A machine learning-based risk stratification model for ventricular tachycardia and heart failure in hypertrophic cardiomyopathy

Smole, Tim (author), Žunkovič, Bojan (author), Pičulin, Matej (author), Kokalj, Enja (author), Robnik Šikonja, Marko (author), Kukar, Matjaž (author), Fotiadis, Dimitrios I. (author), Pezoulas, Vasileios C. (author), Tachos, Nikolaos S. (author), Barlocco, Fausto (author), Mazzarotto, Francesco (author), Popović, Dejana (author), Maier, Lars S. (author), Velicki, Lazar (author), MacGowan, Guy A. (author), Olivotto, Iacopo (author), Filipović, Nenad (author), Jakovljević, Djordje G. (author), Bosnić, Zoran (author)

Background: Machine learning (ML) and artificial intelligence are emerging as important components of precision medicine that enhance diagnosis and risk stratification. Risk stratification tools for hypertrophic cardiomyopathy (HCM) exist, but they are based on traditional statistical methods. The aim was to develop a novel machine learning risk stratification tool for the prediction of 5-year risk in HCM. The goal was to determine if its predictive accuracy is higher than the accuracy of the state-of-the-art tools. Method: Data from a total of 2302 patients were used. The data were comprised of demographic characteristics, genetic data, clinical investigations, medications, and disease-related events. Four classification models were applied to model the risk level, and their decisions were explained using the SHAP (SHapley Additive exPlanations) method. Unwanted cardiac events were defined as sustained ventricular tachycardia occurrence (VT), heart failure (HF), ICD activation, sudden cardiac death (SCD), cardiac death, and all-cause death. Results: The proposed machine learning approach outperformed the similar existing risk-stratification models for SCD, cardiac death, and all-cause death risk-stratification: it achieved higher AUC by 17%, 9%, and 1%, respectively. The boosted trees achieved the best performing AUC of 0.82. The resulting model most accurately predicts VT, HF, and ICD with AUCs of 0.90, 0.88, and 0.87, respectively. Conclusions: The proposed risk-stratification model demonstrates high accuracy in predicting events in patients with hypertrophic cardiomyopathy. The use of a machine-learning risk stratification model may improve patient management, clinical practice, and outcomes in general.

• Language: English
• Keywords: hypertrophic cardiomyopathy, risk stratification, machine learning, artificial intelligence
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: FRI - Faculty of Computer and Information Science
• Publication status: Published
• Publication version: Version of Record
• Year: 2021
• Number of pages: 9 str.
• Numbering: Vol. 135, art. 104648
• PID: 20.500.12556/RUL-138683
• UDC: 004.8:616.12-008.46
• ISSN on article: 0010-4825
• DOI: 10.1016/j.compbiomed.2021.104648
• COBISS.SI-ID: 71489795
• Publication date in RUL: 09.08.2022

SMOLE, Tim, ŽUNKOVIČ, Bojan, PIČULIN, Matej, KOKALJ, Enja, ROBNIK ŠIKONJA, Marko, KUKAR, Matjaž, FOTIADIS, Dimitrios I., PEZOULAS, Vasileios C., TACHOS, Nikolaos S., BARLOCCO, Fausto, MAZZAROTTO, Francesco, POPOVIĆ, Dejana, MAIER, Lars S., VELICKI, Lazar, MACGOWAN, Guy A., OLIVOTTO, Iacopo, FILIPOVIĆ, Nenad, JAKOVLJEVIĆ, Djordje G. and BOSNIĆ, Zoran, 2021, A machine learning-based risk stratification model for ventricular tachycardia and heart failure in hypertrophic cardiomyopathy. Computers in biology and medicine [online]. 2021. Vol. 135,  104648. [Accessed 30 March 2025]. DOI 10.1016/j.compbiomed.2021.104648. Retrieved from: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=eng&id=138683

Record is a part of a journal

• Title: Computers in biology and medicine
• Shortened title: Comput. biol. med.
• Publisher: Elsevier
• ISSN: 0010-4825
• COBISS.SI-ID: 189801

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: Slovenian
• Keywords: hipertrofična kardiomiopatija, napovedovanje tveganja, strojno učenje, umetna inteligenca

Projects

• Funder: EC - European Commission
• Funding programme: H2020
• Project number: 777204
• Name: In silico trials for drug tracing the effects of sarcomeric protein mutations leading to familial cardiomyopathy
• Acronym: SILICOFCM