Improving Early Detection of Cardiac Disease

Cardiovascular disease is often diagnosed late, at a stage when irreversible damage has already occurred. Since effective treatments exist for heart failure, atrial fibrillation, and coronary artery disease, earlier detection is essential to enable timely intervention and prevent disease progression. This thesis investigates the burden of undiagnosed cardiovascular disease in high-risk primary care populations and evaluates whether a structured, symptom-driven diagnostic approach can improve early detection. In part I of this thesis, we examined which patients are at increased risk of developing cardiac diseases. Using large population-based cohorts from Dutch primary care, we demonstrated that patients with type 2 diabetes and chronic obstructive pulmonary disease (COPD) have a substantially higher incidence of heart failure, coronary artery disease, and atrial fibrillation compared with individuals without these conditions. The relative excess risk was particularly pronounced at younger ages, while absolute incidence increased with advancing age. Notably, COPD appeared to attenuate typical sex differences in cardiovascular risk, especially in younger women. Across both high-risk groups, heart failure frequently emerged as the first manifestation of cardiovascular disease. We further showed that the epidemiology of heart failure is evolving. Although age-standardized incidence has stabilized or declined in high-income countries, the absolute number of patients continues to rise due to population ageing and improved survival. Despite advances in care, prognosis remains poor, with high rates of hospitalization and long-term mortality. In Part II, we focused on improving early detection in primary care. We developed and validated a simple, symptom-based questionnaire to identify individuals with previously unrecognized cardiovascular disease. This questionnaire was implemented in the RED-CVD trial, a pragmatic cluster-randomized diagnostic study in patients with diabetes and/or COPD. A proactive, stepwise strategy—combining symptom assessment, targeted physical examination, ECG, and NT-proBNP measurement—was compared with usual care. This approach nearly tripled the detection of new cardiovascular diagnoses, particularly heart failure. However, increased detection did not translate into short-term improvements in treatment, lifestyle interventions, or health-related quality of life. This may reflect limited therapeutic options at the time of the study, variability in clinical decision-making, and the identification of earlier-stage or milder disease. These findings highlight a key challenge of early detection: improved diagnosis does not automatically lead to improved patient outcomes. In conclusion, this thesis demonstrates that patients with diabetes and COPD are at high risk of developing cardiovascular diseases—particularly heart failure—and that proactive, structured diagnostic strategies in primary care are feasible and substantially increase early detection. While the clinical impact on patient outcomes remains to be established, these findings provide an important foundation for future research. With the emergence of effective therapies, particularly for heart failure with a preserved ejection fraction, early detection strategies may become increasingly relevant when integrated with clear treatment pathways and long-term follow-up.