The Importance of Genetic and Clinical Data Features in Risk Stratification of Patients with Hypertrophic Cardiomyopathy

Abstract

Hypertrophic cardiomyopathy is a genetic cardiovascular disease which affects the heart’s left ventricle. This paper presents the results obtained from examining the importance of clinical and genetic data points in risk strati-fication of patients with hypertrophic cardiomyopathy. The significance of fea-tures was gathered in consultations with cardiologists as well as from the evalu-ation of created classification models built for the purposes of risk assessment. The main goal of the study was to find hidden knowledge within the dataset that could be used to further improve classification results and to compare the aforementioned knowledge with the information gathered from doctors with the goal of potentially improving the manual diagnostics approach. The study was conducted on genetic and clinical data separately as well as on a combined da-taset. The importance of parameters was calculated with two different classifi-cation models, and was also calculated using two different methods of manual data annotation. All of the acquired results show both similarities and differ-ences from one another. The acquired results were evaluated based on the pre-dictive abilities of classification models.