Papworth Everard

Researchers are investigating arrhythmogenic ventricular cardiomyopathy (AVC), a genetic heart condition that can cause heart failure and dangerous rhythm problems, including sudden cardiac arrest or death. This study involves patients with AVC or sudden cardiac death possibly due to AVC, along with their blood relatives, aiming to uncover new genes and biomarkers linked to AVC. The research focuses on understanding disease onset, progression, and arrhythmia risks by correlating genetic information with clinical and imaging data collected over several years. The study collects extensive data from participants, including clinical history, ECGs, echocardiograms, cardiac MRIs, Holter monitoring, exercise tests, and biopsies. Blood, saliva, and buccal samples are also gathered for genetic and biomarker analysis. Follow-up visits occur annually or every three years to monitor disease progression and include repeated imaging and cardiac function tests. Data are collected at Mayo Clinic in the US and Papworth Hospital in the UK, with a long-term goal to maintain the registry indefinitely for ongoing research. Participants undergo thorough assessments including family history spanning three generations, various heart monitoring tests, and questionnaires about daily activities. Genetic testing and biomarker discovery are key components, with stored blood samples analyzed for known and novel markers. Safety and disease progression are closely monitored through regular follow-ups, and data privacy is maintained with secure electronic records. The primary outcomes measured are genetic profiles and the relationship between genotype and clinical features over three to six years.