scholarly journals A KCNQ1 Mutation Causes a High Penetrance for Familial Atrial Fibrillation

2013 ◽  
Vol 24 (5) ◽  
pp. 562-569 ◽  
Author(s):  
DANIEL C. BARTOS ◽  
JEFFREY B. ANDERSON ◽  
RACHEL BASTIAENEN ◽  
JONATHAN N. JOHNSON ◽  
MICHAEL H. GOLLOB ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
High Penetrance ◽  
Familial Atrial Fibrillation

Familial atrial rapid fibrillation associated with double mutations of SCN5A and KCNQ1

2021 ◽  
pp. 1-3
Author(s):  
Miwa Kanai ◽  
Keiko Toyohara ◽  
Morio Shoda
Keyword(s):  
Atrial Fibrillation ◽  
Paediatric Population ◽  
Familial Case ◽  
Familial Atrial Fibrillation

Abstract Familial atrial fibrillation is inherited and sporadically occurs in the paediatric population. Generally, fibrillated wavelets are reported at a frequency of approximately 6 Hz. Herein, we report a familial case presenting rapidly fibrillated wavelets at frequencies of approximately 12 to 30 Hz associated with KCNQ1 and SCN5A mutations.

Clinical profile and outcome of familial versus non-familial atrial fibrillation

2020 ◽  
Vol 314 ◽  
pp. 70-74 ◽  
Author(s):  
Mona Heidarali ◽  
Hooman Bakhshandeh ◽  
Amirfarjam Fazelifar ◽  
Majid Haghjoo
Keyword(s):  
Atrial Fibrillation ◽  
Clinical Profile ◽  
Familial Atrial Fibrillation

A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation

Heart Rhythm ◽  
2008 ◽  
Vol 5 (10) ◽  
pp. 1434-1440 ◽  
Author(s):  
Begoña Benito ◽  
Ramon Brugada ◽  
Rosa Maria Perich ◽  
Eric Lizotte ◽  
Juan Cinca ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Sodium Channel ◽  
Long Qt Syndrome ◽  
Long Qt ◽  
Familial Atrial Fibrillation ◽  
Qt Syndrome

scholarly journals Electrophysiologic and molecular mechanisms of a frameshift NPPA mutation linked with familial atrial fibrillation

2019 ◽  
Vol 132 ◽  
pp. 24-35 ◽  
Author(s):  
Ambili Menon ◽  
Liang Hong ◽  
Eleonora Savio-Galimberti ◽  
Arvind Sridhar ◽  
Seock-Won Youn ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Molecular Mechanisms ◽  
Familial Atrial Fibrillation

scholarly journals Ablation of Familial Atrial Fibrillation. Favorable Long-Term Outcome

2005 ◽  
Vol 58 (7) ◽  
pp. 878-879
Author(s):  
Antonio Hernández Madrid ◽  
Gerardo Moreno ◽  
Concepción Moro
Keyword(s):  
Atrial Fibrillation ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Familial Atrial Fibrillation

scholarly journals Familial atrial fibrillation is a genetically heterogeneous disorder

2003 ◽  
Vol 41 (12) ◽  
pp. 2185-2192 ◽  
Author(s):  
Dawood Darbar ◽  
Kathleen J Herron ◽  
Jeffrey D Ballew ◽  
Arshad Jahangir ◽  
Bernard J Gersh ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Familial Atrial Fibrillation

scholarly journals Familial Atrial Fibrillation Predicts Increased Risk of Mortality

2013 ◽  
Vol 6 (1) ◽  
pp. 10-15 ◽  
Author(s):  
Ingrid Elisabeth Christophersen ◽  
Esben Budtz-Jørgensen ◽  
Morten S. Olesen ◽  
Stig Haunsø ◽  
Kaare Christensen ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Risk Of Mortality ◽  
Increased Risk ◽  
Familial Atrial Fibrillation

scholarly journals Characterization of KCNQ1 atrial fibrillation mutations reveals distinct dependence on KCNE1

2012 ◽  
Vol 139 (2) ◽  
pp. 135-144 ◽  
Author(s):  
Priscilla J. Chan ◽  
Jeremiah D. Osteen ◽  
Dazhi Xiong ◽  
Michael S. Bohnen ◽  
Darshan Doshi ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Disulfide Bonds ◽  
Functional Dependence ◽  
Voltage Dependent ◽  
Familial Atrial Fibrillation ◽  
Membrane Spanning ◽  
Mutant Phenotypes ◽  
Inherited Mutations ◽  
Iks Channel

The IKs potassium channel, critical to control of heart electrical activity, requires assembly of α (KCNQ1) and β (KCNE1) subunits. Inherited mutations in either IKs channel subunit are associated with cardiac arrhythmia syndromes. Two mutations (S140G and V141M) that cause familial atrial fibrillation (AF) are located on adjacent residues in the first membrane-spanning domain of KCNQ1, S1. These mutations impair the deactivation process, causing channels to appear constitutively open. Previous studies suggest that both mutant phenotypes require the presence of KCNE1. Here we found that despite the proximity of these two mutations in the primary protein structure, they display different functional dependence in the presence of KCNE1. In the absence of KCNE1, the S140G mutation, but not V141M, confers a pronounced slowing of channel deactivation and a hyperpolarizing shift in voltage-dependent activation. When coexpressed with KCNE1, both mutants deactivate significantly slower than wild-type KCNQ1/KCNE1 channels. The differential dependence on KCNE1 can be correlated with the physical proximity between these positions and KCNE1 as shown by disulfide cross-linking studies: V141C forms disulfide bonds with cysteine-substituted KCNE1 residues, whereas S140C does not. These results further our understanding of the structural relationship between KCNE1 and KCNQ1 subunits in the IKs channel, and provide mechanisms for understanding the effects on channel deactivation underlying these two atrial fibrillation mutations.

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