Long QT syndrome: importance of reassessing arrhythmic risk after treatment initiation

Background and Aims Risk scores are proposed for genetic arrhythmias. Having proposed in 2010 one such score (M-FACT) for the long QT syndrome (LQTS), this study aims to test whether adherence to its suggestions would be appropriate. Methods LQT1/2/3 and genotype-negative patients without aborted cardiac arrest (ACA) before diagnosis or cardiac events (CEs) below age 1 were included in the study, focusing on an M-FACT score >= 2 (intermediate/high risk), either at presentation (static) or during follow-up (dynamic), previously associated with 40% risk of implantable cardioverter defibrillator (ICD) shocks within 4 years. Results Overall, 946 patients (26 +/- 19 years at diagnosis, 51% female) were included. Beta-blocker (beta B) therapy in 94% of them reduced the rate of those with a QTc >= 500 ms from 18% to 12% (P < .001). During 7 +/- 6 years of follow-up, none died; 4% had CEs, including 0.4% with ACA. A static M-FACT >= 2 was present in 110 patients, of whom 106 received beta Bs. In 49/106 patients with persistent dynamic M-FACT >= 2, further therapeutic optimization (left cardiac sympathetic denervation in 55%, mexiletine in 31%, and ICD at 27%) resulted in just 7 (14%) patients with CEs (no ACA), with no CEs in the remaining 57. Additionally, 32 patients developed a dynamic M-FACT >= 2 but, after therapeutic optimization, only 3 (9%) had CEs. According to an M-FACT score >= 2, a total of 142 patients should have received an ICD, but only 22/142 (15%) were implanted, with shocks reported in 3. Conclusions Beta-blockers often shorten QTc, thus changing risk scores and ICD indications for primary prevention. Yearly risk reassessment with therapy optimization leads to fewer ICD implants (3%) without increasing life-threatening events.