Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1).
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 LQTS1 patients, auditory stimuli as a trigger for arrhythmic events were only seen in LQTS2 patients.


CONCLUSIONS
Arrhythmic events triggered by auditory stimuli may differentiate LQTS2 from LQTS1 patients.
Wilde
A A
AA
Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands.
Jongbloed
R J
RJ
Doevendans
P A
PA
Düren
D R
DR
Hauer
R N
RN
van Langen
I M
IM
van Tintelen
J P
JP
Smeets
H J
HJ
Meyer
H
H
Geelen
J L
JL
D000161:Acoustic Stimulation; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D027682:Cation Transport Proteins; D004247:DNA / Q000032:analysis; D015342:DNA Probes / Q000737:chemistry; D004268:DNA-Binding Proteins; D016757:Death, Sudden, Cardiac / Q000209:etiology; D018450:Disease Progression; D000072237:ERG1 Potassium Channel; D004562:Electrocardiography; D051638:Ether-A-Go-Go Potassium Channels; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006339:Heart Rate; D006801:Humans; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG