Genetic testing and the diagnostic puzzle of long QT syndrome

Katy M. Harris; Penny M. Messner; Elizabeth L. Pestka

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Genetic testing and the diagnostic puzzle of long QT syndrome

机译：长QT综合征的基因检测和诊断难题

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You're caring for TB, a 5-year-old boy with the genetic disorder of type 3 congenital long QT syndrome (LQTS). His mother, Ms. B, has completed an Internet search on LQTS, and asks why her son isn't being treated with an implantable cardioverter defibrillator (ICD) and beta-blockers, the approach she read about online. Do you know that that LQTS comes in several different varieties, called genotypes, and that each type is treated a little differently? This article will describe the importance of genetic testing in understanding and treating LQTS, and how you can explain TB's treatment to his mother.

机译：您正在照顾TB，一个5岁的男孩，患有3型先天性长QT综合征（LQTS）遗传病。他的母亲B女士已经完成了有关LQTS的互联网搜索，并询问为什么她的儿子没有得到植入式心脏复律除颤器（ICD）和β受体阻滞剂的治疗，这是她在网上了解到的方法。您是否知道LQTS有几种不同的变种，称为基因型，并且每种类型的处理方式略有不同？本文将介绍基因测试在理解和治疗LQTS中的重要性，以及如何向TB妈妈解释TB的治疗方法。

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《Nursing critical care》 |2011年第6期|共2页
作者
Katy M. Harris; Penny M. Messner; Elizabeth L. Pestka;
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正文语种 eng
中图分类护理学;
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1. Genetic testing and the diagnostic puzzle of long QT syndrome [J] . Katy M. Harris, Penny M. Messner, Elizabeth L. Pestka Nursing critical care . 2011,第6期

机译：长QT综合征的基因检测和诊断难题
2. Long QT Syndrome: Integrating Genetic Testing into a Diagnostic Work Flow: A Process to Identify Opportunities and Gaps [J] . Lockhart E. R., Frank J. E., Greene C., The Journal of molecular diagnostics: JMD . 2017,第6期

机译：Long Qt综合征：将遗传测试集成到诊断工作流程中：一个识别机会和差距的过程
3. Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. [J] . Tester DJ, Benton AJ, Train L, The American Journal of Cardiology . 2010,第8期

机译：主要的长期QT综合征易感基因中大缺失或重复的发生率和频谱以及对长期QT综合征基因检测的影响。
4. EXERCISE TESTING IN THE CONGENITAL LONG QT SYNDROME [C] . International Conference on the Growth Plate . 2002

机译：先天性长QT综合征的运动测试
5. Development of Genetic Goat and Hamster Models of Atrial Fibrillation and Long QT Syndrome; and Genetic Hamster Models of Middle East Respiratory Syndrome. [D] . Rasmussen, Dane A. 2016

机译：心房颤动和长QT综合征的山羊和仓鼠遗传模型的建立；和中东呼吸综合征的遗传仓鼠模型。
6. Prevalence and Spectrum of Large Deletions or Duplications in the Major Long QT Syndrome-Susceptibility Genes and Implications for Long QT Syndrome Genetic Testing [O] . David J. Tester, Amber J. Benton, Laura Train, -1

机译：大型QT综合征 - 易感基因的大缺失或重复性的患病率和频谱和长QT综合征遗传检测的影响
7. Letter by Kaufman Regarding Article, “Closer Look at Genetic Testing in Long-QT Syndrome: Will DNA Diagnostics Ever Be Enough?” [O] . Elizabeth S. Kaufman 2010

机译：Kaufman关于文章的信，“仔细观察Long-Qt综合征的遗传学测试：DNA诊断都足够了吗？”

Genetic testing and the diagnostic puzzle of long QT syndrome

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