Papworth Everard

Researchers are studying arrhythmogenic ventricular cardiomyopathy AVC, a genetic heart condition that can cause heart failure and serious rhythm problems, including sudden cardiac arrest or death. This observational study aims to discover new genetic variants and biomarkers linked to AVC, improve diagnosis and screening methods especially for blood relatives, and understand how genetic differences relate to disease symptoms and progression. The Mayo Clinic and Papworth Hospital collaborate on this registry to collect detailed clinical and genetic data from patients with AVC and their family members. Participants include people diagnosed with AVC or with sudden cardiac arrest or death suspected to be caused by AVC, as well as their blood relatives who may or may not have the condition. The study gathers a wide range of data including medical history, ECGs, imaging tests like echocardiograms and cardiac MRIs, exercise tests, biopsies, and blood, saliva, and buccal samples for genetic and biomarker analysis. Follow-up includes annual clinical assessments and screening every three years for relatives to monitor disease development and progression. Throughout the study, participants will undergo various tests such as ECG monitoring, imaging, exercise stress tests, and sample collections to track heart function and disease markers. Data will be securely managed to protect privacy. Researchers will evaluate genetic information alongside clinical data to identify risk factors for sudden cardiac death and to better understand AVCs natural history. The study plans to continue indefinitely to gather long-term information on disease progression and outcomes.