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Updated: Oct 5, 2025

In Silico Clinical Trials for Cardiovascular Disease
Published on: May 27, 2022
Clinical applicability of artificial intelligence for patients with an inherited heart disease: A scoping review
Hidde Bleijendaal1, Philip M Croon2, Marinka D Oudkerk Pool3
1University of Amsterdam, Heart Center; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Meibergdreef 9, Amsterdam, The Netherlands; University of Amsterdam, Department of Clinical Epidemiology, Biostatistics & Bioinformatics, Meibergdreef 9, Amsterdam, The Netherlands; Member of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart).
Abstract:
The number of inherited heart disease (IHD) studies using artificial intelligence (AI) has increased rapidly over the last years. In this scoping review, we aimed to present an overview of the current literature available on the applicability of AI within the field of IHD. The literature search resulted in eighteen articles in which an AI model was trained and tested, mostly for diagnostic and predictive purposes. The areas under the receiver operating characteristic curves ranged from 0.78-0.96, but varied between IHD types, used methods and outcome measures. Only three out of eighteen did perform validation on an external dataset and most studies did not use explainable deep learning models. To be able to integrate AI as a tool to aid physicians in their diagnoses and clinical decisions within the IHD field, generalizability has to be better evaluated and explainability of DL models has to be increased.
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