TY - JOUR
T1 - Genotype-specific risk stratification and management of patients with long QT syndrome
AU - Barsheshet, Alon
AU - Dotsenko, Olena
AU - Goldenberg, Ilan
PY - 2013/11
Y1 - 2013/11
N2 - 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.
AB - 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.
KW - cardiac arrest/sudden death
KW - long QT syndrome
UR - http://www.scopus.com/inward/record.url?scp=84889884547&partnerID=8YFLogxK
U2 - 10.1111/anec.12117
DO - 10.1111/anec.12117
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C2 - 24206565
AN - SCOPUS:84889884547
SN - 1082-720X
VL - 18
SP - 499
EP - 509
JO - Annals of Noninvasive Electrocardiology
JF - Annals of Noninvasive Electrocardiology
IS - 6
ER -