Key result
Long QT syndrome management shifts from empirical therapy toward personalized care integrating genetics, gene editing, and AI.
Why the study?
Long QT syndrome is a heterogeneous hereditary or acquired myocardial repolarization disorder carrying a high risk of torsades de pointes and sudden cardiac death, prompting a review of the evolution of its scientific understanding from initial 1950s clinical descriptions to modern molecular genetics.
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This literature review traces the evolution of long QT syndrome research from initial clinical descriptions and empirical therapy to modern molecular genetics, gene editing, and AI-driven personalized management.
Long QT syndrome (LQTS) is a heterogeneous hereditary or acquired myocardial repolarization disorder associated with a high risk of torsades de pointes ventricular arrhythmia and sudden cardiac death. This review traces the evolution of scientific understanding of LQTS from the first clinical descriptions in the 1950s to modern advances in molecular genetics. Particular attention is paid to key stages in the pathophysiological conceptualization of the syndrome, including the role of the sympathetic nervous system, T-wave alternans, the introduction of β-blockers and left cardiac sympathetic denervation, as well as the identification of genes responsible for various LQTS subtypes (KCNQ1, KCNH2, SCN5A, etc.). Current research directions are reviewed: the use of induced pluripotent stem cells, gene correction methods (siRNA, CRISPR/Cas9), and artificial intelligence for diagnosis and risk stratification. The contribution of domestic researchers to the development of clinical and genetic approaches to studying the syndrome is noted. The accumulated experience indicates a transition from empirical therapy to personalized management of patients with LQTS and outlines prospects for further research in the areas of genetic modifiers, pathogenetic treatments, and digital technologies in cardiology.
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Sheyanova et al. (2026) conducted a review in Long QT syndrome. Long QT syndrome management has evolved from empirical therapy since the 1950s to personalized care integrating molecular genetics, stem cells, gene editing, and AI.
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