Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT Syndrome

JACC: Clinical Electrophysiology - Tập 6 - Trang 1561-1570 - 2020
Jeremy P. Moore1,2, Roberto G. Gallotti1,2, Kevin M. Shannon1,2, J. Martijn Bos3,4,5, Elham Sadeghi6, Janette F. Strasburger6, Ronald T. Wakai7, Hitoshi Horigome8, Sally-Ann Clur9, Allison C. Hill10, Maully J. Shah11, Shashank Behere11, Georgia Sarquella-Brugada12,13, Richard Czosek14, Susan P. Etheridge15, Peter Fischbach16, Prince J. Kannankeril17, Kara Motonaga18, Andrew P. Landstrom19,20, Matthew Williams21
1Division of Pediatric Cardiology, University of California Los Angeles (UCLA) Medical Center, Los Angeles, California, USA
2UCLA Cardiac Arrhythmia Center and Ahmanson Adult Congenital Heart Disease Center, UCLA Health System, Los Angeles, California, USA
3Department of Cardiovascular Medicine, Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota, USA
4Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA
5Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, USA
6Department of Pediatrics, Medical College of Wisconsin, Herma Heart Institute, Milwaukee, Wisconsin, USA
7Biomagnetism Laboratory, Department of Medical Physics, University of Wisconsin, Madison, Wisconsin, USA
8Department of Pediatrics, Tsukuba University, Ibaraki, Japan
9Department of Pediatric Cardiology, Emma Children’s Hospital, Amsterdam University Medical Center, Amsterdam, the Netherlands
10Division of Cardiology, Children's Hospital Los Angeles, Los Angeles, California, USA
11Division of Cardiology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
12Arrhythmia, Inherited Cardiac Diseases Unit, Hospital Sant Joan de Déu, Barcelona, Spain
13Medical Sciences Department, School of Medicine, University of Girona, Girona, Spain
14The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio USA
15Primary Children’s Hospital, University of Utah School of Medicine, Salt Lake City, Utah, USA
16Division of Pediatric Cardiology, Children's Healthcare of Atlanta, Emory University, Atlanta, Georgia, USA
17Monroe Carrell Children’s Hospital, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
18Division of Pediatric Cardiology, Stanford University, Palo Alto, California, USA
19Department of Pediatrics, Division of Cardiology, Duke University School of Medicine, Durham, North Carolina, USA
20Department of Cell Biology, Duke University School of Medicine, Durham, North Carolina, USA
21Division of Cardiology, Rady Children’s Hospital, University of California San Diego, San Diego, California, USA

Tài liệu tham khảo

Schwartz, 2009, Prevalence of the congenital long-QT syndrome, Circulation, 120, 1761, 10.1161/CIRCULATIONAHA.109.863209 Crotti, 2013, Long QT syndrome-associated mutations in intrauterine fetal death, JAMA, 309, 1473, 10.1001/jama.2013.3219 Miller, 2004, Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome, Circulation, 109, 3029, 10.1161/01.CIR.0000130666.81539.9E Arnestad, 2007, Prevalence of long-QT syndrome gene variants in sudden infant death syndrome, Circulation, 115, 361, 10.1161/CIRCULATIONAHA.106.658021 Ackerman, 2001, Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome, JAMA, 286, 2264, 10.1001/jama.286.18.2264 Romano, 1965, Congenital cardiac arrhythmia, Lancet, 1, 658, 10.1016/S0140-6736(65)91761-7 Garson, 1993, The long QT syndrome in children: an international study of 287 patients, Circulation, 87, 1866, 10.1161/01.CIR.87.6.1866 Gorgels, 1998, The long QT syndrome with impaired atrioventricular conduction: a malignant variant in infants, J Cardiovasc Electrophysiol, 9, 1225, 10.1111/j.1540-8167.1998.tb00096.x Saoudi, 1991, Prolonged QT, atrioventricular block, and sudden death in the newborn: an electrophysiologic evaluation, Eur Heart J, 12, 838, 10.1093/eurheartj/12.7.838 Trippel, 1995, Infants with long-QT syndrome and 2:1 atrioventricular block, Am Heart J, 130, 1130, 10.1016/0002-8703(95)90222-8 Lupoglazoff, 2004, Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations, J Am Coll Cardiol, 43, 826, 10.1016/j.jacc.2003.09.049 Aziz, 2010, Congenital long QT syndrome and 2:1 atrioventricular block: an optimistic outcome in the current era, Heart Rhythm, 7, 781, 10.1016/j.hrthm.2010.02.035 Blais, 2017, The diagnosis and management of long QT syndrome based on fetal echocardiography, HeartRhythm Case Rep, 3, 407, 10.1016/j.hrcr.2017.04.007 Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, 17, 405, 10.1038/gim.2015.30 Fisher, 2014, ILAE official report: a practical clinical definition of epilepsy, Epilepsia, 55, 475, 10.1111/epi.12550 Horigome, 2010, Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan, Circ Arrhythm Electrophysiol, 3, 10, 10.1161/CIRCEP.109.882159 Cuneo, 2013, Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome, Circ Arrhythm Electrophysiol, 6, 946, 10.1161/CIRCEP.113.000618 Schwartz, 2009, All LQT3 patients need an ICD: true or false?, Heart Rhythm, 6, 113, 10.1016/j.hrthm.2008.10.017 Strand, 2020, Complex and novel arrhythmias precede stillbirth in fetuses with de novo long QT syndrome, Circ Arrhythm Electrophysiol, 13, 10.1161/CIRCEP.119.008082 Rossano, 2017, The Registry of the International Society for Heart and Lung Transplantation: twentieth pediatric heart transplantation report—2017; focus theme: allograft ischemic time, J Heart Lung Transplant, 36, 1060, 10.1016/j.healun.2017.07.018 Crotti, 2019, Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry, Eur Heart J, 40, 2964, 10.1093/eurheartj/ehz311
Thông tin
Thông tin xuất bản

JACC: Clinical Electrophysiology

Tập 6

1561-1570

Thông tin tác giả