Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition

Heart Rhythm : the Official Journal of the Heart Rhythm Society
Philippe ChevalierClaire Rodriguez-Lafrasse

Abstract

The prevalence of genetic risk factors has not been systematically evaluated in the setting of complete atriventricular (AV) block complicated by long QT syndrome (LQTS). This study was performed to determine to what extent acquired LQTS in the context of AV block has a genetic substrate. Among 420 recipients of pacemakers implanted over a 3-year period, we identified retrospectively 29 patients with complete AV block and a QT interval >600 ms in duration. A second study group included 22 randomly selected patients who had AV block and a QT interval <600 ms. Normal controls were 100 consecutive individuals without medical history. Genetic studies screening for HERG, KCNQ1 KCNE1, KCNE2, and SCN5A mutations were performed. We identified four mutations on genes encoding potassium channels in five patients with AV block and acquired LQTS. These mutations were not found among patients with AV block and a QT interval <600 ms in duration or in healthy volunteers. Functional expression of three HERG mutations (R328C, R696C, and R1047L) had a dominant negative effect on wild-type I(Kr). One KCNE2 mutation (R77W) identified in a patient treated with flecainide did not alter I(Kr). This study showed that complete AV block complicated by L...Continue Reading

References

Feb 1, 1997·Pacing and Clinical Electrophysiology : PACE·P GeelenP Brugada
May 30, 1998·Pacing and Clinical Electrophysiology : PACE·D M Roden
May 9, 2003·The New England Journal of Medicine·G Michael Vincent

❮ Previous
Next ❯

Citations

Feb 13, 2010·Pharmacogenetics and Genomics·Connie OshiroRuss B Altman
Oct 27, 2010·Circulation Journal : Official Journal of the Japanese Circulation Society·Yuko OkaMinoru Horie
Nov 20, 2010·Circulation Journal : Official Journal of the Japanese Circulation Society·Mitsuhiro Nishizaki, Masayasu Hiraoka
Aug 13, 2013·PloS One·Christian TrolleClaus H Gravholt
Nov 13, 2013·Cardiovascular Journal of Africa·Paula L HedleyValerie A Corfield
Feb 25, 2009·Expert Opinion on Drug Safety·Jean-Luc Pasquié, Sylvain Richard
Sep 8, 2010·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Elena BurashnikovCharles Antzelevitch
May 1, 2015·Circulation Journal : Official Journal of the Japanese Circulation Society·Tadashi NakajimaMasahiko Kurabayashi
Oct 29, 2009·Human Mutation·Paula L HedleyMichael Christiansen
Apr 4, 2012·Pacing and Clinical Electrophysiology : PACE·Mark Jonathan PerrinArieh Keren
May 31, 2013·Pacing and Clinical Electrophysiology : PACE·Piotr KuklaMarek Jastrzębski
Aug 22, 2009·Journal of the American College of Cardiology·Elizabeth S Kaufman
Nov 26, 2008·Progress in Biophysics and Molecular Biology·Mark J PerrinAdam P Hill
Dec 3, 2014·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Min Soo ChoYou-Ho Kim
Apr 14, 2010·The Canadian Journal of Cardiology·Rajesh N SubbiahAndrew D Krahn
May 24, 2016·Progress in Biophysics and Molecular Biology·C N LangK E Odening
Dec 24, 2013·Experimental Biology and Medicine·Guoliang LiChaofeng Sun
Aug 11, 2017·Circulation. Arrhythmia and Electrophysiology·Jason D RobertsMelvin M Scheinman
Oct 6, 2020·Frontiers in Neurology·Lauren E BleakleyChristopher A Reid

❮ Previous
Next ❯

Related Concepts

Related Feeds

Arrhythmia

Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Antiarrhythmic Agents: Mechanisms of Action

Understanding the mechanism of action of antiarrhythmic agents is essential in developing new medications as treatment of cardiac arrhythmias is currently limited by the reduced availability of safe and effective drugs. Discover the latest research on Antiarrhythmic Agents: Mechanism of Action here.

Bradyarrhythmias

Bradyarrhythmias are slow heart rates. Symptoms may include syncope, dizziness, fatigure, shortness of breath, and chest pains. Find the latest research on bradyarrhythmias here.

Related Papers

Proceedings of the National Academy of Sciences of the United States of America
F SestiS A Goldstein
Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte
A D C PaulussenJ Aerssens
© 2021 Meta ULC. All rights reserved