Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy

Knight Linda M.; Miller Erin; Kovach Joshua; Arscott Patricia; von Alvensleben Johannes C.; Bradley David; Valdes Santiago O.; Ware Stephanie M.; Meyers Lindsay; Travers Curtis D.; Campbell Robert M.; Etheridge Susan P.

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Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy

机译：小儿长QT综合征及肥厚性心肌病的基因检测与级联筛查

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BACKGROUND The efficacy of cascade screening for the inherited heart conditions long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) is incompletely characterized.

机译：背景技术梯级筛选对遗传心脏条件长QT综合征（LQT）和肥厚性心肌病（HCM）的功效是不完全的。

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来源
《Heart rhythm: the official journal of the Heart Rhythm Society》 |2020年第1期|共7页
作者
Knight Linda M.; Miller Erin; Kovach Joshua; Arscott Patricia; von Alvensleben Johannes C.; Bradley David; Valdes Santiago O.; Ware Stephanie M.; Meyers Lindsay; Travers Curtis D.; Campbell Robert M.; Etheridge Susan P.;
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作者单位

Childrens Healthcare Atlanta Atlanta GA USA;

Cincinnati Childrens Hosp Med Ctr Cincinnati OH 45229 USA;

Childrens Hosp Wisconsin Milwaukee WI 53201 USA;

CS Mott Childrens Hosp Ann Arbor MI USA;

CS Mott Childrens Hosp Ann Arbor MI USA;

CS Mott Childrens Hosp Ann Arbor MI USA;

Texas Childrens Hosp Houston TX 77030 USA;

Cincinnati Childrens Hosp Med Ctr Cincinnati OH 45229 USA;

Univ Utah Sch Med Salt Lake City UT USA;

Emory Univ Sch Med Dept Pediat Atlanta GA USA;

Childrens Healthcare Atlanta Atlanta GA USA;

Univ Utah Sch Med Salt Lake City UT USA;

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原文格式 PDF
正文语种 eng
中图分类心脏、血管（循环系）疾病;
关键词
Cascade screening; Hypertrophic cardiomyopathy; Long QT syndrome; Precision medicine; Sudden death;

机译：级联筛查;肥厚性心肌病;长QT综合征;精密医学;猝死;

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专利

1. Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy [J] . Knight Linda M., Miller Erin, Kovach Joshua, Heart rhythm: the official journal of the Heart Rhythm Society . 2020,第1期

机译：小儿长QT综合征及肥厚性心肌病的基因检测与级联筛查
2. Impediments to DNA testing and cascade screening for hypertrophic cardiomyopathy and long QT syndrome: A qualitative study of patient experiences [J] . Smart A. Journal of genetic counseling . 2010,第6期

机译：肥厚型心肌病和长QT综合征的DNA检测和级联筛查的障碍：患者经历的定性研究
3. Impediments to DNA Testing and Cascade Screening for Hypertrophic Cardiomyopathy and Long QT syndrome: A Qualitative Study of Patient Experiences [J] . Journal of Genetic Counseling . 2010,第6期

机译：肥厚性心肌病和长QT综合征的DNA检测和级联筛查的障碍：患者经验的定性研究
4. GENETIC SCREENING OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY [C] . Kathryn M. Meurs American College of Veterinary Internal Medicine Forum . 2008

机译：家族肥厚性心肌病的遗传筛查
5. An assessment of determinants impacting genetic testing for hypertrophic cardiomyopathy [D] . Byrne, Lindsey 2008

机译：影响肥厚型心肌病基因检测的决定因素评估
6. Role of DNA testing for diagnosis management and genetic screening in long QT syndrome hypertrophic cardiomyopathy and Marfan syndrome [O] . G VINCENT 2001

机译：DNA检测在长QT综合征肥厚型心肌病和Marfan综合征的诊断管理和基因筛查中的作用
7. Impediments to DNA testing and cascade screening for hypertrophic cardiomyopathy and long QT syndrome: a qualitative study of patient experiences [O] . Smart, A 2010

机译：DNa测试的障碍和肥厚型心肌病和长QT综合征的级联筛查：对患者体验的定性研究

Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy

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