A homozygous SCN5A mutation associated with atrial standstill and sudden death

Pacing and Clinical Electrophysiology : PACE
Reina Bianca TanWilliam Coetzee

Abstract

Atrial standstill is an arrhythmogenic condition characterized by the absence of spontaneous electrical and mechanical atrial activity or in response to stimulation. There are few reported familial cases which have been associated with SCN5A mutations cosegregating with GJA5 or RYR2; however, isolated SCN5A mutations are rare. The purpose of this study was to determine the clinical and biophysical consequence of a novel SCN5A mutation identified in a family with progressive atrial standstill and sudden death. The family of a sporadic case of congenital atrial standstill underwent genetic screening. Human Embryonic Kidney 293 cells were transfected with wild-type (WT) or mutant SCN5A cDNAs. Biophysical properties were studied using whole-cell using patch clamp methods. A novel homozygous SCN5A mutation, p.V1340L, was identified in the proband and her sister. The proband had complete atrial standstill whereas the sister had partial atrial standstill. Heterozygous mutations were identified in the mother, father, and brother. All three had normal sinus rhythm and were asymptomatic. The mutant Nav1.5(V1340L) reduced Nav1.5 current density as well as showed a depolarizing shift in the voltage-dependent steady-state activation (WT: -3...Continue Reading

References

May 1, 1992·American Heart Journal·M K ShahK G Balakrishnan
Jun 1, 1982·The American Journal of Cardiology·J Woolliscroft, N Tuna
Oct 26, 1999·Cardiovascular Research·J R Balser
Jan 11, 2003·Circulation Research·W Antoinette GroenewegenArthur A M Wilde
Sep 29, 2005·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Naomasa MakitaHiroyuki Tsutsui
Apr 29, 2006·Journal of Cardiovascular Electrophysiology·Cordula M Wolf, Charles I Berul
Mar 5, 2009·Yonsei Medical Journal·So Ra ParkJin Yong Hwang
Apr 21, 2009·Nature Reviews. Cardiology·Yanfei RuanSilvia G Priori
Jul 28, 2009·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Argelia Medeiros-DomingoMichael J Ackerman
Aug 4, 2009·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Kaveh SamaniMatteo Vatta
Feb 5, 2010·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Jamie D KapplingerMichael J Ackerman

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Citations

Nov 30, 2019·Journal of Neurology, Neurosurgery, and Psychiatry·Yan GeJosemir W Sander
Sep 24, 2020·Pacing and Clinical Electrophysiology : PACE·Maarab AlkorashyZuhair N Al-Hassnan
Jan 29, 2021·Stroke; a Journal of Cerebral Circulation·Hailei LiuMinglong Chen
Nov 23, 2021·Frontiers in Pharmacology·Vyacheslav S KorkoshBoris S Zhorov

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