Genotype-specific risk stratification and management of patients with long QT syndrome

Alon Barsheshet*, Olena Dotsenko, Ilan Goldenberg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Long QT syndrome (LQTS) is an inherited disorder associated with life-threatening ventricular arrhythmias. An understanding of the relationship between the genotype and phenotype characteristics of LQTS can lead to improved risk stratification and management of this hereditary arrhythmogenic disorder. Risk stratification in LQTS relies on combined assessment of clinical, electrocardiographic, and mutations-specific factors. Studies have shown that there are genotype-specific risk factors for arrhythmic events including age, gender, resting heart rate, QT corrected for heart rate, prior syncope, the postpartum period, menopause, mutation location, type of mutation, the biophysical function of the mutation, and response to beta-blockers. Importantly, genotype-specific therapeutic options have been suggested. Lifestyle changes are recommended according to the prevalent trigger for cardiac events. Beta-blockers confer greater benefit among patients with LQT1 with the greatest benefit among those with cytoplasmic loops mutations; specific beta-blocker agents may provide greater protection than other agents in specific LQTS genotypes. Potassium supplementation and sex hormone-based therapy may protect patients with LQT2. Sodium channel blockers such as mexiletine, flecainide, and ranolazine could be treatment options in LQT3.

Original languageEnglish
Pages (from-to)499-509
Number of pages11
JournalAnnals of Noninvasive Electrocardiology
Issue number6
StatePublished - Nov 2013


  • cardiac arrest/sudden death
  • long QT syndrome


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