Abstract

BackgroundMachine 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. MethodData 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. ResultsThe 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. ConclusionsThe 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.

Highlights

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent disease among familial cardiomyopathies, and affects about one in 500 people

  • Phenotype and have a stable course over the years, without evidence of heart failure (HF) progression. They remain at increased risk of life-threatening arrhythmias and sudden cardiac death (SCD) compared to the general population [1]

  • hypertrophic cardiomyopathy (HCM) progresses towards progressive left ventricular (LV) dysfunction and refractory HF

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Summary

Introduction

Hypertrophic cardiomyopathy (HCM) is the most prevalent disease among familial cardiomyopathies, and affects about one in 500 people. Most patients with HCM exhibit the “classic” hypercontractile HCM phenotype and have a stable course over the years, without evidence of heart failure (HF) progression They remain at increased risk of life-threatening arrhythmias and sudden cardiac death (SCD) compared to the general population [1]. HCM progresses towards progressive left ventricular (LV) dysfunction and refractory HF Such remodeling can take a long time (>10 years), it may be more precipitous and lead to death or cardiac trans­ plantation even at a young age. 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 use of a machine-learning risk stratification model may improve patient management, clinical practice, and outcomes in general

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