ECG project UMCU

Inherited cardiovascular diseases often run in families, with a 50% chance of passing on the disease-causing genetic defect to children. When a genetic mutation is found in the first family member diagnosed (called the proband), other relatives can get tested to see if they have the same mutation and – when they are carrier - be monitored and timely treated if needed. Unfortunately, less than half of the at-risk relatives don't seek genetic counseling in the first years of the proband's diagnosis. The eCG (electronic Cardiovascular Genetics) Family Clinic was created to stimulate families to test themselves after the diagnosis of the proband by making this process easier and more accessible. The Research  In the eCG Family Clinic consortium, a team of software experts, doctors, and specialists in ethics, law, economics, communication, and psychology work together to develop and implement a virtual clinic that offers personalized information and support through a virtual assistant, allowing relatives to make informed decisions about testing and treatment. Because this consortium believes that involving all possible affected stakeholders is crucial for its success, it frequently consults with probands, family members, healthcare professionals, and advocates to understand their needs. The prototype is designed while keeping the important economic, ethical, and legal aspects of this new approach in mind. The prototype of the eCG Family Clinic is tested in real healthcare settings to see how well it works compared to current practices Origin This project is funded within the Innovative Medical Devices Initiative (IMDI) program 'Heart for Sustainable Care'. The focus of this program is the development of medical technology for the earlier detection, monitoring, and better treatment of cardiovascular diseases to ensure accessible healthcare and sufficient staffing. The program has been developed en funded by the Dutch Heart Foundation, ZonMw and NWO, who collaborate within the Dutch CardioVascular Alliance.

Sudden cardiac arrest (SCA) remains a significant public health challenge, accounting for nearly 20% of all deaths in developed nations and approximately half of all heart disease-related fatalities. A notable subset of SCA cases occurs in individuals without prior heart disease diagnosis, resulting in profound psychosocial impacts on affected families and society. Ventricular fibrillation (VF) is the primary arrhythmia leading to SCA, often occurring outside healthcare settings with survival rates ranging from 5% to 20%. Prevention is crucial, yet gaps in our understanding of SCA causes and mechanisms hinder effective prevention efforts. Various genetic and non-genetic factors, such as gender, age, comorbidities, and lifestyle, likely influence SCA risk, but their specific contributions remain unclear. The Focus The PREDICT2 initiative brings together leading Principal Investigators with expertise in epidemiology, clinical studies, genetics, and functional research to elucidate factors contributing to SCA, uncover underlying mechanisms, and develop strategies for prevention and treatment. The Research Building on foundational work from PREDICT1, which involved extensive patient characterization and preclinical model development, PREDICT2 focuses on inherited arrhythmia syndromes as models to understand the arrhythmogenic substrate in more common cardiac syndromes associated with SCA. Specifically, PREDICT2 aims to: Identify genetic and non-genetic factors that contribute to SCA risk and develop personalized risk prediction algorithms for individual patient assessment. Conduct functional studies to elucidate the mechanisms underlying SCA, enabling the development of novel risk stratification and therapeutic approaches. Implement clinical studies to evaluate risk prediction algorithms and therapeutic interventions, aiming to enhance the treatment and prevention of SCA. Origin This consortium was funded through the Impulse Grant program by the Dutch Heart Foundation.