The Role of the Epinephrine Test in the Diagnosis and Management of Children Suspected of Having Congenital Long QT Syndrome

被引：0
作者：
Sally-Ann B. Clur
Priya Chockalingam
Luc H. Filippini
Ari P. Widyanti
Marc Van Cruijsen
Nico A. Blom
Mariel Alders
Nynke Hofman
Arthur A. M. Wilde
机构：
[1] Emma Children’s Hospital,Department of Pediatric Cardiology
[2] Academic Medical Centre,Heart Failure Research Centre, Department of Cardiology
[3] The Centre for Congenital Heart Defects Amsterdam–Leiden,Department of Pediatric Cardiology
[4] Academic Medical Centre,Department of Pediatric Cardiology
[5] Juliana Children’s Hospital,Department of Clinical Genetics
[6] Leiden University Medical Centre,undefined
[7] Academic Medical Centre,undefined
来源：
Pediatric Cardiology | 2010年 / 31卷
关键词：
Long QT syndrome; Arrhythmia; Children; Diagnosis; Catecholamines; Genes; Beta-blocker therapy;
D O I：
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中图分类号：
学科分类号：
摘要：
The epinephrine test has been shown to be a powerful tool to predict the genotype of congenital long QT syndrome (LQTS). The aim of this study was to evaluate its role in the diagnosis and management of LQTS in children. The test (using the Shimizu protocol) was conducted in patients with some evidence of LQTS but in whom clinical and management decisions were challenging (n = 41, age 9.6 ± 3.9 years, 19 female). LQT1, LQT2, and negative responses to epinephrine were obtained in 16, 5, and 20 subjects, respectively. LQTS gene positivity was obtained in two subjects. Beta-blocker therapy was started in all subjects with a positive epinephrine response (n = 21) and in some negative responders because of their strong LQTS phenotype (n = 10). No therapy was given to the subset with less convincing features of LQTS who had also responded negatively to epinephrine (n = 10). Follow-up for 3.0 ± 2 years was uneventful in both management groups. Due to the discordance with genotyping, the epinephrine test cannot be used to diagnose genotype-positive LQTS but when used in combination with phenotype assessment and genetic screening, it could enable better management decisions.
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页码：462 / 468
页数：6
相关论文
共 96 条
  • [1] Crotti L(2008)Congenital long QT syndrome Orphanet J Rare Dis 3 18-1281
  • [2] Celano G(2005)Prevalence of the long QT syndrome Circulation 112 U724-1340
  • [3] Dagradi F(2008)Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome Heart Rhythm 5 1275-2300
  • [4] Schwartz PJ(2007)Long QT syndrome in children in the era of implantable defibrillators J Am Coll Cardiol 50 1335-2191
  • [5] Crotti L(2008)Long QT syndrome J Am Coll Cardiol 51 2291-113
  • [6] Stramba-Badiale M(2008)Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome Circulation 117 2184-1430
  • [7] Pedrazzini M(2005)High distress in parents whose children undergo predictive testing for long QT syndrome Community Genet 8 103-706
  • [8] Ferrandi C(2007)Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system? Eur Heart J 28 1399-580
  • [9] Insolia R(2005)Use of autonomic maneuvers to probe phenotype/genotype discordance in congenital long QT syndrome Am J Cardiol 96 1425-55
  • [10] Matteo PS(1991)Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene Science 252 704-989
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