A unsupervised data-driven characterization of cardiovascular disease by self-organizing maps (SOM) approach

Cardiovascular diseases (CVD) are among the leading causes of mortality worldwide due to genetic predisposition and lifestyle factors. Proper diagnosis of cardiovascular diseases is crucial to provide early-stage treatments. Conventional diagnostic methods such as stress tests, electrocardiograms, and echocardiography detect valuable insights into rhythm abnormalities, structural anomalies, or other cardiovascular conditions. However, their reliability heavily depends on human expertise, and they may not always detect early-stage signs of disease. In recent years, Machine Learning (ML) models have emerged as alternative diagnosis tools, capable of identifying CVD with higher accuracy. ML enables automated and precise detection based on data relationships, capturing hidden, complex patterns that are not apparent through traditional diagnostics. Most ML approaches employ supervised learning, which requires labeled data that are not always available in medical records. Under such circumstances, unsupervised learning has been explored as a suitable alternative. In this paper, a hybrid unsupervised approach combines the neural network structure of Self-Organizing Maps (SOM) with the dimensionality reduction technique of Principal Component Analysis (PCA) for unsupervised analysis for clustering CVD across different severity levels. Considering a data compression mechanism, the synergy among these methods leverages the ability to map unsupervised complex, high-dimensional data into lower-dimensional space. The proposed approach significantly improves the detection of hidden structures within large, high-dimensional medical cardiovascular datasets, providing insights into cardiovascular risk factors and improving the overall diagnostic process. Experimental evaluation on the UCI Cleveland Heart Disease dataset shows that the proposed PCA-SOM model achieves a Silhouette score of 0.94 (train) and 0.79 (test), and a Davies-Bouldin index of 0.08 (train) and 0.16 (test), outperforming baseline clustering methods such as K-means, hierarchical clustering, Gaussian Mixture and Spectral clustering highlighting its potential for supporting CVD detection.