PhD defence S.A.C. (Stephan) Schoonvelde

Below is a brief summary of the dissertation:

In recent years, we've greatly improved our understanding of heart muscle diseases (cardiomyopathies). Advances in imaging, easier genetic testing, and deeper knowledge of how these diseases develop have helped doctors better diagnose and treat patients. Yet, important questions remain unanswered.

People with cardiomyopathies experience the disease differently. Even if two people carry the same genetic variant, one might develop severe symptoms while the other stays healthy. This complexity highlights the importance of personalized medicine, care tailored specifically to an individual's genetics and symptoms. Just as cancer treatments now depend on the individual characteristics of each patient's cancer, heart diseases are moving towards this precise, personalized approach.

In our research, we studied inherited cardiomyopathies, with a primary focus on hypertrophic cardiomyopathy (HCM), a common genetic heart disease, to measure its impact on quality of life and societal costs (the AFFECT-HCM study). We found that younger, symptomatic patients faced the biggest reductions in quality of life and had high healthcare and societal costs (like reduced employment). Furthermore, we also explored how individuals differ in how they develop symptoms and how we can better identify and manage different patient groups based on disease presentation and genetic profiles.

Overall, our studies underline that every patient is unique. Future care must include personalized treatments, considering genetics, lifestyle, and individual characteristics like age, sex, and body size. This tailored approach can prevent mismanagement, improve outcomes, and enhance the quality of life for people with heart muscle diseases.