Wilhelm Haverkamp

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 authors observed significantly longer conduction intervals on baseline ECG in patients with established SCN5A mutations (PQ and HV interval and, upon class I drugs, more QRS increase) which concur with the observed loss of function of mutated BS-related sodium channels.

TL;DR: It is concluded that missense mutations in the examined cLQ TS genes explain only a minority of aLQTS cases, and are thus unlikely to significantly influence aL QTS susceptibility.

TL;DR: Genetic testing of SCN5A is especially useful in familial disease to identify individuals at cardiac risk and in sporadic cases, however, a genetic basis and the value of mutation screening has to be further determined.

TL;DR: All patients with aborted sudden death or unexplained syncope without demonstrable structural heart disease and family members of affected individuals should presently undergo drug testing for unmasking BS using ajmaline using a protocol with fractionated drug administration.