Pre-Test Probability and Genes and Variants of Uncertain Significance in Familial Long QT Syndrome

The genetics underlying familial long QT syndrome (LQTS) are among the best characterised of all of the inherited heart conditions. Cohort and registry studies have demonstrated important genotype-phenotype correlations that are now essential in guiding clinical practice of patients with the most common three genotypes; KCNQ1 (LQT type 1), KCNH2 (LQT type 2) and SCN5A (LQT type 3). However, the growing number of genes —now more than 16—is confusing, and there is much doubt as to whether many actually cause LQTS at all.

Source: Heart, Lung and Circulation - January 1, 2020 Category: Cardiology Authors: Kathryn E. Waddell-Smith, Jonathan R. Skinner, J Martijn Bos Source Type: research