Managing long QT syndrome patients, cooking, and common sense

This essay stems from a controversial recommendation present in the 2022 European Guidelines which indicated the appropriateness of considering an implantable cardioverter defibrillator (ICD) implant even for still asymptomatic long QT syndrome (LQTS) patients deemed to be at high risk by the 1–2–3 LQTS score based on QTc and genotype calculated prior to the institution of therapy. As 15 years ago, we also had proposed, but never used, a risk score called M-FACT to identify patients at high risk of an appropriate ICD shock, we felt the responsibility of assessing what would have happened to our patients if we had rigorously used that score. We performed a study recently published in the European Heart Journal which brought to general attention two concepts important for clinical management. One is that all LQTS patients should be seen at least once a year for a reassessment of arrhythmic risk based on standard electrocardiogram, 12-lead 24 h Holter recording and an exercise stress test. The other is that, based on these yearly visits, we perform ‘therapy optimization’ by adding to the standard β-blocker therapy either left cardiac sympathetic denervation or mexiletine or an ICD implant. On almost 1000 LQTS patients, all genotyped, this dynamic approach was accompanied by not a single death, few events, and out of 142 patients who should have received an ICD based on the score, only 22 did and only 3 had an ICD shock. These data and concepts call for a reconsideration of the recommendation made by the guidelines.