Congenital heart disease diagnosis using machine learning: a systematic literature review

Congenital heart disease is among the most common fetal abnormalities and birth defects. Despite identifying numerous risk factors influencing its onset, a comprehensive understanding of its genesis and management across diverse populations remains limited. Recent advancements in machine learning have demonstrated the potential for leveraging patient data to enable early congenital heart disease detection. Over the past seven years, researchers have proposed various data-driven and algorithmic solutions to address this challenge. This paper presents a systematic review of congenital heart disease recognition using machine learning, conducting a meta-analysis of 432 references from leading journals published between 2018 and 2025. A detailed investigation of 74 scholarly works highlights key factors, including databases, algorithms, applications, and solutions. Additionally, the survey outlines reported datasets used by machine learning experts for congenital heart disease recognition. Using a systematic literature review methodology, this study identifies critical challenges and opportunities in applying machine learning to congenital heart disease.