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Arrhythmogenic right ventricular cardiomyopathy is a hereditary myocardial condition in most cases that affects the right ventricle, but also the left ventricle with variable degree. It predisposes patients to ventricular arrhythmia, heart failure and sudden death. Its diagnosis remains challenging and is mostly based on reference task-force criteria. The latter, divided between major and minor criteria, include structural abnormalities (visualized on echocardiography or cardiac magnetic resonance), electrocardiographic anomalies, ventricular arrythmia documentation, histological proof of fibro-fatty infiltrates within myocardial tissue and family history. Following a correct diagnosis, patient-tailored care is essential. First, implantation of an implantable cardioverter-defibrillator is recommended in case of history of sudden death, sustained ventricular tachycardia or advanced right/left ventricular dysfunction. It should be considered in case of cardiac syncope or non-sustained ventricular tachycardia. Secondly, eviction of high intensity physical activity is mandatory. Finally, beta-blockers are recommended for all patients with clinically manifest arrhythmogenic right ventricular cardiomyopathy.

Arrhythmogenic right ventricular dysplasia is a rare, but not exceptional pathology combining the occurrence of potentially fatal arrhythmias with a gradual deterioration of the structure and function of the right ventricle. In this article, we discuss the etiopathology of the disease and emphasize the diagnostic approach.

Arrhythmogenic right ventricular dysplasia (ARVD) is cardiomyopathy where normal myocardial tissue is replaced with fibrofatty tissue. Histological examination performed on myocardial biopsy or on autopsy samples are used to confirm the diagnosis. However, in many cases, the diagnosis cannot be made on a simple macroscopic and histological study and requires genetic analysis and molecular biology. In this work, we propose to describe the main macroscopic and histological findings of ARVD through the study of an autopsy series. We report 12 autopsy cases of sudden death in ARVD collected in the Department of Forensic Medicine of the University Hospital Fattouma Bourguiba Monastir (Tunisia) during a period of 20years. Microscopic examination was performed on 5microns thick histological sections. All slides were reviewed by two operators in a double blind (physician pathologist, pathologist) and in each, the percentage of adipose tissue, fibrosis and infarction in the right ventricle, left ventricle and interventricular septum, the presence or absence of inflammatory infiltrate, the presence or absence of signs of degeneration of myocytes were noticed. ARVD was found in 12 cases (1.8% of sudden cardiac death). The age ranged between 13 and 67years (mean age: 45.3years). The death occurred in half of the cases during exercise. Macroscopic examination of the RV showed the presence of a wall thinning (thickness3mm) in 9 cases. Histological study highlight RV adipose infiltration in all cases with a percentage between 15% and 60%, fibrotic lesions were observed in only 9 cases with an average percentage of 10.25% and signs of degeneration of myocytes were noted in 10 cases. In concordance with what has been reported in the literature, there is still no consensus regarding the criteria to be adopted to pose with certainty the diagnosis of ARVD and the presence of adipose tissue remains the criterion more suggestive.

To develop profile of the victims and to study circumstances, causes of death and autopsy findings.Retrospective study of cases of sudden death in sport activity whose autopsy was performed in forensic department of Tunis, between January 2005 and December 2009.During study period, 32 cases of SD in sport activity were recorded. These are amateur athletes predominantly male (84% of cases). Victims are aged between 15 and 79 years with an average age of about 33.16 years. Young subjects whose age is less than 35 years representing 68.7% of cases. 9.3% of victims had a family history of SD and 18.7% of cases had a known cardiac history. The sports most involved are running (40.6% of cases), football (31.3% of cases) and dance (12.5% of cases). Sixty-nine percent of victims died during sports activities. Presence of witnesses was noted in all cases; however, none of these witnesses has begun resuscitation. Cause of death was cardiac in 84.4% of cases. In young athletes, hypertrophic cardiomyopathy is the leading cause (nine cases), followed by arrhythmogenic right ventricular dysplasia (three cases). Among other causes, there is the myocardial bridge, congenital anomalies of the coronary arteries, aortic dissection and dilated cardiomyopathy. Beyond 35 years, coronary artery diseases represent the cause of death (nine cases). Only case of death secondary to non-cardiac disease occurred after a severe asthma attack. In four cases (12.5%), no cause of death was identified after a complete autopsy accompanied by further investigations. The cause of the death was imputed to a rhythmic pathology.This is the first study dealing with autopsy in SD in sport have provided a specific profile of victims. Other studies on larger samples and using standardized autopsy protocols are needed.

The arrhythmogenic right ventricular dysplasia (ARVD) is a rare heart muscle disorder, occurring typically in young adults. The diagnosis remains difficult. The aim of our study was to evaluate the contribution of Doppler echocardiography in the diagnosis and screening for ARVD. Eighteen patients, followed in our cardiology department for ARVD and 10 "witnesses" in good condition were evaluated by echocardiography. We have essentially clarified the dimensions of the RV, its kinetics segmental, Doppler tricuspid flow, the study of movement of the tricuspid annulus in M-mode and tissue Doppler. We have compared the results of echocardiography at those of MRI and RV angiography. In our series, pathological measurement of the RV was found in all patients. No one of the control group had expansion of the RV. Twelve of our patients had abnormal wall motion. The displacement of the tricuspid annulus is reduced both in septal and lateral position. In tissue Doppler, Ea/Aa was lower than in healthy subjects in 15 cases in the lateral position and 16 cases in septal position. ETT is superior to MRI and RV angiography in the diagnosis of localized forms. The family survey, conducted in 38 parents of eight consenting families allowed to screen seven subjects. All these patients had abnormal Doppler echocardiography. Doppler echocardiography is a reliable and efficient investigation for the diagnosis of ARVD. It remains on the first intention to review a suspected ARVD.

Arrythmogenic right ventricular dysplasia (ARVD) is rare disease but it is a major cause of sudden death in young people and in athletes. ARVD is a cardiomyopathy characterized by structural and functional abnormalities of the right ventricle precipitating its electrical instability. This electrical instability is responsible for ventricular arrhythmias. Sudden death, by ventricular fibrillation, may be the first symptom of the disease. The diagnosis is based upon specific ventricular pathology at the histological level as well as typical electrocardiographic and diagnostic imaging features. A better understanding of the disease has increased along with the new data on genetics. Its management remains a challenge because of the wide spectrum of clinical presentation as well as its natural history. We present a case of ARVD and its evolution in order to show the difficulties of the management of this particular entity.

Hereditary cardiomyopathy is a primitive disorder in which the heart muscle is structurally and functionally abnormal in the absence of any other cause of cardiomyopathy. They are separated into four phenotypic groups, hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic cardiomyopathy of the right ventricle. Hypertrophic cardiomyopathy was the first identified at the molecular level and then the first to benefit of molecular testing. The molecular analyses were then extended the following years to the dilated cardiomyopathy and restrictive cardiomyopathy. The arrhythmogenic right ventricular cardiomyopathy was the latest to be analyzed at the molecular level because the identification of genes involved in that phenotype was published only in 2002 to 2006. The genetics analysis of these diseases has developed over the past decade and, although still complex, is now available in current hospital practice. The objectives of these tests are to confirm a diagnosis difficult to achieve by classic clinical approach and to perform predictive and presymptomatic diagnosis in families when the mutation was identified. This allows for appropriate care of patients at risk, and may respond to a request for prenatal diagnosis in particularly serious forms. These tests are framed in the context of genetic counselling consultation and patients are the subjects of a multidisciplinary care in reference centres.

To discuss the utility of magnetic resonance imaging in the evaluation of arrhythmogenic right ventricular cardiomyopathy.16 patients with suspicious ARVC joined this study from January 2005 to May 2008. CMR was performed on a 1.5 Tesla GE signa scanner. Short axis view, four-chamber view and long axis view of tow ventricle were acquired by white blood technique (Fast cine sequence). Short axis view and long axis view of right ventricle were acquired by black blood techniques (Double IRFSE and Triple IRFSE). The ARVC was diagnosed by MRI and golden criteria respectively.Of the 16 patients, 11 were diagnosed ARVC by MRI, 9 were by golden criteria. 9 ARVC patients were manifested by thinning of RV wall, dilatation of the RV (8 cases) trabecular hypertrophy and disarray (6 cases), fat signal intensity of right ventricular(RV)wall in DIRFSE,irregular insular pieces or continuity breaking of myocardium in TIRFSE (3 cases) dilatation of the LV (2cases), a bit thickening of ventricular septum (1case), enlargement of the outflow of the right ventricular(RV) (2 cases) and ventricular aneurysm formation (2 cases).And the positions including apex of the right ventricle (4 cases), facies diaphragmatica (6 cases), anterior ventricle (4 cases), infundibulum (4 cases) and the papillary muscle of the RV (1case) were involved.CMR is a specific and sensitive examination technique in diagnosing of ARVC, which could present structural, functional changes and the quality, degree, range of the disease. We should take this examination as the routine method if suspect ARVC in clinical.

Sudden death during sport is a rare and unexpected event. It essentially affects young males, and a cardiomyopathy that had not been diagnosed during medical examinations is present in the majority of cases. In young subjects, there is generally hypertrophic cardiomyopathy or arhythmogenic right ventricular dysplasia. This is revealed during sporting activity, and sudden death is often the first symptom of the disease. Competitive sport increases the relative risk of sudden death to 2.5 compared to the risk in a non-sporting subject. The prevalence of sudden death during competitive sport is poorly understood. From the rare studies available, it could be estimated at 2.3/100,000 athletes per year. In Europe, it essentially occurs during football matches. However, the prevalence of sudden death during so-called 'recreational' sports is not precisely known. It could be much higher because these activities involve a larger number of people, and take place without supervision and usually without a medical examination beforehand. The participants are older, and coronary pathology is usually implicated.

Arrhythmogenic right ventricular dysplasia is an unfrequent disease that associates ventricular tachycardia with left bundle branch block morphology and right ventricular fibro-fatty degeneration. The etiology, pathogenesis, criteria for diagnosis and treatment are discussed.

International audience; INTRODUCTION: Recent progress in molecular biology led to the identification of the genes involved in various cardiac arrhythmias causing syncope and sudden death in young people. EXEGESIS: This article briefly describes the clinical features and the genes associated with the congenital long QT syndrome, the short QT syndrome, Brugada's syndrome, catecholaminergic polymorphic ventricular tachycardias and arrhythmogenic right ventricular dysplasia. CONCLUSION: Identification of genetic variations that cause cardiac tachyarrhythmias can help to identify at risk-patients and to propose clinical follow-up and preventive therapy. Further studies are needed to discover other cardiac genetic disorders and to understand cellular mechanisms involved in these diseases.

ARVD manifests itself by a wide spectrum of clinical presentations from asymptomatic patients to a broad range of ventricular arrhythmia, extrasystoles, tachycardia, or sudden arrhythmic death which can be the first symptom. It is a major cause for sudden death in young people and sportsmen. In known ARVD the risk of sudden death is not easy to assess from the literature, as its natural history is modulated by the wide variety of antiarrhythmic therapies. Hemodynamically ill tolerated ventricular arrhythmia, left ventricular involvement, sports, a youger age below 35, and uncontrolled therapy seem to predict an adverse outcome for these patients. These data may be helpful to decide for an AICD.

Congestive cardiac failure could be as important as cardiac arrhythmias in the natural history of arrhythmogenic right ventricular dysplasia. This can be related to the progressive replacement of myocardium by fat and fibrosis of the right ventricle. The left ventricle may also be involved by the same disease process. Moreover, inflammation can be superimposed on ARVD, resulting in a wide spectrum of clinical presentation which can mimick idiopathic dilated cardiomyopathy. Right ventricular cardiac failure has been controlled by anterior dynamic cardiomyoplasty.

There is only a few data on sudden unexpected death (SUD) in the pediatric population, as well as the role of sport.Between 1980 and 2003, 2220 autopsies were performed at the Lyon's forensic institute for SUD (all ages) as defined by world health organization.Fifty-seven cases of SUD of cardiac origin concerned 6 to 18-year-old children. Hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy remained the main causes of SUD. Mitral valve prolapse were frequently observed and for the most part of the cases associated with other diseases. Twenty-four were observed during physical activity.Our study confirms the low incidence of SUD and its male predominance in the pediatric population (47 males, 10 females). It seems that physical activity is not the decisive factor for SUD. The authors emphasized the necessity to get a rapid access to cardiac resuscitation devices, as well as the formation of collaborators. Some preventive measures could be done.

Arrhythmogenic right ventricular dysplasia (ARVD) is a cardiomyopathy of unknown etiology responsible for 20% of cases of sudden death in young adults secondary to arrhythmia. It is characterized histologically by fatty or fibro-fatty infiltration of the right ventricular myocardium. Diagnostic criteria have been proposed for diagnosing ARVD. Imaging, especially MRI, plays an important role. MR imaging must be performed using cardiac gating, and should include both cine-MR sequences for evaluation of segmental and global right ventricular function or any morphological change of the right ventricular shape, and anatomic sequences to detect fatty or fibro-fatty infiltration of the right ventricular myocardium.

To retrospectively evaluate the contribution of MRI to the diagnosis of arrhythmogenic right ventricular dysplasia (ARVD).Thirty two men and 18 women (mean age: 48.7 years) were imaged using gated spin echo scans and short axis cine MR. References were McKenna criteria (gold standard), and also what we called "strong presumption" which may correspond to early or localized patterns, but correspond to negative McKenna scores.One patient was claustrophobic; another one was lost to follow-up. In reference to McKenna score, diagnosis of ARVD was established in 12 patients (2 of whom had familial dilated biventricular cardiomyopathy with rhythmic expression). Sensitivity, specificity, positive predictive value, negative predictive value and prevalence were respectively: 75%, 75%, 50%, 90% and 25%. Using "strong presumption" criteria, we observed 14 true positives (with sensitivity of 82%, specificity of 87%, PPV of 78%, NPV of 90% and prevalence of 35%).In our group, MRI was always performed before angiography. In our series, right ventricular wall T1W hyperintensity was the most frequent finding.

The aim of this study is to evaluate new echocardiographic modes in diagnosis of arrhythmogenic right ventricular dysplasia (ARVD). Our study is prospective, including ten patients with ARVD and a control group of ten healthy subjects. Transthoracic echocardiography included evaluation of classical criteria's, cross sectional measurements of the right ventricular. M mode and pulsed tissue Doppler techniques were used for quantitative measurement of tricuspid annular motion at the lateral and septal positions. Assessed by M mode, the total amplitude of the tricuspid annular motion was decreased in the lateral and septal positions in the patients compared with the controls. The tissue Doppler velocity pattern showed decreased early diastolic peak annular (Ea) velocity and an accompanying decrease in early (Ea) to late diastolic(Aa) velocity ratio in all positions; the systolic annular velocity was decreased only in the lateral position. Tricuspid annular measurement are valuable, easy to obtain and allow quantitative assessment of right ventricular function. ARVC patients showed an abnormal velocity pattern that may be an early but non specific sign of disease.

We report an autopsy case of a cardiomyopathy characterized by fatty replacement of the right ventricular myocardium and compare its clinical and histologic characteristics with those of the arrhythmogenic right ventricular cardiomyopathy. A 39-year old male died suddenly in a hospital room. He had an alcoholic cirrhosis with ascitis, but the clinical examination and the biology showed no abnormalities explaining the death. Histologically, in the right ventricle, large areas of cardiomyocytes were replaced by fat, but there was no fibrosis. In contrast, fibrosis is present in association with fat in arrhythmogenic right ventricular cardiomyopathy. Fatty replacement of the right ventricle is likely to be a distinct entity. Right ventricular failure has been shown to be a possible complication. Sudden death is probably rare and is likely to occur when other arrhythmogenic factors are associated.

A major episode of hepatic cytolysis, rapidly regressive and occasionally recurrent, evokes a bilary or toxic pathology. We report an exceptional case in which several episodes of cytolysis were secondary to a paroxystic cardiac rhythm disorder.A 44 year-old woman was hospitalized 3 times during 4 months for episodes of asthenia and rapidly regressive cytolysis. Lithiasic, viral, metabolic, autoimmune and toxic causes were eliminated. A cardiac rhythm disorder was revealed during the last two episodes and diagnosis was made of intermittent and asymptomatic ventricular tachycardia, secondary to arryhthmogenic right ventricular dysplasia, and was confirmed on the electrocardiogram, cardiac scan and magnetic resonance imaging. Treatment of the cardiac rhythm led to the absence of further relapse.In our patient, the clinical and chronological imputability appeared highly probable. The responsibility of perturbed cardiac rhythm in the genesis of an ischemic hepatopathy is classical, but little documented. Our observation confirms that severe unexplained cytolysis requires systematic search for a cardiac rhythm disorder, even in the absence of a known or symptomatic cardiopathy.

Arythmogenic right ventricular dysplasia (ARVD) was supposed to be a part of VHL diseases; ARVD is in fact a well defined anatomo-pathological entity, originally described by Fontaine and Frank in 1977. The authors report 4 new cases of ARVD were desmitted at the department of cardio A. The disease was announced by the usual rhythmic disorders. The diagnostics of ARVD was based upon a bundle of electrical, echocardiographic and histological arguments. The rhythmic stability was obtained in three cases with medical treatment, the endocavity ablation was necessary in one case. A study of the diagnostic and therapeutic forms is performed from a literature review.

We report a case of arrhythmogenic right ventricular cardiomyopathy revealed by sudden death during exercise in a 13-year-old patient. Postmortem diagnosis was made on multiple tissue samples taken from right ventricular free wall, showing light adipous infiltration of the myocardium at gross examination. Arrhythmogenic right ventricular cardiomyopathy is histologically characterized by fibro-fatty replacement of right ventricular myocardium. Left ventricular involvement may be observed. Diagnosis at an early stage is often difficult. Etiology remains unknown. Since familial occurrence has been documented, postmortem identification is useful for the other members of the family.

The diagnosis of localized arrhythmogenic right ventricular dysplasia may be difficult to ascertain. Aside from electrophysiological arguments, visualization of an abnormal right ventricular contraction pattern is of crucial importance for diagnosis. Cine-MR is almost the only examination method which offers detailed informations on the right ventricular contraction pattern. Nine observations of segmental right ventricular contraction abnormalities assessed by cine-MR are described here: dyskinesia of the distal part of the anterior wall (2), of the inferior wall (2), of the right ventricular outflow tract (2); akinesia of the outflow tract (2) and of the inferior wall (1). Morphological abnormalities of the right ventricle are always associated with contraction abnormalities but seem to be less disease specific. Patients should be more readily referred for a cine-MR examination when the diagnosis of localized right ventricular dysplasia is suspected. Cine-MR sequences related to these observations may be reached via Internet at:http:@alsace.u-strasbg.fr/cardio/coeur.htm.

Arrhythmogenic right ventricular dysplasia is a polymorphous clinical entity. Its diagnosis is difficult in incomplete forms or at the onset of the disease. The diagnosis is based on the association of clinical, electrocardiographic and electrophysiologic signs which are the result of a specific pathological structure, consisting of fibromuscular bundles isolated from each other by fatty tissue resulting from apoptosis and/or the basic dysplastic phenomenon. These fibers are oriented in a parallel direction and connected at their extremities with normal myocardium. These fibromyocyte bundles seem to constitute a tissue with preferential conduction, which could explain reentry phenomena, and therefore the basis for the pathogenesis of ventricular arrhythmias. The various clinical aspects of ARVD have similar morphological patterns, but a completely different prognosis and outcome.

We report the case of a 16-year-old girl who experienced sudden cardiac arrest from ventricular fibrillation, complicating an arrhythmogenic right ventricular dysplasia, a rare heart muscle disorder, occurring typically in young adults, characterized by a fibrofatty replacement of the right ventricular myocardium. Symptomatic ventricular arrhythmias are frequent, and sudden death has been reported. In our case, diagnosis of arrhythmogenic dysplasia was based on the association of one major criterion and two minor criteria as suggested by the relevant task force. In contrast with most other reports, the chest ECG did not display the typical features. An automatic transvenous pectoral cardioverter-defibrillator was implanted. The authors emphasise that juvenile forms are more exposed to ventricular fibrillation and sudden cardiac death, and consequently require the early detection of the disease. Family cases have been described and the occurrence in one individual must lead to investigations in the relatives.

Assessing 100 cases of arrhythmogenic right ventricular dysplasia causing unexpected sudden death, we stress two aspects of the disease, specially concerning pathologists: diagnosis value and limitations of endomyocardial biopsy and high frequency of the disease among unexpected sudden death in young adults. When the disease is identified genetic screening should be performed among patient's family members. The anterior right ventricular wall is very thin (partly or completely) and microscopic examination shows absence of muscle cells, replaced by normal fatty tissue. Associated lesions are often present: slight abnormalities of left ventricle, mucoid degeneration of auriculo-ventricular valves and recently described lesions of His conductive tissue. Apoptotic anomalies are now incriminated for agenesy or disappearing right ventricular muscle.

M cells as well as vortex like reentrant tachycardia could explain the torsade de pointes pattern leading to sudden death at night in a patient with arrhythmogenic right ventricular dysplasia and saddle-back ST segment elevation in lead V2. The mechanism of the torsade is explained by the two-dimensional structure of the right ventricular free wall reconstructed from paraffin blocks. This case may represent a particular form of Brugada's syndrome and cases of sudden death in young males in South East Asia.