Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1)

AAM Wilde, RJE Jongbloed, PA Doevendans… - Journal of the American …, 1999 - jacc.org
AAM Wilde, RJE Jongbloed, PA Doevendans, DR Düren, RNW Hauer, IM Van Langen
Journal of the American College of Cardiology, 1999jacc.org
Objective This study was performed to identify a possible relationship between genotype
and phenotype in the congenital familial long QT syndrome (cLQTS). Background The
cLQTS, which occurs as an autosomal dominant or recessive trait, is characterized by QT-
interval prolongation on the electrocardiogram and torsade de pointes arrhythmias, which
may give rise to recurrent syncope or sudden cardiac death. Precipitators for cardiac events
are exercise or emotion and occasionally acoustic stimuli. Methods The trigger for cardiac …
Abstract
Objective
This study was performed to identify a possible relationship between genotype and phenotype in the congenital familial long QT syndrome (cLQTS).
Background
The cLQTS, which occurs as an autosomal dominant or recessive trait, is characterized by QT-interval prolongation on the electrocardiogram and torsade de pointes arrhythmias, which may give rise to recurrent syncope or sudden cardiac death. Precipitators for cardiac events are exercise or emotion and occasionally acoustic stimuli.
Methods
The trigger for cardiac events (syncope, documented cardiac arrhythmias, sudden cardiac death) was analyzed in 11 families with a familial LQTS and a determined genotype.
Results
The families were subdivided in KVLQT1-related families (LQTS1, n = 5) and HERG (human ether-a-gogo-related gene)-related families (LQTS2, n = 6) based on single-strand conformation polymorphism analysis and sequencing. Whereas exercise-related cardiac events dominate the clinical picture of LQTS1patients, auditory stimuli as a trigger for arrhythmic events were only seen in LQTS2patients.
Conclusions
Arrhythmic events triggered by auditory stimuli may differentiate LQTS2from LQTS1patients.
jacc.org