New registry offers hope for families with heart risk

Hereditary heart diseases, such as cardiomyopathies and cardiac electrical disorders, are leading causes of sudden cardiac arrest—especially in young, otherwise healthy individuals. Early detection and personalized treatment are crucial to preventing premature death and severe complications.

Recognizing this urgent need, Amsterdam UMC’s Professor Connie Bezzina and a consortium of Dutch university medical centers have launched CardioResource, the first national registry for patients with heritable cardiac conditions. This initiative, funded by the Dutch Research Council (NWO), aims to transform cardiac care through advanced data integration, AI, and precision medicine.

From genetic discovery to data-driven care

For over two decades, Professor Bezzina has led pioneering research into the genetic underpinnings of hereditary heart diseases. Her work revealed that while some genetic mutations directly cause heart conditions, others—known as genetic modifiers—influence disease severity and progression. These modifiers explain why individuals with the same mutation can experience vastly different outcomes, from asymptomatic carriers to those suffering life-threatening arrhythmias or heart failure.

Bezzina’s research, published in leading journals like Nature Genetics, demonstrated the critical role of these modifiers in conditions such as Brugada syndrome and hypertrophic cardiomyopathy (HCM). However, mapping the full spectrum of genetic and environmental factors requires a comprehensive, national-scale data bank—one that integrates genetic, clinical, and imaging data from thousands of patients.

The hereditary heart disease patients registry

CardioResource is a collaborative initiative involving all seven major Dutch university medical centers. By pooling resources and expertise, the consortium aims to create a unified, high-quality data infrastructure that supports:

• Advanced genetic analysis to identify primary mutations and genetic modifiers.
• AI-driven integration of clinical and imaging data for more accurate diagnoses and risk stratification.
• Longitudinal tracking of patients and their families to understand disease progression and treatment responses.

This registry will not only enhance diagnostic precision but also accelerate the development of targeted therapies tailored to individual genetic profiles.

Improving diagnosis and treatment

The CardioResource data bank will enable researchers and clinicians to:

1. Identify High-Risk Patients Earlier. By analyzing genetic and clinical data, the registry will help predict which individuals are most likely to develop severe complications, allowing for proactive interventions.
2. Develop Personalized Risk Profiles. By combining data on primary mutations and genetic modifiers, clinicians can create individualized risk assessments, ensuring each patient receives the most appropriate care.
3. Accelerate Research and Innovation. The registry’s vast dataset will serve as a foundation for breakthrough research, including the discovery of new genetic markers and the development of novel therapies.
4. Support Families and Future Generations. Hereditary heart diseases often affect multiple family members. CardioResource will provide families with clearer insights into their genetic risks, empowering them to make informed decisions about screening and prevention.

A brighter future for cardiac patients

CardioResource is one of five projects selected for funding under NWO’s Research Infrastructure Program, which supports innovative scientific infrastructures. The consortium received a grant of over €4.8 million, reflecting the project’s potential to deliver high societal impact and scientific excellence.

The registry is expected to grow rapidly, incorporating data from thousands of patients and becoming a model for similar initiatives worldwide. For patients and families affected by these life-threatening conditions, CardioResource offers hope for a future where sudden cardiac arrest is no longer an inevitable fate—but a preventable risk.