Active clinical trials for "Arrhythmogenic Right Ventricular Dysplasia"

The study aims to use flecainide infusion test as diagnostic test to unmask concealed Brugada Syndrome cases. It proposes to assess the safety profile of this test in US patients and its higher sensitivity when compared to procainamide infusion (the conventional drug used in the USA). As a substudy it proposes to apply this test to early ARVC cases in order to evaluate if ECG changes similar to those seen in Brugada Syndrome could be unmasked by flecainide iv.

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited condition that may cause life threatening irregular heart rhythms that often manifest as unexpected cardiac arrest or sudden death in early adulthood. The condition is difficult to diagnose and often is not noticed until a family member suffers a cardiac arrest or death. The Canadian National ARVC registry will collect data from Inherited Heart Rhythm Clinics across Canada. STUDY OBJECTIVES: Primary: To determine the natural history of ARVC (short/intermediate term), including risk of symptomatic arrhythmias and sudden death, for patients with the phenotype and those gene positive patients without phenotype evidence of disease. To understand risk factors for sudden death/appropriate ICD use in ARVC, including test characteristics/performance and their relationship to outcomes (ECG, Holter, signal averaged ECG, loop recorders, imaging, voltage mapping, T wave alternans, cardiac biopsy and biomarkers). To establish a phenotype genotype correlation, including comparison of patients with disease causing mutations, variants of unknown significance (VUS) and Task Force Criteria (TFC) positive, gene negative patients

The CASPER will collect systematic clinical assessments of patients and families within the multicenter Canadian Inherited Heart Rhythm Research Network. Unexplained Cardiac Arrest patients and family members will undergo standardized testing for evidence of primary electrical disease and latent cardiomyopathy along with clinical genetics screening of affected individuals based on an evident or unmasked phenotype.

The arrhythmogenic right ventricular cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia (ARVC/D) is a rare myocardial disease with a prevalence estimated to range from 1 case on 5000 persons in the general population. It have a dominant genetic transmission characterized by alterations of desmosomial proteins and predominantly affects the right ventricle. The morphological alteration of the myocardium characterized by fibro-fatty substitution predisposes to arrhythmic events that can be fatal and cause death especially in young people and athletes. International guidelines provide a classification that includes clinical and histological criteria for diagnosis based on fibrous tissue substitution, percentage and right ventricle localization. Indeed, it is mainly affected the right ventricle but in some cases also the left ventricle result involved and the fatty tissue or fibro-fatty tissue with particular arrangement may affect the full-thickness wall are pathognomonic. Authors identified 10 cases of arrhythmogenic cardiomyopathy in forensic autopsy collocated in the 2003 to 2017, included 8 males and 2 females. Their age ranged from 16 to 45 years with an average age of 28.8±8.1 years. However, authors would like to demonstrate that with ARVC/D cannot be include only cases with increased fibrosis and exclusive localization to the right ventricle nor even cases with electrocardiographic alterations and other evident clinical criteria. Indeed, in the analyzed cases authors observed an amount of fibrosis often less than the percentage reported in the literature and an involvement not only of the right ventricle but also of the septum and associated sinister ventricular modifications. To this must be added that the cases of death did not have a sudden death of relatives in family history as described in guidelines and therefore this criterion is not reliable for the purpose of a classification.

The purpose of this trial is to study the genetic and phenotypic aspects of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C), and determine the impact of genetic testing in clinical practice.

This study will examine the usefulness of a new test called an isoproterenol challenge in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and family members who may have the disease but do not have clear-cut evidence of it. ARVC is a rare condition that runs in families. Heart muscle is replaced with fatty, scar-like tissue, especially in the right ventricle (lower pumping chamber of the heart), and can sometimes extend to the left ventricle (the main pumping chamber). The fat can interfere with the heartbeat, producing abnormal heart rhythms, such as ventricular tachycardia (VT) - a very fast heartbeat that can cause sudden death, especially in young people. Isoproterenol is a drug that increases heart rate and heart muscle contractions. In isoproterenol challenge, subjects are given increasing doses of the drug through a catheter (see details below) to try to produce an abnormal heart rhythm. ARVC is hard to diagnose with current tests. This study will see if isoproterenol challenge provokes VT in patients with the disease and can confirm the diagnosis; if it can detect the disease in family members better than currently available tests; and if it provokes abnormal rhythms in healthy control subjects. In addition, the study will explore the genetics of ARVC and determine whether infection could contribute to its development. Patients with ARVC, their family members, and normal volunteers 18 years of age and older may be eligible for this study. Candidates are screened with a medical history and physical examination, electrocardiogram (EKG), treadmill and bicycle exercise testing, and an echocardiogram (ultrasound test of the heart). Participants undergo the following tests and procedures: Blood tests - Blood is collected to study the genetics of ARVC, to test for evidence of old infections, and to measure brain natriuretic peptide - a hormone that can increase with development of heart failure. Heart magnetic resonance imaging (MRI). This test looks at heart structure and function. MRI uses a magnetic field and radio waves to produce images of body tissues and organs. The subject lies on a table that is moved into the scanner (a narrow cylinder), wearing earplugs to muffle loud knocking sounds that occur during the scanning process. At some time during the test, the subject is given a contrast agent called gadolinium through a catheter (thin, flexible tube) in a vein to improve the scan pictures. The scan time varies from 30 to 90 minutes, with most scans lasting 60 minutes. (Control subjects do not undergo MRI.) Isoproterenol challenge. Subjects are given increasing doses of isoproterenol through a catheter until the heart rate reaches 100 to 120 beats per minute for no more than 1 hour. A special EKG records heart rhythm during the test and an echocardiogram records right and left ventricular function. QRST surface mapping EKG. This special EKG, done with 64 or 120 leads, maps abnormalities of heart rhythm and cardiac conduction during the isoproterenol challenge. These tests are like a regular EKG, except that more leads are placed on the chest, and on the back as well. Patients and family members who wish to have follow-up visits may return to the NIH Clinical Center once a year for 5 years for guidance about therapy based on clinical considerations and new information or investigations.

This is a joint project by Heidelberg University and Greifswald University. Our objective is to establish an unique national multi-center registry and biobank of well phenotyped patients with non-ischemic cardiomyopathies (CMP) including in depth clinical, molecular and omics-based phenotyping to serve as: central hub for clinical outcome studies. joint resource for diagnostic and therapeutic trials. common biomaterial bank. resource for detailed molecular analyses on patients' biomaterials and patient specific model systems.

Arrhythmogenic Cardiomyopathy (ACM) is increasingly identified as an important cause of cardiac morbidity and mortality, especially of SCD, in a younger population. Although there are no epidemiological data available, the investigators' experience is that in the North Indian region, ACM is rare outside our regions. ACM is also an understudied cardiac disorder in the South-Asian region. An ethnic nonmigratory population inhabits the two regions, and consanguineous marriages are common. Based on these observations, the investigators firmly believe that there may be a founder gene in our populations responsible for the increased incidence of ACM. Our project includes a thorough phenotypic analysis ((ECG, Holter, and echocardiography) in the ACM patients and their first-degree relatives; cardiac MRI and high resolution endocardial bipolar and unipolar voltage mapping (using HD grid catheter) in the patients. The patient provided blood for the extraction of DNA will first undergo target panel sequencing for 20 known classic right-dominant ACM and left-dominant ACM. If this is negative for known pathogenic and likely pathogenic variants but identified novel variants of uncertain significance (VUS), then co-segregation analysis in family members will be performed. This technique can provide helpful information to reclassify VUSs. If both these are negative, then whole-exome 'trio' analysis will be performed, whch includes the proband and two family members, to triangulate from all 20,000 genes to a list of candidates for further interrogation. The investigators wish to provide comprehensive answers to the research question by combining the genetic analysis with phenotypic evaluation.

This study aims to 1)characterize the differentially expressed metabolites between cardiomyopathy patients and healthy controls,2)identify the specific biomarkers associated with outcomes or risk evaluation in patients with different cardiomyopathies in a follow-up of a cohort and 3)to determine whether differentially expressed may affect the pathological process of cardiomyopathies . Standardized protocols will be used for the assessment of medical history and examinations, laboratory biomarkers, and the collection of blood plasma.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare condition in which the heart muscle cells especially of the main pumping chamber (the 'ventricle') is replaced by fat and scar tissue. Sarcoidosis is a condition that can affect many organs but when it affects the heart patches of inflammation can result in scarring, especially of the ventricles. Both conditions can cause dangerous heart rhythms and sudden death. Sarcoidosis can be treated with inflammation suppressing treatment (steroids), as well as pacemakers and implantable defibrillators which shock the heart back to normal rhythm. ARVC is usually treated with implantable defibrillators. The diagnosis of either condition can be difficult and indeed distinguishing the two can be extremely challenging. Increasingly nuclear scans (PET) are used to identify inflammation in the heart in patients suspected of having cardiac sarcoid. It is not known whether patients with ARVC have abnormal PET scans.