Atrial Standstill in the Pediatric Population

JACC: Clinical Electrophysiology - Tập 9 - Trang 57-69 - 2023
Taylor S. Howard1, David Y. Chiang2, Scott R. Ceresnak3, Virginie Beausejour Ladouceur4, Robert D. Whitehill5, Richard J. Czosek6, Timothy K. Knilans6, Agnethe M. Ahnfeldt7, Malene Lando Borresen7, Edgar Jaeggi4, Sharmila Udupa8, Robert Gow8, Jeremy P. Moore9,10, Roberto G. Galloti11, Doug Y. Mah12, Jeffrey J. Kim1, Santiago O. Valdes1, Dianna M. Milewicz13, Christina Y. Miyake1,14
1Department of Pediatrics, Division of Pediatric Cardiology, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas, USA
2Department of Medicine, Division of Cardiovascular Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA
3Department of Pediatrics, Division of Pediatric Cardiology, Stanford University, Lucille Packard Children’s Hospital, Palo Alto, California, USA
4Department of Pediatrics, Division of Pediatric Cardiology, University of Toronto, The Hospital for Sick Children, Toronto, Ontario Canada
5Department of Pediatrics, Division of Pediatric Cardiology, Emory University, Children’s Hospital of Atlanta, Atlanta, Georgia, USA
6Department of Pediatrics, Division of Pediatric Cardiology, University of Cincinnati, Cincinnati Children’s Hospital, Cincinnati, Ohio, USA
7Department of Pediatrics, Copenhagen University Hospital Hvidovre, Hvidovre, Denmark
8Department of Pediatrics, Division of Pediatric Cardiology, University of Ottawa, Children’s Hospital of Eastern Ontario, Ottawa, Ontario Canada
9Department of Pediatrics, Division of Pediatric Cardiology, UCLA Medical Center, Los Angeles, California, USA
10Ahmanson/UCLA Congenital Heart Disease Center, Los Angeles, California, USA
11Department of Pediatrics, Division of Pediatric Cardiology, University of California Los Angeles, UCLA Mattel Children’s Hospital, Los Angeles, California, USA
12Department of Pediatrics, Division of Pediatric Cardiology, Harvard Medical School, Boston Children’s Hospital, Boston, Massachusetts, USA
13Department of Internal Medicine, McGovern Medical School, University of Texas Health Center at Houston, Houston, Texas, USA
14Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA

Tài liệu tham khảo

Chavez, 1946, About an extraordinary case of permanent atrial palsy with Keith and Flack node degeneration, Arch Inst Cardiol Mex, 16, 159 Talwar, 1991, Persistent atrial standstill—clinical, electrophysiological, and morphological study, Pacing Clin Electrophysiol, 14, 1274, 10.1111/j.1540-8159.1991.tb02867.x Woolliscroft, 1982, Permanent atrial standstill: the clinical spectrum, Am J Cardiol, 49, 2037, 10.1016/0002-9149(82)90226-0 Rosen, 1971, Transient and persistent atrial standstill with His bundle lesions. Electrophysiologic and pathologic correlations, Circulation, 44, 220, 10.1161/01.CIR.44.2.220 Lopez, 2011, Homozygous mutation in SCN5A associated with atrial quiescence, recalcitrant arrhythmias, and poor capture thresholds, Heart Rhythm, 8, 471, 10.1016/j.hrthm.2010.10.014 Makita, 2005, Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms, Heart Rhythm, 2, 1128, 10.1016/j.hrthm.2005.06.032 Baskar, 2014, Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease, J Pediatr, 165, 1050, 10.1016/j.jpeds.2014.07.036 Lehmann, 2018, Long-term follow-up of permanent atrial standstill in a German family with mutation in the SCN5A gene, Heart Case Rep, 4, 356 Ahnfeldt, 2019 Wang, 2016, A novel NaV1.5 voltage sensor mutation associated with severe atrial and ventricular arrhythmias, J Mol Cell Cardiol, 92, 52, 10.1016/j.yjmcc.2016.01.014 Benson, 2003, Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A), J Clin Invest, 112, 1019, 10.1172/JCI200318062 Jaeggi, 2009, Atrial standstill associated with loss of atrial myocytes: a rare cause of fetal bradyarrhythmia, Heart Rhythm, 6, 1370, 10.1016/j.hrthm.2009.04.026 Chiang, 2015, Loss-of-function SCN5A mutations associated with sinus node dysfunction, atrial arrhythmias, and poor pacemaker capture, Circ Arrhythm Electrophysiol, 8, 1105, 10.1161/CIRCEP.115.003098 Li, 2018, SCN5A variants: association with cardiac disorders, Front Physiol, 9, 1 Remme, 2008, SCN5A overlap syndromes: no end to disease complexity?, Europace, 10, 1253, 10.1093/europace/eun267 Wilde, 2018, Clinical spectrum of SCN5A Mutations: long QT syndrome, Brugada syndrome, and cardiomyopathy, J Am Coll Cardiol EP, 4, 569 Bellmann, 2016, Atrial standstill in sinus node disease due to extensive atrial fibrosis: impact on dual chamber pacemaker implantation, Europace, 18, 238, 10.1093/europace/euv098 Samani, 2009, A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness, Heart Rhythm, 6, 1318, 10.1016/j.hrthm.2009.05.016 Switzer, 2017, A variant of Brugada syndrome, Baylor Univ Med Cent Proc, 30, 62, 10.1080/08998280.2017.11929530 Schmitt, 2010, Mutation in Nav1.5 associated with Brugada syndrome - a mutational hotspot?, Biophys J, 98, 311a, 10.1016/j.bpj.2009.12.1690 Rook, 1999, Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome, Cardiovasc Res, 44, 507, 10.1016/S0008-6363(99)00350-8 Kroncke, 2018, SCN5A (NaV1.5) variant functional perturbation and clinical presentation: variants of a certain significance, Circ Genomic Precis Med, 11, 10.1161/CIRCGEN.118.002095 Kroncke, 2020, A Bayesian method to estimate variant-induced disease penetrance, PLoS Genet, 16, 10.1371/journal.pgen.1008862