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Association of genetic and clinical aspects of congenital long QT syndrome with life-threatening arrhythmias in Japanese patients

JAMA Cardiology Mar 27, 2019

Shimizu W, et al. - Whether a gender-specific disparity exists in the genotype-based risk stratification of long QT syndrome (LQTS) was investigated in this retrospective observational study of 1,124 genotype-positive patients (663 females and 461 males; mean [SD] age, 20 [15] years) with LQTS from 11 Japanese institutions. Researchers found a higher risk of arrhythmic events in relation to pathogenic variants in the pore areas of the channels, vs other variants in each genotype, while patients with LQTS type 1 and type 2, but not those with LQTS type 3, demonstrated gender-related disparities. Based on genotype, variant site, age, and sex, a varied risk for cardiac events was seen in LQTS.

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