Key Points Long QT Syndrome Long QT syndrome is a leading cause of sudden death in young persons, with a prevalence exceeding 1 in 2000. It is characterized by prolongation of the QT interval, aberrant T-wave morphologic features, and the propensity toward life-threatening arrhythmias triggered mostly by adrenergic activation. Long QT syndrome is caused by variants in genes encoding primarily for potassium-ion and sodium-ion channels. Common genetic variants (in modifier genes) increase or decrease the arrhythmic risk linked to the disease-causing variants and can contribute to risk stratification. The current therapies — including treatment with beta-blockers, left cardiac sympathetic denervation, and mexiletine — are extremely effective and limit the need for an implantable cardioverter–defibrillator to a small percentage of patients. Genotype-specific management is important. Gene therapy is promising but is not yet ready for clinical use. Arrhythmic risk and the approach to therapy need to be reassessed at yearly visits to allow optimization of therapy.

Schwartz, P., Crotti, L. (2025). Long QT Syndrome. THE NEW ENGLAND JOURNAL OF MEDICINE, 393(20), 2023-2034 [10.1056/NEJMra2400853].

Long QT Syndrome

Crotti L.
2025

Abstract

Key Points Long QT Syndrome Long QT syndrome is a leading cause of sudden death in young persons, with a prevalence exceeding 1 in 2000. It is characterized by prolongation of the QT interval, aberrant T-wave morphologic features, and the propensity toward life-threatening arrhythmias triggered mostly by adrenergic activation. Long QT syndrome is caused by variants in genes encoding primarily for potassium-ion and sodium-ion channels. Common genetic variants (in modifier genes) increase or decrease the arrhythmic risk linked to the disease-causing variants and can contribute to risk stratification. The current therapies — including treatment with beta-blockers, left cardiac sympathetic denervation, and mexiletine — are extremely effective and limit the need for an implantable cardioverter–defibrillator to a small percentage of patients. Genotype-specific management is important. Gene therapy is promising but is not yet ready for clinical use. Arrhythmic risk and the approach to therapy need to be reassessed at yearly visits to allow optimization of therapy.
Articolo in rivista - Review Essay
Adolescent Medicine; Arrhythmias/Pacemakers/Defibrillators; Cardiology; Cardiology; Cardiology General; Clinical Medicine; Clinical Medicine General; Congenital Heart Disease; Genetics; Genetics General; Pediatrics; Pediatrics General;
English
19-nov-2025
2025
393
20
2023
2034
reserved
Schwartz, P., Crotti, L. (2025). Long QT Syndrome. THE NEW ENGLAND JOURNAL OF MEDICINE, 393(20), 2023-2034 [10.1056/NEJMra2400853].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/595910
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