Carla Spazzolini

TL;DR: Life-threatening arrhythmias in LQTS patients tend to occur under specific circumstances in a gene-specific manner, allowing new insights into the mechanisms that relate the electrophysiological consequences of mutations on specific genes to clinical manifestations and offer the possibility of complementing traditional therapy with gene- specific approaches.

TL;DR: The cumulative probability of a first cardiac event, defined as the occurrence of syncope, cardiac arrest, or sudden death before the age of 40 years and before the initiation of therapy, was determined according to genotype, sex, and the QT interval corrected for heart rate.

TL;DR: This study provides the first data-based estimate of the prevalence of LQTS among whites and advances the hypothesis that this prevalence might be close to 1:2000, thus allowing effective preventive measures.

TL;DR: LCSD is associated with a significant reduction in the incidence of aborted cardiac arrest and syncope in high-risk LQTS patients when compared with pre-LCSD events, however, LCSD is not entirely effective in preventing cardiac events including sudden cardiac death during long-term follow-up.

TL;DR: J-LN syndrome is a most severe variant of LQTS, with a very early onset and major QTc prolongation, and in which β-blockers have limited efficacy; early therapy with implanted cardioverter/defibrillators must be considered.