A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation

Cardiovascular Research
Dagmar I KellerMohamed Chahine

Abstract

Brugada syndrome (BS) is an inherited electrical cardiac disorder characterized by right bundle branch block pattern and ST segment elevation in leads V1 to V3 on surface electrocardiogram that can potentially lead to malignant ventricular tachycardia and sudden cardiac death. About 20% of patients have mutations in the only so far identified gene, SCN5A, which encodes the alpha-subunit of the human cardiac voltage-dependent sodium channel (hNa(v)1.5). Fever has been shown to unmask or trigger the BS phenotype, but the associated molecular and the biophysical mechanisms are still poorly understood. We report on the identification and biophysical characterization of a novel heterozygous missense mutation in SCN5A, F1344S, in a 42-year-old male patient showing the BS phenotype leading to ventricular fibrillation during fever. The mutation was reproduced in vitro using site-directed mutagenesis and characterized using the patch clamp technique in the whole-cell configuration. The biophysical characterization of the channels carrying the F1344S mutation revealed a 10 mV mid-point shift of the G/V curve toward more positive voltages during activation. Raising the temperature to 40.5 degrees C further shifted the mid-point activation...Continue Reading

Citations

Nov 2, 2012·Proceedings of the National Academy of Sciences of the United States of America·Catharina G FaberStephen G Waxman
Apr 12, 2011·European Heart Journal·Marina Cerrone, Silvia G Priori
Jun 24, 2011·Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology·Antonio RavieleUNKNOWN European Heart Rhythm Association
Jul 16, 2010·Dermatology : International Journal for Clinical and Investigative Dermatology·Mazen KurbanAngela M Christiano
Jun 14, 2008·The Journal of Clinical Investigation·Ahmad S AminArthur A M Wilde
Jan 3, 2013·The Journal of Clinical Investigation·Alfred L George
Aug 3, 2013·Biomarkers in Medicine·Anthony LiElijah R Behr
Jan 11, 2013·ISRN Cardiology·Ronald Wilders
Dec 3, 2014·Revista Portuguesa De Cardiologia : Orgão Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology·Juliana MartinsAdelino Correia
Apr 12, 2014·Current Opinion in Pharmacology·Alfred L George
Sep 11, 2012·La Presse médicale·Youssef Ben AmeurMohamed Rachid Boujnah
Dec 30, 2015·Progress in Biophysics and Molecular Biology·Colin H PetersPeter C Ruben
Sep 6, 2015·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Arnon AdlerSami Viskin
Aug 4, 2009·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Kaveh SamaniMatteo Vatta
May 1, 2015·Circulation Journal : Official Journal of the Japanese Circulation Society·Tadashi NakajimaMasahiko Kurabayashi
Sep 11, 2009·Annals of Neurology·Evan A ThomasSteven Petrou
Jul 17, 2009·Human Mutation·Paula L HedleyMichael Christiansen
Oct 14, 2006·Pacing and Clinical Electrophysiology : PACE·Charles Antzelevitch
Sep 28, 2007·Pacing and Clinical Electrophysiology : PACE·Darko KranjcecHugues Abriel
May 17, 2007·Journal of Cardiovascular Electrophysiology·Cecile TerrenoireRobert S Kass
Jul 2, 2015·The Journal of Physiology·Mena AbdelsayedPeter C Ruben
Mar 31, 2015·The American Journal of Emergency Medicine·Kazuhiko OmoriYouichi Yanagawa
May 31, 2012·Channels·Csilla Egri, Peter C Ruben
Oct 30, 2010·Journal of the American College of Cardiology·Sami Viskin, Raphael Rosso
Nov 11, 2009·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Hiroshi MoritaJiashin Wu
Jan 11, 2011·International Journal of Cardiology·Eva C KlaverRonald Wilders
Nov 26, 2008·Progress in Biophysics and Molecular Biology·Thomas Zimmer, Ralf Surber
Feb 7, 2012·Journal of Electrocardiology·William F McIntyreAdrian Baranchuk
Feb 5, 2013·Biochemical and Biophysical Research Communications·Mark EstacionStephen G Waxman
Jun 29, 2007·Human Molecular Genetics·Sultan AhmadJohannes J Krupp
Jan 24, 2007·Molecular Pain·Chongyang HanStephen G Waxman
May 3, 2008·Internal Medicine·Tetsuji ShinoharaHironobu Yoshimatsu
Nov 21, 2019·Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc·Gretje RoterbergMartin Borggrefe
Jul 14, 2019·BMJ Case Reports·Hassan AbbasGanesh Gajanan
Jan 9, 2021·Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc·Donghua ZhaoShuyuan Wang
May 1, 2021·International Journal of Molecular Sciences·Tadashi NakajimaYoshiaki Kaneko
Apr 11, 2007·Pediatrics·Jonathan Robert SkinnerMark Ian Rees

❮ 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.