A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions
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| Published in | HeartRhythm case reports Vol. 8; no. 1; pp. 54 - 59 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Elsevier Inc
01.01.2022
Elsevier |
| Subjects | |
| Online Access | Get full text |
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| Author | Gao, Xiaozhi Giudicessi, John R. Tester, David J. Zhou, Wei Ye, Dan Ackerman, Michael J. |
|---|---|
| Author_xml | – sequence: 1 givenname: Xiaozhi surname: Gao fullname: Gao, Xiaozhi organization: Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology and the Windland Smith Rice Genetic Heart Rhythm Clinic), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota – sequence: 2 givenname: Dan surname: Ye fullname: Ye, Dan organization: Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology and the Windland Smith Rice Genetic Heart Rhythm Clinic), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota – sequence: 3 givenname: Wei surname: Zhou fullname: Zhou, Wei organization: Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology and the Windland Smith Rice Genetic Heart Rhythm Clinic), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota – sequence: 4 givenname: David J. surname: Tester fullname: Tester, David J. organization: Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology and the Windland Smith Rice Genetic Heart Rhythm Clinic), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota – sequence: 5 givenname: Michael J. surname: Ackerman fullname: Ackerman, Michael J. organization: Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology and the Windland Smith Rice Genetic Heart Rhythm Clinic), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota – sequence: 6 givenname: John R. surname: Giudicessi fullname: Giudicessi, John R. email: giudicessi.john@mayo.edu organization: Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology and the Windland Smith Rice Genetic Heart Rhythm Clinic), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota |
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| Cites_doi | 10.1016/j.ijcard.2017.01.113 10.1016/j.hrcr.2018.05.010 10.1016/j.jacep.2018.03.006 10.1161/CIRCULATIONAHA.120.053033 10.1016/j.jacc.2012.02.052 10.1093/europace/euz337 10.1016/j.jacc.2012.05.050 10.1016/j.ijcard.2017.11.095 10.1016/j.hrthm.2019.05.017 10.1016/j.hrthm.2020.05.019 10.1016/j.hrcr.2018.11.019 10.1016/j.trsl.2012.08.005 10.1016/j.jacc.2015.04.062 10.1002/humu.23981 10.1016/j.hrthm.2014.04.042 |
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| Keywords | Channelopathies SCN5A Flecainide Sudden cardiac death MEPPC |
| Language | English |
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| References | Doisne, Waldmann, Redheuil (bib3) 2020; 41 Calloe, Broendberg, Christensen (bib7) 2018; 257 Wilde, Amin (bib1) 2018; 4 Jordan, Peterson, Ai (bib5) 2021; 144 Lieve, Verkerk, Podliesna (bib2) 2017; 236 Barake, Giudicessi, Asirvatham, Ackerman (bib12) 2020; 17 Laurent, Saal, Amarouch (bib6) 2012; 60 Ter Bekke, David, Krapels, Crijns, Volders (bib11) 2018; 4 Stutzman, Ye, Tester, Giudicessi, Ackerman (bib14) 2019; 5 Daniel, Yang, Kroncke, Hall, Stroud, Roden (bib8) 2019; 16 Giudicessi, Ackerman (bib4) 2013; 161 Giudicessi, Ye, Stutzman, Zhou, Tester, Ackerman (bib13) 2020; 22 Mann, Castro, Ohanian (bib9) 2012; 60 Beckermann, McLeod, Murday, Potet, George (bib10) 2014; 11 Dukes, Dewland, Vittinghoff (bib15) 2015; 66 Lieve (10.1016/j.hrcr.2021.11.002_bib2) 2017; 236 Beckermann (10.1016/j.hrcr.2021.11.002_bib10) 2014; 11 Doisne (10.1016/j.hrcr.2021.11.002_bib3) 2020; 41 Giudicessi (10.1016/j.hrcr.2021.11.002_bib4) 2013; 161 Dukes (10.1016/j.hrcr.2021.11.002_bib15) 2015; 66 Laurent (10.1016/j.hrcr.2021.11.002_bib6) 2012; 60 Ter Bekke (10.1016/j.hrcr.2021.11.002_bib11) 2018; 4 Daniel (10.1016/j.hrcr.2021.11.002_bib8) 2019; 16 Wilde (10.1016/j.hrcr.2021.11.002_bib1) 2018; 4 Barake (10.1016/j.hrcr.2021.11.002_bib12) 2020; 17 Giudicessi (10.1016/j.hrcr.2021.11.002_bib13) 2020; 22 Mann (10.1016/j.hrcr.2021.11.002_bib9) 2012; 60 Stutzman (10.1016/j.hrcr.2021.11.002_bib14) 2019; 5 Jordan (10.1016/j.hrcr.2021.11.002_bib5) 2021; 144 Calloe (10.1016/j.hrcr.2021.11.002_bib7) 2018; 257 |
| References_xml | – volume: 11 start-page: 1446 year: 2014 end-page: 1453 ident: bib10 article-title: Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy publication-title: Heart Rhythm contributor: fullname: George – volume: 257 start-page: 160 year: 2018 end-page: 167 ident: bib7 article-title: Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Na(v)1.5 gain-of-function mutation (G213D) publication-title: Int J Cardiol contributor: fullname: Christensen – volume: 22 start-page: 622 year: 2020 end-page: 631 ident: bib13 article-title: Prevalence and electrophysiological phenotype of rare SCN5A genetic variants identified in unexplained sudden cardiac arrest survivors publication-title: Europace contributor: fullname: Ackerman – volume: 161 start-page: 1 year: 2013 end-page: 14 ident: bib4 article-title: Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes publication-title: Transl Res contributor: fullname: Ackerman – volume: 144 start-page: 7 year: 2021 end-page: 19 ident: bib5 article-title: Evidence-based assessment of genes in dilated cardiomyopathy publication-title: Circulation contributor: fullname: Ai – volume: 60 start-page: 144 year: 2012 end-page: 156 ident: bib6 article-title: Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy publication-title: J Am Coll Cardiol contributor: fullname: Amarouch – volume: 16 start-page: 1676 year: 2019 end-page: 1685 ident: bib8 article-title: SCN5A variant R222Q generated abnormal changes in cardiac sodium current and action potentials in murine myocytes and Purkinje cells publication-title: Heart Rhythm contributor: fullname: Roden – volume: 5 start-page: 163 year: 2019 end-page: 168 ident: bib14 article-title: Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication publication-title: HeartRhythm Case Rep contributor: fullname: Ackerman – volume: 4 start-page: 429 year: 2018 end-page: 433 ident: bib11 article-title: Beauty and the beat: a complicated case of multifocal ectopic Purkinje-related premature contractions publication-title: HeartRhythm Case Rep contributor: fullname: Volders – volume: 66 start-page: 101 year: 2015 end-page: 109 ident: bib15 article-title: Ventricular ectopy as a predictor of heart failure and death publication-title: J Am Coll Cardiol contributor: fullname: Vittinghoff – volume: 17 start-page: 1768 year: 2020 end-page: 1776 ident: bib12 article-title: Purkinje system hyperexcitability and ventricular arrhythmia risk in type 3 long QT syndrome publication-title: Heart Rhythm contributor: fullname: Ackerman – volume: 4 start-page: 569 year: 2018 end-page: 579 ident: bib1 article-title: Clinical spectrum of SCN5A mutations: long QT syndrome, Brugada syndrome, and cardiomyopathy publication-title: JACC Clin Electrophysiol contributor: fullname: Amin – volume: 41 start-page: 850 year: 2020 end-page: 859 ident: bib3 article-title: A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions publication-title: Hum Mutat contributor: fullname: Redheuil – volume: 60 start-page: 1566 year: 2012 end-page: 1573 ident: bib9 article-title: R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy publication-title: J Am Coll Cardiol contributor: fullname: Ohanian – volume: 236 start-page: 187 year: 2017 end-page: 193 ident: bib2 article-title: Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation publication-title: Int J Cardiol contributor: fullname: Podliesna – volume: 236 start-page: 187 year: 2017 ident: 10.1016/j.hrcr.2021.11.002_bib2 article-title: Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation publication-title: Int J Cardiol doi: 10.1016/j.ijcard.2017.01.113 contributor: fullname: Lieve – volume: 4 start-page: 429 year: 2018 ident: 10.1016/j.hrcr.2021.11.002_bib11 article-title: Beauty and the beat: a complicated case of multifocal ectopic Purkinje-related premature contractions publication-title: HeartRhythm Case Rep doi: 10.1016/j.hrcr.2018.05.010 contributor: fullname: Ter Bekke – volume: 4 start-page: 569 year: 2018 ident: 10.1016/j.hrcr.2021.11.002_bib1 article-title: Clinical spectrum of SCN5A mutations: long QT syndrome, Brugada syndrome, and cardiomyopathy publication-title: JACC Clin Electrophysiol doi: 10.1016/j.jacep.2018.03.006 contributor: fullname: Wilde – volume: 144 start-page: 7 year: 2021 ident: 10.1016/j.hrcr.2021.11.002_bib5 article-title: Evidence-based assessment of genes in dilated cardiomyopathy publication-title: Circulation doi: 10.1161/CIRCULATIONAHA.120.053033 contributor: fullname: Jordan – volume: 60 start-page: 144 year: 2012 ident: 10.1016/j.hrcr.2021.11.002_bib6 article-title: Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy publication-title: J Am Coll Cardiol doi: 10.1016/j.jacc.2012.02.052 contributor: fullname: Laurent – volume: 22 start-page: 622 year: 2020 ident: 10.1016/j.hrcr.2021.11.002_bib13 article-title: Prevalence and electrophysiological phenotype of rare SCN5A genetic variants identified in unexplained sudden cardiac arrest survivors publication-title: Europace doi: 10.1093/europace/euz337 contributor: fullname: Giudicessi – volume: 60 start-page: 1566 year: 2012 ident: 10.1016/j.hrcr.2021.11.002_bib9 article-title: R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy publication-title: J Am Coll Cardiol doi: 10.1016/j.jacc.2012.05.050 contributor: fullname: Mann – volume: 257 start-page: 160 year: 2018 ident: 10.1016/j.hrcr.2021.11.002_bib7 article-title: Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Na(v)1.5 gain-of-function mutation (G213D) publication-title: Int J Cardiol doi: 10.1016/j.ijcard.2017.11.095 contributor: fullname: Calloe – volume: 16 start-page: 1676 year: 2019 ident: 10.1016/j.hrcr.2021.11.002_bib8 article-title: SCN5A variant R222Q generated abnormal changes in cardiac sodium current and action potentials in murine myocytes and Purkinje cells publication-title: Heart Rhythm doi: 10.1016/j.hrthm.2019.05.017 contributor: fullname: Daniel – volume: 17 start-page: 1768 year: 2020 ident: 10.1016/j.hrcr.2021.11.002_bib12 article-title: Purkinje system hyperexcitability and ventricular arrhythmia risk in type 3 long QT syndrome publication-title: Heart Rhythm doi: 10.1016/j.hrthm.2020.05.019 contributor: fullname: Barake – volume: 5 start-page: 163 year: 2019 ident: 10.1016/j.hrcr.2021.11.002_bib14 article-title: Is variant pathogenicity in the eye of the beholder? A case of unexplained sudden cardiac arrest highlights the potentially dangerous role of historical rare variant compendia in SCN5A rare variant adjudication publication-title: HeartRhythm Case Rep doi: 10.1016/j.hrcr.2018.11.019 contributor: fullname: Stutzman – volume: 161 start-page: 1 year: 2013 ident: 10.1016/j.hrcr.2021.11.002_bib4 article-title: Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes publication-title: Transl Res doi: 10.1016/j.trsl.2012.08.005 contributor: fullname: Giudicessi – volume: 66 start-page: 101 year: 2015 ident: 10.1016/j.hrcr.2021.11.002_bib15 article-title: Ventricular ectopy as a predictor of heart failure and death publication-title: J Am Coll Cardiol doi: 10.1016/j.jacc.2015.04.062 contributor: fullname: Dukes – volume: 41 start-page: 850 year: 2020 ident: 10.1016/j.hrcr.2021.11.002_bib3 article-title: A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions publication-title: Hum Mutat doi: 10.1002/humu.23981 contributor: fullname: Doisne – volume: 11 start-page: 1446 year: 2014 ident: 10.1016/j.hrcr.2021.11.002_bib10 article-title: Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy publication-title: Heart Rhythm doi: 10.1016/j.hrthm.2014.04.042 contributor: fullname: Beckermann |
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| Title | A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions |
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