2004
DOI: 10.1161/01.cir.0000130409.72142.fe
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Mutation in the KCNQ1 Gene Leading to the Short QT-Interval Syndrome

Abstract: Background-The electrocardiographic short QT-interval syndrome forms a distinct clinical entity presenting with a high rate of sudden death and exceptionally short QT intervals. The disorder has recently been linked to gain-of-function mutation in KCNH2. The present study demonstrates that this disorder is genetically heterogeneous and can also be caused by mutation in the KCNQ1 gene. Methods and Results-A 70-year man presented with idiopathic ventricular fibrillation. Both immediately after the episode and mu… Show more

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Cited by 580 publications
(372 citation statements)
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“…The pinacidil model of the short-QT syndrome, although mechanistically related, is phenotypically different from the clinical syndrome caused by a gain of function of HERG (SQT1), the gene that encodes I Kr , 5 or the short-QT syndrome recently described by Bellocq and coworkers 32 and shown to be due to a gain of function in KCNQ1 (SQT2), the gene that encodes for I Ks . In these 2 syndromes, the ECG of affected individuals often manifests tall, peaked, symmetrical T waves rather than inverted T waves, as predicted by the present model involving activation of I K-ATP .…”
Section: Circulation December 14 2004mentioning
confidence: 97%
“…The pinacidil model of the short-QT syndrome, although mechanistically related, is phenotypically different from the clinical syndrome caused by a gain of function of HERG (SQT1), the gene that encodes I Kr , 5 or the short-QT syndrome recently described by Bellocq and coworkers 32 and shown to be due to a gain of function in KCNQ1 (SQT2), the gene that encodes for I Ks . In these 2 syndromes, the ECG of affected individuals often manifests tall, peaked, symmetrical T waves rather than inverted T waves, as predicted by the present model involving activation of I K-ATP .…”
Section: Circulation December 14 2004mentioning
confidence: 97%
“…10 It is possible that these abnormal repolarization dynamics are a common underlying mechanism of lthe ethal arrhythmias in the recently reported short-QT syndrome and symptomatic BS. [25][26][27] A QT interval is the electrocardiographic expression of ventricular refractoriness, and a short QT interval could, therefore, be related to ventricular vulnerability to VF. [25][26][27] …”
Section: Bradycardia-dependent Changes In the Qt Intervalmentioning
confidence: 99%
“…The association of KCNE1 with KCNQ1 produces the slowly activating current waveform relevant to repolarization, because KCNQ1 alone activates within a few milliseconds at depolarized potentials. Underscoring the importance of this complex, mutations in either subunit can cause common forms of long QT syndrome, short QT syndrome, and atrial fibrillation (6)(7)(8) by altering the gating and/or expression of the channel complex.…”
mentioning
confidence: 99%