (Herz-SPECT), MRT und Echokardiographie sollten bevorzugt angewandt werden.Behandlung mit Amiodaron ist geeignet fur therapierefraktare lebensbedrohende Arrhythmien bei ARVD und deren Verhutung.展开更多
Arrhythmogenic right ventricular cardiomyopathy(ARVC)is a progressive disease characterized by adipose and fibrous replacement of the myocardium.While elevated testosterone levels have been implicated in the pathologi...Arrhythmogenic right ventricular cardiomyopathy(ARVC)is a progressive disease characterized by adipose and fibrous replacement of the myocardium.While elevated testosterone levels have been implicated in the pathological process of ARVC,its exact contribution to cardiac fibrosis in ARVC remains unclear.In this study,we analyzed the potential contribution of gender-based differences on the distribution of the low-voltage area in an ARVC cohort undergoing an electrophysiological study,which was indicated by feature selection.Additionally,we established engineered cardiac spheroid models in vitro using patient-specific induced pluripotent stem cell(iPSC)-derived cardiomyocytes(iPSC-CMs)and iPSC-derived cardiac fibroblasts(icFBs).We elucidated the pathogenicity of abnormal splicing in the plakophilin-2(PKP2)gene caused by an intronic mutation.Additionally,pathogenic validation of the desmoglein-2(DSG2)point mutation further confirms the reliability of the models.Moreover,testosterone exacerbated the DNA damage in the mutated cardiomyocytes and further activated myofibroblasts in a chain reaction.In conclusion,we designed and constructed an in vitro three-dimensionally-engineered cardiac spheroid model of ARVC based on clinical findings and provided direct evidence of the fibrotic role of testosterone in ARVC.展开更多
BACKGROUND In this case report,we aimed to raise awareness regarding arrhythmogenic cardiomyopathy(ACM)with inflammatory“hot phase”episodes in pediatric patients,which is often misdiagnosed as myocarditis.This condi...BACKGROUND In this case report,we aimed to raise awareness regarding arrhythmogenic cardiomyopathy(ACM)with inflammatory“hot phase”episodes in pediatric patients,which is often misdiagnosed as myocarditis.This condition,caused by aseptic intracellular inflammation,can be misdiagnosed as acute coronary syndrome or myocardial viral infection,with the latter being particularly common in children.Here,we report two pediatric cases of ACM with“hot phase”episodes and discuss the molecular mechanisms leading to aseptic myocardial inflammation due to desmosome and cytoskeletal damage.CASE SUMMARY The first patient(aged 13 years)was hospitalized after experiencing a single episode of syncope,chest pain,and palpitation.Clinical examination revealed elevated troponin levels,complete right bundle branch block,right ventricular dilation,and normal coronary arteries.Cardiac magnetic resonance imaging(MRI)revealed extensive fibrotic changes in the right ventricle,which was consistent with ACM,and a pathogenic variant in DSG2 confirmed the diagnosis.The second patient(aged 4 years)presented with chest pain and elevated troponin levels.Electrocardiography revealed a left bundle branch block,while echocardiography showed reduced left ventricular contractility.Cardiac MRI demonstrated left ventricular dilation and subepicardial fibrosis.The phenotypic features,such as curly-wool hair,hyperkeratosis,and onychodystrophy,suggested a genetic nature of the disease.Two mutations identified in DSP confirmed the diagnosis of Carvajal syndrome with intermittent“hot phase”episodes.CONCLUSION ACM in children can present with nonspecific inflammatory symptoms,which may be misdiagnosed as myocarditis or coronary artery pathology.展开更多
Most cases of sudden cardiac death are attributed to sustained ventricular tachyarrhythmias(VTs), triggered by acute coronary occlusion. Autonomic dysfunction, an important arrhythmogenic mechanism in this setting, is...Most cases of sudden cardiac death are attributed to sustained ventricular tachyarrhythmias(VTs), triggered by acute coronary occlusion. Autonomic dysfunction, an important arrhythmogenic mechanism in this setting, is being actively investigated, aiming at the advent of preventive strategies. Recent experimental studies have shown vagal withdrawal after anterior myocardial infarction, coinciding with high incidence of VTs, followed by more gradual sympathetic activation coinciding with a second arrhythmia peak. This article summarizes recent knowledge on this intriguing topic, generating hypotheses that can be investigated in future experimental and clinical studies.展开更多
Arrhythmogenic ventricular cardiomyopathy(AVC) isgenerally referred to as arrhythmogenic right ventricu-lar(RV) cardiomyopathy/dysplasia and constitutesan inherited cardiomyopathy.Affected patients maysuccumb to sudde...Arrhythmogenic ventricular cardiomyopathy(AVC) isgenerally referred to as arrhythmogenic right ventricu-lar(RV) cardiomyopathy/dysplasia and constitutesan inherited cardiomyopathy.Affected patients maysuccumb to sudden cardiac death(SCD),ventriculartachyarrhythmias(VTA) and heart failure.Geneticstudies have identified causative mutations in genesencoding proteins of the intercalated disk that lead toreduced myocardial electro-mechanical stability.Theterm arrhythmogenic RV cardiomyopathy is somewhatmisleading as biventricular involvement or isolated leftventricular(LV) involvement may be present and thus abroader term such as AVC should be preferred.The di-agnosis is established on a point score basis accordingto the revised 2010 task force criteria utilizing imagingmodalities,demonstrating fibrous replacement throughbiopsy,electrocardiographic abnormalities,ventricu-lar arrhythmias and a positive family history includingidentification of genetic mutations.Although severarisk factors for SCD such as previous cardiac arrest,syncope,documented VTA,severe RV/LV dysfunctionand young age at manifestation have been identified,risk stratification still needs improvement,especially inasymptomatic family members.Particularly,the roleof genetic testing and environmental factors has to befurther elucidated.Therapeutic interventions include re-striction from physical exercise,beta-blockers,sotalol,amiodarone,implantable cardioverter-defibrillators andcatheter ablation.Life-long follow-up is warranted insymptomatic patients,but also asymptomatic carriersof pathogenic mutations.展开更多
Cardiomyopathies are defined as diseases of the myocardium with associated structural and functional abnormalities. Knowledge of these pathologies for a long period was not clear in clinical practice due to uncertaint...Cardiomyopathies are defined as diseases of the myocardium with associated structural and functional abnormalities. Knowledge of these pathologies for a long period was not clear in clinical practice due to uncertainties regarding definition,classification and clinical diagnosis. In recent decades,major advances have been made in the understanding of the molecular and genetic issues,pathophysiology,and clinical and radiological assessment of the diseases. Progress has been made also in management of several types of cardiomyopathy. Advances in the understanding of these diseases show that cardiomyopathies represent complex entities. Here,special attention is given to evolution of classification of cardiomyopathies,with the aim of assisting clinicians to look beyond schematic diagnostic labels in order to achieve more specific diagnosis. Knowledge of the genotype of cardiomyopathies has changed the pathophysiological understanding of their etiology and clinical course,and has become more important in clinical practice for diagnosis and prevention of cardiomyopathies. New approaches for clinical and prognostic assessment are provided based on contemporary molecular mechanisms of contribution in the pathogenesis of cardiomyopathies. The genotype-phe-notype complex approach for assessment improves the clinical evaluation and management strategies of these pathologies. The review covers also the important role of imaging methods,particularly echocardiography,and cardiac magnetic resonance imaging in the evaluation of different types of cardiomyopathies. In summary,this review provides complex presentation of current state of cardiomyopathies from genetics to management aspects for cardiovascular specialists.展开更多
Arrhythmogenic right ventricular cardiomyopathy(ARVC) is a genetic disease characterized by myocyte loss and fibro-fatty tissue replacement. Diagnosis of ARVC remains a clinical challenge mainly at its early stages an...Arrhythmogenic right ventricular cardiomyopathy(ARVC) is a genetic disease characterized by myocyte loss and fibro-fatty tissue replacement. Diagnosis of ARVC remains a clinical challenge mainly at its early stages and in patients with minimal echocardiographic right ventricular(RV) abnormalities. ARVC shares some common features with other cardiac diseases, such as RV outflow ventricular tachycardia, Brugada syndrome, and myocarditis, due to arrhythmic expressivity and biventricular involvement. The identification of ARVC can be often challenging, because of the heterogeneous clinical presentation, highly variable intra- and inter-family expressivity and incomplete penetrance. This genotypephenotype "plasticity" is largely unexplained. A familial history of ARVC is present in 30% to 50% of cases, and the disease is considered a genetic cardiomyopathy, usually inherited in an autosomal dominant pattern with variable penetrance and expressivity; in addition, autosomal recessive forms have been reported(Naxos disease and Carvajal syndrome). Diagnosis of ARVC relays on a scoring system, with major or minorcriteria on the Revised Task Force Criteria. Implantable cardioverter defibrillators(ICDs) are increasingly utilized in patients with ARVC who have survived sudden death(SD)(secondary prevention). However, there are few data available to help identifying ARVC patients in whom the prophylactic implantation of an ICD is truly warranted. Prevention of SD is the primary goal of management. Pharmacologic treatment of arrhythmias, catheter ablation of ventricular tachycardia, and ICD are the mainstay of treatment of ARVC.展开更多
Intense exercise may cause heart remodeling to compensate increases in blood pressure or volume by increasing muscle mass. Cardiac changes do not involve only the left ventricle, but all heart chambers. Physiological ...Intense exercise may cause heart remodeling to compensate increases in blood pressure or volume by increasing muscle mass. Cardiac changes do not involve only the left ventricle, but all heart chambers. Physiological cardiac modeling in athletes is associated with normal or enhanced cardiac function, but recent studies have documented decrements in left ventricular function during intense exercise and the release of cardiac markers of necrosis in athlete's blood of uncertain significance. Furthermore, cardiac remodeling may predispose athletes to heart disease and result in electrical remodeling, responsible for arrhythmias. Athlete's heart is a physiological condition and does not require a specific treatment. In some conditions, it is important to differentiate the physiological adaptations from pathological conditions, such as hypertrophic cardiomyopathy, arrhythmogenic dysplasia of the right ventricle, and non-compaction myocardium, for the greater risk of sudden cardiac death of these conditions. Moreover, some drugs and performance-enhancing drugs can cause structural alterations and arrhythmias, therefore, their use should be excluded.展开更多
Background Catheter ablation for ventricular tachycardia(VT) in patients with arrhythmogenic right ventricular cardiomyopathy(ARVC) has significantly evolved over the past decade. However, different ablation strategie...Background Catheter ablation for ventricular tachycardia(VT) in patients with arrhythmogenic right ventricular cardiomyopathy(ARVC) has significantly evolved over the past decade. However, different ablation strategies showed inconsistency in acute and long-term outcomes. Methods We searched the databases of Medline, Embase and Cochrane Library through October 17, 2019 for studies describing the clinical outcomes of VT ablation in ARVC. Data including VT recurrence, all-cause mortality, acute procedural efficacy and major procedural complications were extracted. A meta-analysis with trial sequential analysis was further performed in comparative studies of endo-epicardial versus endocardial-only ablation. Results A total of 24 studies with 717 participants were enrolled. The literatures of epicardial ablation were mainly published after 2010 with total ICD implantation of 73.7%, acute efficacy of 89.8%, major complication of 5.2%, follow-up of 28.9 months, VT freedom of 75.3%, all-cause mortality of 1.1% and heart transplantation of 0.6%. Meta-analysis of 10 comparative studies revealed that compared with endocardial-only approach, epicardial ablation significantly decreased VT recurrence(OR: 0.50;95% CI: 0.30–0.85;P = 0.010), but somehow increased major procedural complications(OR: 4.64;95% CI: 1.28–16.92;P = 0.02), with not evident improvement of acute efficacy(OR: 2.74;95% CI: 0.98–7.65;P = 0.051) or all-cause mortality(OR: 0.87;95% CI: 0.09–8.31;P = 0.90). Conclusion Catheter ablation for VT in ARVC is feasible and effective. Epicardial ablation is associated with better long-term VT freedom, but with more major complications and unremarkable survival or acute efficacy benefit.展开更多
There is increasing awareness among the cardiology community regarding ictal bradyarrhythmias as a cause of loss of consciousness. A high degree of suspicion is necessary when diagnosing ictal bradyarrhythmias, and de...There is increasing awareness among the cardiology community regarding ictal bradyarrhythmias as a cause of loss of consciousness. A high degree of suspicion is necessary when diagnosing ictal bradyarrhythmias, and delay in diagnosing this condition may lead to morbidity associated with falls and trauma. Ictal bradyarrhythmias have also been suggested to be associated with sudden unexplained death in epilepsy, although evidence related to this association is limited. There is no guidelinedirected therapy for symptomatic ictal bradyarrhythmias due to a lack of randomized, controlled trials. Cardiac pacemaker therapy is commonly used for these patients; however, currently, there is no universal agreement on the pacing indications for these patients. In this review, we focus on the pathophysiology and clinical presentation of ictal bradyarrhythmias and then discuss the pacing need based on the available literature data.展开更多
BACKGROUND Left-dominant arrhythmogenic cardiomyopathy(LDAC)is a relatively rare disease characterized by poor prognosis that exacerbates the incidence of sudden cardiac death and ventricular arrhythmias.Clinically,LD...BACKGROUND Left-dominant arrhythmogenic cardiomyopathy(LDAC)is a relatively rare disease characterized by poor prognosis that exacerbates the incidence of sudden cardiac death and ventricular arrhythmias.Clinically,LDAC is constantly overlooked or misdiagnosed as myocardial infarction,myocarditis,and dilated cardiomyopathy,owing to atypical and nonspecific clinical manifestations at an early stage.CASE SUMMARY A 57-year-old woman was diagnosed with sinus bradycardia and chronic bifascicular block during a health check.She occasionally experienced mild chest pain and paroxysmal palpitation during activity in the past 2 years.Comprehensive auxiliary examinations,including electrocardiogram,echocardiography,coronary computerized tomography angiography,and magnetic resonance imaging,revealed that she had LDAC instead of congenital ventricular diverticulum.The physicians prescribed standard oral therapy for heart failure and implantable cardioverter-defibrillator.Consequently,her left ventricular systolic function and symptoms remained stable at the 2-year follow-up after discharge.CONCLUSION Based on this case,clinicians need to be aware of LDAC in patients with localized left ventricular lesions and multiple electrocardiographic abnormalities.Multimodality cardiovascular imaging is effective in identification of multiple types of cardiomyopathy and cardiac inner structures.展开更多
ObjectiveTo seek potential pathogenic variants in sarcomere genes in arrhythmogenic cardiomyopathy(ACM)and describe the characteristics.Methods and Results We performed targeted sequencing of 14sarcomere genes in 118 ...ObjectiveTo seek potential pathogenic variants in sarcomere genes in arrhythmogenic cardiomyopathy(ACM)and describe the characteristics.Methods and Results We performed targeted sequencing of 14sarcomere genes in 118 cases with the clinical diagnosis of ARVC and Sanger sequencing of the specific variants in family members of the probands.展开更多
Background Arrhythmogenic right ventricular cardiomyopathy(ARVC)is an inherited primary cardiomyopathy characterized by myocardial degeneration with fibro-fatty replacement.Clinical and genetic features of ARVC were w...Background Arrhythmogenic right ventricular cardiomyopathy(ARVC)is an inherited primary cardiomyopathy characterized by myocardial degeneration with fibro-fatty replacement.Clinical and genetic features of ARVC were well identified in Caucasian cohorts,but seldom examined in Chinese cohort.Our aim is to examine the genetic factor,genotype-phenotype correlations,and inheritance patterns of ARVC in a Chinese cohort.展开更多
AIM:To evaluate the referrals with suspected arrhythmogenic right ventricular cardiomyopathy(ARVC)and compare cardiac MR(cMR)findings against clinical diagnosis.METHODS:A retrospective analysis of 114(age range16 to 8...AIM:To evaluate the referrals with suspected arrhythmogenic right ventricular cardiomyopathy(ARVC)and compare cardiac MR(cMR)findings against clinical diagnosis.METHODS:A retrospective analysis of 114(age range16 to 83,males 55%and females 45%)patients referred for cMR with a suspected diagnosis of ARVC between May 2006 and February 2010 was performed after obtaining institutional approval for service evaluation.Reasons for referral including clinical symptoms and family history of sudden death,electrocardiogram and echo abnormalities,cMR findings,final clinical diagnosis and information about clinical management were obtained.The results of cMR were classified as major,minor,non-specific or negative depending on both functional and tissue characterisation and the cMR results were compared against the final clinical diagnosis.RESULTS:The most common reasons for referral included arrhythmias(30%)and a family history of sudden death(20%).Of the total cohort of 114 patients:4 patients(4%)had major cMR findings for ARVC,13patients(11%)had minor cMR findings,2 patients had non-specific cMR findings relating to the right ventricle and 95 patients had a negative cMR.Of the 4 patients who had major cMR findings,3(75%)had a positive clinical diagnosis.In contrast,of the 13 patients who had minor cMR findings,only 2(15%)had a positive clinical diagnosis.Out of the 95 negative patients,clinical details were available for 81 patients and none of them had ARVC.Excluding the 14 patients with no clinical data and final diagnosis,the sensitivity of the test was 100%,specificity 87%,positive predictive value29%and the negative predictive value 100%.CONCLUSION:CMR is a useful tool for ARVC evaluation because of the high negative predictive value as the outcome has a significant impact on the clinical decision-making.展开更多
BACKGROUND Arrhythmogenic right ventricular(RV)cardiomyopathy is a rare and currently underrecognized cardiomyopathy characterized by the replacement of RV myocardium by fibrofatty tissue.It may be asymptomatic or sym...BACKGROUND Arrhythmogenic right ventricular(RV)cardiomyopathy is a rare and currently underrecognized cardiomyopathy characterized by the replacement of RV myocardium by fibrofatty tissue.It may be asymptomatic or symptomatic(palpitations or syncope)and may induce sudden cardiac death,especially during exercise.To prevent adverse events such as sudden cardiac death and heart failure,early diagnosis and treatment of arrhythmogenic RV cardiomyopathy(ARVC)are crucial.We report a patient with ARVC characterized by recurrent syncope during exercise who was successfully treated with combined endocardial and epicardial catheter ablation.CASE SUMMARY A 43-year-old man was referred for an episode of syncope during exercise.Previously,the patient experienced two episodes of syncope without a firm etiological diagnosis.An electrocardiogram obtained at admission indicated ventricular tachycardia originating from the inferior wall of the right ventricle.The ventricular tachycardia was terminated with intravenous propafenone.A repeat electrocardiogram showed a regular sinus rhythm with negative T waves and a delayed S-wave upstroke from leads V1 to V4.Cardiac magnetic resonance imaging showed RV free wall thinning,regional RV akinesia,RV dilatation and fibrofatty infiltration(RV ejection fraction of 38%).An electrophysiological study showed multiple inducible ventricular tachycardia as of a focal mechanism from the right ventricle.Endocardial and epicardial voltage mapping demonstrated scar tissue in the anterior wall,free wall and posterior wall of the right ventricle.Late potentials were also recorded.The patient was diagnosed with ARVC and treated with combined endocardial and epicardial catheter ablation with a very satisfactory follow-up result.CONCLUSION Clinicians should be aware of ARVC,and further workup,including imaging with multiple modalities,should be pursued.The combination of epicardial and endocardial catheter ablation can lead to a good outcome.展开更多
“Arrhythmogenic right ventricular dysplasia” (ARVD), a heart muscle disorder characterized by the presence of fibro-fatty tissue and ventricular electrical vulnerability related to sudden death, was first described ...“Arrhythmogenic right ventricular dysplasia” (ARVD), a heart muscle disorder characterized by the presence of fibro-fatty tissue and ventricular electrical vulnerability related to sudden death, was first described in 1977 by a French team. Since then, other terms such as “arrhythmogenic right ventricular cardiomyopathy” (ARVC), “arrhythmogenic cardiomyopathy” (AC), “left-dominant arrhythmogenic cardiomyopathy” (LDAC), and “arrhythmogenic left ventricular dysplasia” (ALVD) have been introduced. These changes in nomenclature of the same disease entity are based on different explanations of pathomorphologic patterns. The dysplasia theory claims cardiac growth “maldevelopment” whereas the cardiomyopathy has been seen as an atrophy from acquired injury (myocyte death) and repair (fibrofatty replacement). The other area of divergent opinion is with regards to involvement of both ventricles rather than being an isolated right ventricular anomaly that may result in increased likelihood of diagnosing the concealed form manifesting with pre-dominant left ventricular arrhythmias. Multiple line of evidences support common disease path-ways: Presence of fibro-fatty and superimposed myocarditis, desmosome mutations and malfunc-tion. These compelling data regarding the heart growth, and pathological, clinical, phenotype/ genotype correlates have advanced our understanding of arrhythmogenic ventricular dysplasia/ cardiomyopathy and increased the diagnostic accuracy as well as providing an avenue for future development of new mechanism-based therapies.展开更多
Arrhythmogenic right ventricular dysplasia is an inherited fatal cardiomyopathy causing fat and connective tissue infiltration of right ventricle. In advanced disease, it may also involve left ventricle. Heart failure...Arrhythmogenic right ventricular dysplasia is an inherited fatal cardiomyopathy causing fat and connective tissue infiltration of right ventricle. In advanced disease, it may also involve left ventricle. Heart failure, arrhythmias and sudden death are main clinical components. Many different genetic mutations can cause this cardiomyopathy. All mutations lead to the formation of the disease are not yet defined. Basis of pathogenetic event is corruption of physical connection as well as the electrical conduction between cardiomyocytes due to these genetic reasons. Genetical inheritance is frequently autosomal dominant but incomplete. Because of the many different phenotypes, there may be great heterogenity of clinical manifestations in same family. Diagnostic criteria are renovated lately. Current cardiac imaging techniques for the diagnosis is gradually progressing. A combination of several tests should be used for diagnosis. Early and accurate diagnosis will save lives and improve the patient’s quality of life. In this paper, after mentioning the features and diagnosis of ARVD, differential diagnosis of ARVD from other diseases which may cause fatty infiltration of heart, arrhythmias and sudden death will be focused.展开更多
Arrhythmogenic right ventricular dysplasia(ARVD) is an inherited heart muscle disease.Myocyte apoptosis and fibro-fatty scar tissue predisposes patients to malignant ventricular arrhythmias.Patients may present to var...Arrhythmogenic right ventricular dysplasia(ARVD) is an inherited heart muscle disease.Myocyte apoptosis and fibro-fatty scar tissue predisposes patients to malignant ventricular arrhythmias.Patients may present to variety of surgical procedures with diagnosed ARVD.Surgical insult,catecholamine surge and physiological disturbance can be hazardous on the vulnerable myocardium and may result in life-threatening ventricular tachycardia or sudden cardiac death in the perioperative period.Anaesthetists have particular role in perioperative management of this patient population,meticulous perioperative planning,close haemodynamic monitoring and maintenance of physiological stability throughout helps to avoid devastating perioperative loss.展开更多
We report two unusual cases of sudden unexpected death in children. Histopathologic examination showed intimal fibroplasias, a variant of fibromuscular dysplasia of the right coronary artery associated in both cases w...We report two unusual cases of sudden unexpected death in children. Histopathologic examination showed intimal fibroplasias, a variant of fibromuscular dysplasia of the right coronary artery associated in both cases with fatty infiltration of the right ventricular myocardium. The significance of this particular combination of two lesions known to induce a sudden death in young people is discussed.展开更多
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an autosomal dominant genetic form of cardiomyopathy (CM), which primarily affects the right ventricle (RV) and results in life threatening ventric...Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an autosomal dominant genetic form of cardiomyopathy (CM), which primarily affects the right ventricle (RV) and results in life threatening ventricular arrhythmias and sudden cardiac death (SCD). Diagnosis is difficult due to the broad spectrum of phenoltypic variations, especially in the early stage. Clinical suspicion should be raised in the setting of refractory ventricular tachycardia originating from the RV, and the final diagnosis could be made based on the combination of electrocardiography, echocardiography, cardiac magnetic resonance imaging (CMRI) and myocardial biopsy. Implantable cardioverter-defibrillator (ICD) implantation is an effective option for the treatment of ARVC.展开更多
文摘In der vorliegenden Arbeit wird uber arrhythmogene rechtsventrikulare Dysplasie (ARVD) bei einem eigenen Patienten und einschlagige Literatur diskutiert. Bei den aus dem rechten Ventrikel stammenden Rhythmusstorungen, besonders bei lebensbedrohender Arrhythmie sollte man ARVD denken. Bei Verdacht auf ARVD gewinnt die invasive diagnostische Technik zunehmend an Bedeutung. Heart-Single photon emmission computer tomograph (Herz-SPECT), MRT und Echokardiographie sollten bevorzugt angewandt werden.Behandlung mit Amiodaron ist geeignet fur therapierefraktare lebensbedrohende Arrhythmien bei ARVD und deren Verhutung.
基金supported by the National Natural Science Foundation of China(Nos.82370322 to CC,82200352 to FZ,82300352 to YZ,22275034 to HX,and 82070343 to MLC)the Natural Science Foundation of Jiangsu Province of China(Nos.BK20220710 to FZ and BK20230733 to YZ)Postgraduate Research&Practice Innovation Program of Jiangsu Province(No.JX13414086 to HYC).
文摘Arrhythmogenic right ventricular cardiomyopathy(ARVC)is a progressive disease characterized by adipose and fibrous replacement of the myocardium.While elevated testosterone levels have been implicated in the pathological process of ARVC,its exact contribution to cardiac fibrosis in ARVC remains unclear.In this study,we analyzed the potential contribution of gender-based differences on the distribution of the low-voltage area in an ARVC cohort undergoing an electrophysiological study,which was indicated by feature selection.Additionally,we established engineered cardiac spheroid models in vitro using patient-specific induced pluripotent stem cell(iPSC)-derived cardiomyocytes(iPSC-CMs)and iPSC-derived cardiac fibroblasts(icFBs).We elucidated the pathogenicity of abnormal splicing in the plakophilin-2(PKP2)gene caused by an intronic mutation.Additionally,pathogenic validation of the desmoglein-2(DSG2)point mutation further confirms the reliability of the models.Moreover,testosterone exacerbated the DNA damage in the mutated cardiomyocytes and further activated myofibroblasts in a chain reaction.In conclusion,we designed and constructed an in vitro three-dimensionally-engineered cardiac spheroid model of ARVC based on clinical findings and provided direct evidence of the fibrotic role of testosterone in ARVC.
基金Supported by Russian Science Foundation,No.24-15-20026/12.04.2024St.Petersburg Research Foundation,No.24-15-20026/24.05.2024.
文摘BACKGROUND In this case report,we aimed to raise awareness regarding arrhythmogenic cardiomyopathy(ACM)with inflammatory“hot phase”episodes in pediatric patients,which is often misdiagnosed as myocarditis.This condition,caused by aseptic intracellular inflammation,can be misdiagnosed as acute coronary syndrome or myocardial viral infection,with the latter being particularly common in children.Here,we report two pediatric cases of ACM with“hot phase”episodes and discuss the molecular mechanisms leading to aseptic myocardial inflammation due to desmosome and cytoskeletal damage.CASE SUMMARY The first patient(aged 13 years)was hospitalized after experiencing a single episode of syncope,chest pain,and palpitation.Clinical examination revealed elevated troponin levels,complete right bundle branch block,right ventricular dilation,and normal coronary arteries.Cardiac magnetic resonance imaging(MRI)revealed extensive fibrotic changes in the right ventricle,which was consistent with ACM,and a pathogenic variant in DSG2 confirmed the diagnosis.The second patient(aged 4 years)presented with chest pain and elevated troponin levels.Electrocardiography revealed a left bundle branch block,while echocardiography showed reduced left ventricular contractility.Cardiac MRI demonstrated left ventricular dilation and subepicardial fibrosis.The phenotypic features,such as curly-wool hair,hyperkeratosis,and onychodystrophy,suggested a genetic nature of the disease.Two mutations identified in DSP confirmed the diagnosis of Carvajal syndrome with intermittent“hot phase”episodes.CONCLUSION ACM in children can present with nonspecific inflammatory symptoms,which may be misdiagnosed as myocarditis or coronary artery pathology.
文摘Most cases of sudden cardiac death are attributed to sustained ventricular tachyarrhythmias(VTs), triggered by acute coronary occlusion. Autonomic dysfunction, an important arrhythmogenic mechanism in this setting, is being actively investigated, aiming at the advent of preventive strategies. Recent experimental studies have shown vagal withdrawal after anterior myocardial infarction, coinciding with high incidence of VTs, followed by more gradual sympathetic activation coinciding with a second arrhythmia peak. This article summarizes recent knowledge on this intriguing topic, generating hypotheses that can be investigated in future experimental and clinical studies.
基金Supported by The Georg and Bertha Schwyzer-Winiker Foundation,Zurich,Switzerland
文摘Arrhythmogenic ventricular cardiomyopathy(AVC) isgenerally referred to as arrhythmogenic right ventricu-lar(RV) cardiomyopathy/dysplasia and constitutesan inherited cardiomyopathy.Affected patients maysuccumb to sudden cardiac death(SCD),ventriculartachyarrhythmias(VTA) and heart failure.Geneticstudies have identified causative mutations in genesencoding proteins of the intercalated disk that lead toreduced myocardial electro-mechanical stability.Theterm arrhythmogenic RV cardiomyopathy is somewhatmisleading as biventricular involvement or isolated leftventricular(LV) involvement may be present and thus abroader term such as AVC should be preferred.The di-agnosis is established on a point score basis accordingto the revised 2010 task force criteria utilizing imagingmodalities,demonstrating fibrous replacement throughbiopsy,electrocardiographic abnormalities,ventricu-lar arrhythmias and a positive family history includingidentification of genetic mutations.Although severarisk factors for SCD such as previous cardiac arrest,syncope,documented VTA,severe RV/LV dysfunctionand young age at manifestation have been identified,risk stratification still needs improvement,especially inasymptomatic family members.Particularly,the roleof genetic testing and environmental factors has to befurther elucidated.Therapeutic interventions include re-striction from physical exercise,beta-blockers,sotalol,amiodarone,implantable cardioverter-defibrillators andcatheter ablation.Life-long follow-up is warranted insymptomatic patients,but also asymptomatic carriersof pathogenic mutations.
文摘Cardiomyopathies are defined as diseases of the myocardium with associated structural and functional abnormalities. Knowledge of these pathologies for a long period was not clear in clinical practice due to uncertainties regarding definition,classification and clinical diagnosis. In recent decades,major advances have been made in the understanding of the molecular and genetic issues,pathophysiology,and clinical and radiological assessment of the diseases. Progress has been made also in management of several types of cardiomyopathy. Advances in the understanding of these diseases show that cardiomyopathies represent complex entities. Here,special attention is given to evolution of classification of cardiomyopathies,with the aim of assisting clinicians to look beyond schematic diagnostic labels in order to achieve more specific diagnosis. Knowledge of the genotype of cardiomyopathies has changed the pathophysiological understanding of their etiology and clinical course,and has become more important in clinical practice for diagnosis and prevention of cardiomyopathies. New approaches for clinical and prognostic assessment are provided based on contemporary molecular mechanisms of contribution in the pathogenesis of cardiomyopathies. The genotype-phe-notype complex approach for assessment improves the clinical evaluation and management strategies of these pathologies. The review covers also the important role of imaging methods,particularly echocardiography,and cardiac magnetic resonance imaging in the evaluation of different types of cardiomyopathies. In summary,this review provides complex presentation of current state of cardiomyopathies from genetics to management aspects for cardiovascular specialists.
文摘Arrhythmogenic right ventricular cardiomyopathy(ARVC) is a genetic disease characterized by myocyte loss and fibro-fatty tissue replacement. Diagnosis of ARVC remains a clinical challenge mainly at its early stages and in patients with minimal echocardiographic right ventricular(RV) abnormalities. ARVC shares some common features with other cardiac diseases, such as RV outflow ventricular tachycardia, Brugada syndrome, and myocarditis, due to arrhythmic expressivity and biventricular involvement. The identification of ARVC can be often challenging, because of the heterogeneous clinical presentation, highly variable intra- and inter-family expressivity and incomplete penetrance. This genotypephenotype "plasticity" is largely unexplained. A familial history of ARVC is present in 30% to 50% of cases, and the disease is considered a genetic cardiomyopathy, usually inherited in an autosomal dominant pattern with variable penetrance and expressivity; in addition, autosomal recessive forms have been reported(Naxos disease and Carvajal syndrome). Diagnosis of ARVC relays on a scoring system, with major or minorcriteria on the Revised Task Force Criteria. Implantable cardioverter defibrillators(ICDs) are increasingly utilized in patients with ARVC who have survived sudden death(SD)(secondary prevention). However, there are few data available to help identifying ARVC patients in whom the prophylactic implantation of an ICD is truly warranted. Prevention of SD is the primary goal of management. Pharmacologic treatment of arrhythmias, catheter ablation of ventricular tachycardia, and ICD are the mainstay of treatment of ARVC.
文摘Intense exercise may cause heart remodeling to compensate increases in blood pressure or volume by increasing muscle mass. Cardiac changes do not involve only the left ventricle, but all heart chambers. Physiological cardiac modeling in athletes is associated with normal or enhanced cardiac function, but recent studies have documented decrements in left ventricular function during intense exercise and the release of cardiac markers of necrosis in athlete's blood of uncertain significance. Furthermore, cardiac remodeling may predispose athletes to heart disease and result in electrical remodeling, responsible for arrhythmias. Athlete's heart is a physiological condition and does not require a specific treatment. In some conditions, it is important to differentiate the physiological adaptations from pathological conditions, such as hypertrophic cardiomyopathy, arrhythmogenic dysplasia of the right ventricle, and non-compaction myocardium, for the greater risk of sudden cardiac death of these conditions. Moreover, some drugs and performance-enhancing drugs can cause structural alterations and arrhythmias, therefore, their use should be excluded.
基金supported by the National Natural Science Foundation (81570309)National Key R&D Program of China (2017YFC1307800)。
文摘Background Catheter ablation for ventricular tachycardia(VT) in patients with arrhythmogenic right ventricular cardiomyopathy(ARVC) has significantly evolved over the past decade. However, different ablation strategies showed inconsistency in acute and long-term outcomes. Methods We searched the databases of Medline, Embase and Cochrane Library through October 17, 2019 for studies describing the clinical outcomes of VT ablation in ARVC. Data including VT recurrence, all-cause mortality, acute procedural efficacy and major procedural complications were extracted. A meta-analysis with trial sequential analysis was further performed in comparative studies of endo-epicardial versus endocardial-only ablation. Results A total of 24 studies with 717 participants were enrolled. The literatures of epicardial ablation were mainly published after 2010 with total ICD implantation of 73.7%, acute efficacy of 89.8%, major complication of 5.2%, follow-up of 28.9 months, VT freedom of 75.3%, all-cause mortality of 1.1% and heart transplantation of 0.6%. Meta-analysis of 10 comparative studies revealed that compared with endocardial-only approach, epicardial ablation significantly decreased VT recurrence(OR: 0.50;95% CI: 0.30–0.85;P = 0.010), but somehow increased major procedural complications(OR: 4.64;95% CI: 1.28–16.92;P = 0.02), with not evident improvement of acute efficacy(OR: 2.74;95% CI: 0.98–7.65;P = 0.051) or all-cause mortality(OR: 0.87;95% CI: 0.09–8.31;P = 0.90). Conclusion Catheter ablation for VT in ARVC is feasible and effective. Epicardial ablation is associated with better long-term VT freedom, but with more major complications and unremarkable survival or acute efficacy benefit.
文摘There is increasing awareness among the cardiology community regarding ictal bradyarrhythmias as a cause of loss of consciousness. A high degree of suspicion is necessary when diagnosing ictal bradyarrhythmias, and delay in diagnosing this condition may lead to morbidity associated with falls and trauma. Ictal bradyarrhythmias have also been suggested to be associated with sudden unexplained death in epilepsy, although evidence related to this association is limited. There is no guidelinedirected therapy for symptomatic ictal bradyarrhythmias due to a lack of randomized, controlled trials. Cardiac pacemaker therapy is commonly used for these patients; however, currently, there is no universal agreement on the pacing indications for these patients. In this review, we focus on the pathophysiology and clinical presentation of ictal bradyarrhythmias and then discuss the pacing need based on the available literature data.
基金Supported by Chengdu Science and Technology BureauChina,No.2020-YF05-00290-SN。
文摘BACKGROUND Left-dominant arrhythmogenic cardiomyopathy(LDAC)is a relatively rare disease characterized by poor prognosis that exacerbates the incidence of sudden cardiac death and ventricular arrhythmias.Clinically,LDAC is constantly overlooked or misdiagnosed as myocardial infarction,myocarditis,and dilated cardiomyopathy,owing to atypical and nonspecific clinical manifestations at an early stage.CASE SUMMARY A 57-year-old woman was diagnosed with sinus bradycardia and chronic bifascicular block during a health check.She occasionally experienced mild chest pain and paroxysmal palpitation during activity in the past 2 years.Comprehensive auxiliary examinations,including electrocardiogram,echocardiography,coronary computerized tomography angiography,and magnetic resonance imaging,revealed that she had LDAC instead of congenital ventricular diverticulum.The physicians prescribed standard oral therapy for heart failure and implantable cardioverter-defibrillator.Consequently,her left ventricular systolic function and symptoms remained stable at the 2-year follow-up after discharge.CONCLUSION Based on this case,clinicians need to be aware of LDAC in patients with localized left ventricular lesions and multiple electrocardiographic abnormalities.Multimodality cardiovascular imaging is effective in identification of multiple types of cardiomyopathy and cardiac inner structures.
文摘ObjectiveTo seek potential pathogenic variants in sarcomere genes in arrhythmogenic cardiomyopathy(ACM)and describe the characteristics.Methods and Results We performed targeted sequencing of 14sarcomere genes in 118 cases with the clinical diagnosis of ARVC and Sanger sequencing of the specific variants in family members of the probands.
文摘Background Arrhythmogenic right ventricular cardiomyopathy(ARVC)is an inherited primary cardiomyopathy characterized by myocardial degeneration with fibro-fatty replacement.Clinical and genetic features of ARVC were well identified in Caucasian cohorts,but seldom examined in Chinese cohort.Our aim is to examine the genetic factor,genotype-phenotype correlations,and inheritance patterns of ARVC in a Chinese cohort.
文摘AIM:To evaluate the referrals with suspected arrhythmogenic right ventricular cardiomyopathy(ARVC)and compare cardiac MR(cMR)findings against clinical diagnosis.METHODS:A retrospective analysis of 114(age range16 to 83,males 55%and females 45%)patients referred for cMR with a suspected diagnosis of ARVC between May 2006 and February 2010 was performed after obtaining institutional approval for service evaluation.Reasons for referral including clinical symptoms and family history of sudden death,electrocardiogram and echo abnormalities,cMR findings,final clinical diagnosis and information about clinical management were obtained.The results of cMR were classified as major,minor,non-specific or negative depending on both functional and tissue characterisation and the cMR results were compared against the final clinical diagnosis.RESULTS:The most common reasons for referral included arrhythmias(30%)and a family history of sudden death(20%).Of the total cohort of 114 patients:4 patients(4%)had major cMR findings for ARVC,13patients(11%)had minor cMR findings,2 patients had non-specific cMR findings relating to the right ventricle and 95 patients had a negative cMR.Of the 4 patients who had major cMR findings,3(75%)had a positive clinical diagnosis.In contrast,of the 13 patients who had minor cMR findings,only 2(15%)had a positive clinical diagnosis.Out of the 95 negative patients,clinical details were available for 81 patients and none of them had ARVC.Excluding the 14 patients with no clinical data and final diagnosis,the sensitivity of the test was 100%,specificity 87%,positive predictive value29%and the negative predictive value 100%.CONCLUSION:CMR is a useful tool for ARVC evaluation because of the high negative predictive value as the outcome has a significant impact on the clinical decision-making.
基金Natural Science Basic Research Program of Shaanxi Province,No.2020JQ-939and Science and Technology Development Incubation Fund Project of Shaanxi Provincial People’s Hospital,No.2019YXQ-08.
文摘BACKGROUND Arrhythmogenic right ventricular(RV)cardiomyopathy is a rare and currently underrecognized cardiomyopathy characterized by the replacement of RV myocardium by fibrofatty tissue.It may be asymptomatic or symptomatic(palpitations or syncope)and may induce sudden cardiac death,especially during exercise.To prevent adverse events such as sudden cardiac death and heart failure,early diagnosis and treatment of arrhythmogenic RV cardiomyopathy(ARVC)are crucial.We report a patient with ARVC characterized by recurrent syncope during exercise who was successfully treated with combined endocardial and epicardial catheter ablation.CASE SUMMARY A 43-year-old man was referred for an episode of syncope during exercise.Previously,the patient experienced two episodes of syncope without a firm etiological diagnosis.An electrocardiogram obtained at admission indicated ventricular tachycardia originating from the inferior wall of the right ventricle.The ventricular tachycardia was terminated with intravenous propafenone.A repeat electrocardiogram showed a regular sinus rhythm with negative T waves and a delayed S-wave upstroke from leads V1 to V4.Cardiac magnetic resonance imaging showed RV free wall thinning,regional RV akinesia,RV dilatation and fibrofatty infiltration(RV ejection fraction of 38%).An electrophysiological study showed multiple inducible ventricular tachycardia as of a focal mechanism from the right ventricle.Endocardial and epicardial voltage mapping demonstrated scar tissue in the anterior wall,free wall and posterior wall of the right ventricle.Late potentials were also recorded.The patient was diagnosed with ARVC and treated with combined endocardial and epicardial catheter ablation with a very satisfactory follow-up result.CONCLUSION Clinicians should be aware of ARVC,and further workup,including imaging with multiple modalities,should be pursued.The combination of epicardial and endocardial catheter ablation can lead to a good outcome.
文摘“Arrhythmogenic right ventricular dysplasia” (ARVD), a heart muscle disorder characterized by the presence of fibro-fatty tissue and ventricular electrical vulnerability related to sudden death, was first described in 1977 by a French team. Since then, other terms such as “arrhythmogenic right ventricular cardiomyopathy” (ARVC), “arrhythmogenic cardiomyopathy” (AC), “left-dominant arrhythmogenic cardiomyopathy” (LDAC), and “arrhythmogenic left ventricular dysplasia” (ALVD) have been introduced. These changes in nomenclature of the same disease entity are based on different explanations of pathomorphologic patterns. The dysplasia theory claims cardiac growth “maldevelopment” whereas the cardiomyopathy has been seen as an atrophy from acquired injury (myocyte death) and repair (fibrofatty replacement). The other area of divergent opinion is with regards to involvement of both ventricles rather than being an isolated right ventricular anomaly that may result in increased likelihood of diagnosing the concealed form manifesting with pre-dominant left ventricular arrhythmias. Multiple line of evidences support common disease path-ways: Presence of fibro-fatty and superimposed myocarditis, desmosome mutations and malfunc-tion. These compelling data regarding the heart growth, and pathological, clinical, phenotype/ genotype correlates have advanced our understanding of arrhythmogenic ventricular dysplasia/ cardiomyopathy and increased the diagnostic accuracy as well as providing an avenue for future development of new mechanism-based therapies.
文摘Arrhythmogenic right ventricular dysplasia is an inherited fatal cardiomyopathy causing fat and connective tissue infiltration of right ventricle. In advanced disease, it may also involve left ventricle. Heart failure, arrhythmias and sudden death are main clinical components. Many different genetic mutations can cause this cardiomyopathy. All mutations lead to the formation of the disease are not yet defined. Basis of pathogenetic event is corruption of physical connection as well as the electrical conduction between cardiomyocytes due to these genetic reasons. Genetical inheritance is frequently autosomal dominant but incomplete. Because of the many different phenotypes, there may be great heterogenity of clinical manifestations in same family. Diagnostic criteria are renovated lately. Current cardiac imaging techniques for the diagnosis is gradually progressing. A combination of several tests should be used for diagnosis. Early and accurate diagnosis will save lives and improve the patient’s quality of life. In this paper, after mentioning the features and diagnosis of ARVD, differential diagnosis of ARVD from other diseases which may cause fatty infiltration of heart, arrhythmias and sudden death will be focused.
文摘Arrhythmogenic right ventricular dysplasia(ARVD) is an inherited heart muscle disease.Myocyte apoptosis and fibro-fatty scar tissue predisposes patients to malignant ventricular arrhythmias.Patients may present to variety of surgical procedures with diagnosed ARVD.Surgical insult,catecholamine surge and physiological disturbance can be hazardous on the vulnerable myocardium and may result in life-threatening ventricular tachycardia or sudden cardiac death in the perioperative period.Anaesthetists have particular role in perioperative management of this patient population,meticulous perioperative planning,close haemodynamic monitoring and maintenance of physiological stability throughout helps to avoid devastating perioperative loss.
文摘We report two unusual cases of sudden unexpected death in children. Histopathologic examination showed intimal fibroplasias, a variant of fibromuscular dysplasia of the right coronary artery associated in both cases with fatty infiltration of the right ventricular myocardium. The significance of this particular combination of two lesions known to induce a sudden death in young people is discussed.
文摘Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an autosomal dominant genetic form of cardiomyopathy (CM), which primarily affects the right ventricle (RV) and results in life threatening ventricular arrhythmias and sudden cardiac death (SCD). Diagnosis is difficult due to the broad spectrum of phenoltypic variations, especially in the early stage. Clinical suspicion should be raised in the setting of refractory ventricular tachycardia originating from the RV, and the final diagnosis could be made based on the combination of electrocardiography, echocardiography, cardiac magnetic resonance imaging (CMRI) and myocardial biopsy. Implantable cardioverter-defibrillator (ICD) implantation is an effective option for the treatment of ARVC.
