Spectrum of genetic variants detected in children tested for long QT syndrome

Less stringent referral criteria may reduce the diagnostic yield of genetic testing for LQTS. In our cohort, 17% of patients with 1 type LQTS had genetic variants located in regions associated with elevated arrhythmic risk. This knowledge should be considered as part of their individualised care plans. Furthermore, the identification of multiple variants of uncertain significance highlights the ongoing need for enhanced interpretive frameworks to integrate complex genetic findings into routine clinical decision-making.