Applying Artificial Intelligence for Phenotyping of Inherited Arrhythmia Syndromes

Inherited arrhythmia disorders account for a significant proportion of sudden cardiac death, particularly among young individuals. Recent advances in our understanding of these syndromes have improved patient diagnosis and care, yet certain clinical gaps remain, particularly within case ascertainment, access to genetic testing and risk stratification. Artificial intelligence (AI), specifically machine learning and its subset deep learning, present promising solutions to these challenges. The capacity of AI to process vast amounts of patient data and identify disease patterns differentiates them from traditional methods, which are time and resource intensive. To date, AI models have demonstrated immense potential in condition detection (including asymptomatic/concealed disease) and genotype and phenotype identification, exceeding expert cardiologists in these tasks. Additionally, they have exhibited applicability for general population screening, improving case ascertainment in a set of conditions that are often asymptomatic such as left ventricular dysfunction. Third, models have displayed ability to improve testing protocols, as through model identification of disease and genotype, specific clinical testing (e.g. drug challenges or further diagnostic imaging) can be avoided, reducing health care expenses, speeding diagnosis, and possibly allowing for more incremental or targeted genetic testing approaches. These significant benefits warrant continued investigation of the field, particularly regarding the development and implementation of clinically applicable screening tools. This review summarizes key developments in the field, including studies in Long QT Syndrome, Brugada Syndrome, Hypertrophic Cardiomyopathy, and Arrhythmogenic Cardiomyopathies, and provides direction for effective future AI implementation in clinical practice.