A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy

Research output: Contribution to journalJournal articlepeer-review

Standard

A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy. / Boddum, Kim; Saljic, Arnela; Jespersen, Thomas; Christensen, Alex Horby.

In: Cardiology, Vol. 140, No. 1, 2018, p. 8-13.

Research output: Contribution to journalJournal articlepeer-review

Harvard

Boddum, K, Saljic, A, Jespersen, T & Christensen, AH 2018, 'A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy', Cardiology, vol. 140, no. 1, pp. 8-13. https://doi.org/10.1159/000487475

APA

Boddum, K., Saljic, A., Jespersen, T., & Christensen, A. H. (2018). A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy. Cardiology, 140(1), 8-13. https://doi.org/10.1159/000487475

Vancouver

Boddum K, Saljic A, Jespersen T, Christensen AH. A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy. Cardiology. 2018;140(1):8-13. https://doi.org/10.1159/000487475

Author

Boddum, Kim ; Saljic, Arnela ; Jespersen, Thomas ; Christensen, Alex Horby. / A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy. In: Cardiology. 2018 ; Vol. 140, No. 1. pp. 8-13.

Bibtex

@article{8902c00b6cbb4b2b8d814ea93bb62dd8,
title = "A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy",
abstract = "A variety of life-threating arrhythmias are caused by mutations in the cardiac voltage-gated sodium channel encoded by the SCN5A gene. In this study, we report a novel loss-of-function SCN5A variant, p.lle 343Val (c.4027A>G), identified in a 42-year-old proband who presented with an unusual ECG with abnormal repolarization with biphasic T-waves in anteroseptal leads, persistent atrial fibrillation (AF), intermittent left bundle branch block (LBBB), and reversible cardiomyopathy. The patient did not meet the diagnostic criteria for Brugada syndrome, long QT syndrome, or any other known SCN5A-associated phenotype. Characterization of the biophysical properties of the variant by in vitro patch clamp experiments revealed a reduced Na+ current with no effect on the inactivation kinetics of the channel. This lossof-function of Na+ current could explain the intermittent LBBB as well as the AF. In conclusion, we describe a unique combination of electrical and structural abnormalities associated with a novel SCN5A variant. Our findings broaden the spectrum of cardiac phenotypes associated with SCN5A channelopathy, underlining the complex clinical manifestations of genetic variations within this gene. (C) 2018 S. Karger AG, Basel",
keywords = "SCN5A, Atrial fibrillation, Cardiomyopathy",
author = "Kim Boddum and Arnela Saljic and Thomas Jespersen and Christensen, {Alex Horby}",
year = "2018",
doi = "10.1159/000487475",
language = "English",
volume = "140",
pages = "8--13",
journal = "Cardiologia",
issn = "0008-6312",
publisher = "S Karger AG",
number = "1",

}

RIS

TY - JOUR

T1 - A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy

AU - Boddum, Kim

AU - Saljic, Arnela

AU - Jespersen, Thomas

AU - Christensen, Alex Horby

PY - 2018

Y1 - 2018

N2 - A variety of life-threating arrhythmias are caused by mutations in the cardiac voltage-gated sodium channel encoded by the SCN5A gene. In this study, we report a novel loss-of-function SCN5A variant, p.lle 343Val (c.4027A>G), identified in a 42-year-old proband who presented with an unusual ECG with abnormal repolarization with biphasic T-waves in anteroseptal leads, persistent atrial fibrillation (AF), intermittent left bundle branch block (LBBB), and reversible cardiomyopathy. The patient did not meet the diagnostic criteria for Brugada syndrome, long QT syndrome, or any other known SCN5A-associated phenotype. Characterization of the biophysical properties of the variant by in vitro patch clamp experiments revealed a reduced Na+ current with no effect on the inactivation kinetics of the channel. This lossof-function of Na+ current could explain the intermittent LBBB as well as the AF. In conclusion, we describe a unique combination of electrical and structural abnormalities associated with a novel SCN5A variant. Our findings broaden the spectrum of cardiac phenotypes associated with SCN5A channelopathy, underlining the complex clinical manifestations of genetic variations within this gene. (C) 2018 S. Karger AG, Basel

AB - A variety of life-threating arrhythmias are caused by mutations in the cardiac voltage-gated sodium channel encoded by the SCN5A gene. In this study, we report a novel loss-of-function SCN5A variant, p.lle 343Val (c.4027A>G), identified in a 42-year-old proband who presented with an unusual ECG with abnormal repolarization with biphasic T-waves in anteroseptal leads, persistent atrial fibrillation (AF), intermittent left bundle branch block (LBBB), and reversible cardiomyopathy. The patient did not meet the diagnostic criteria for Brugada syndrome, long QT syndrome, or any other known SCN5A-associated phenotype. Characterization of the biophysical properties of the variant by in vitro patch clamp experiments revealed a reduced Na+ current with no effect on the inactivation kinetics of the channel. This lossof-function of Na+ current could explain the intermittent LBBB as well as the AF. In conclusion, we describe a unique combination of electrical and structural abnormalities associated with a novel SCN5A variant. Our findings broaden the spectrum of cardiac phenotypes associated with SCN5A channelopathy, underlining the complex clinical manifestations of genetic variations within this gene. (C) 2018 S. Karger AG, Basel

KW - SCN5A

KW - Atrial fibrillation

KW - Cardiomyopathy

U2 - 10.1159/000487475

DO - 10.1159/000487475

M3 - Journal article

C2 - 29635243

VL - 140

SP - 8

EP - 13

JO - Cardiologia

JF - Cardiologia

SN - 0008-6312

IS - 1

ER -

ID: 213164670