Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice.
作者信息
Tester David J, Ackerman Michael J
机构信息
Long QT Syndrome Clinic and the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN 55905, USA.
出版信息
Circulation. 2011 Mar 8;123(9):1021-37. doi: 10.1161/CIRCULATIONAHA.109.914838.
Abstract
摘要
相似文献
1
Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice.临床实践中对潜在致命、高度可治的遗传性心肌病/离子通道病进行基因检测。
Circulation. 2011 Mar 8;123(9):1021-37. doi: 10.1161/CIRCULATIONAHA.109.914838.
2
Personalized medicine: genetic diagnosis for inherited cardiomyopathies/channelopathies.个性化医疗：遗传性心肌病/离子通道病的基因诊断
Rev Esp Cardiol (Engl Ed). 2013 Apr;66(4):298-307. doi: 10.1016/j.rec.2012.12.010. Epub 2013 Feb 26.
3
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.香港华裔患者通道病和心肌病的遗传基础：十年区域实验室经验
Hong Kong Med J. 2018 Aug;24(4):340-349. doi: 10.12809/hkmj176870. Epub 2018 Mar 2.
4
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).心律协会（HRS）与欧洲心律协会（EHRA）合作制定的关于通道病和心肌病基因检测现状的专家共识声明。
Heart Rhythm. 2011 Aug;8(8):1308-39. doi: 10.1016/j.hrthm.2011.05.020.
5
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).心律协会（HRS）和欧洲心律协会（EHRA）关于通道病和心肌病基因检测现状的专家共识声明：本文件是由心律协会（HRS）与欧洲心律协会（EHRA）合作制定的。
Europace. 2011 Aug;13(8):1077-109. doi: 10.1093/europace/eur245.
6
Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement From the American Heart Association.临床心血管遗传学专业项目的建立：认识需求并满足标准：美国心脏协会的科学声明。
Circ Genom Precis Med. 2019 Jun;12(6):e000054. doi: 10.1161/HCG.0000000000000054. Epub 2019 May 23.
7
The role of genetics in primary ventricular fibrillation, inherited channelopathies and cardiomyopathies.遗传学在原发性心室颤动、遗传性离子通道病和心肌病中的作用。
Int J Cardiol. 2017 Jun 15;237:45-48. doi: 10.1016/j.ijcard.2017.03.119.
8
From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies.从基因发现到基因定制的临床管理：通道病和心肌病研究 25 年。
Europace. 2023 Aug 25;25(8). doi: 10.1093/europace/euad180.
9
[Latest news and perspectives in cardiogenetics].
G Ital Cardiol (Rome). 2018 Feb;19(2):91-100. doi: 10.1714/2868.28940.
10
Molecular diagnostics of cardiovascular diseases in sudden unexplained death.心血管疾病的分子诊断在不明原因猝死中的应用。
Cardiovasc Pathol. 2014 Jan-Feb;23(1):1-4. doi: 10.1016/j.carpath.2013.09.002. Epub 2013 Oct 22.
引用本文的文献
1
Ethnic and racial differences in Asian populations with ion channelopathies associated with sudden cardiac death.与心源性猝死相关的离子通道病亚洲人群中的种族和民族差异。
Front Cardiovasc Med. 2023 Aug 4;10:1253479. doi: 10.3389/fcvm.2023.1253479. eCollection 2023.
2
Application of next generation sequencing in cardiology: current and future precision medicine implications.下一代测序技术在心脏病学中的应用：当前及未来对精准医学的影响
Front Cardiovasc Med. 2023 Jun 23;10:1202381. doi: 10.3389/fcvm.2023.1202381. eCollection 2023.
3
Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects.罕见病的基因检测：伦理方面的系统评价
Front Genet. 2022 Jan 26;12:701988. doi: 10.3389/fgene.2021.701988. eCollection 2021.
4
Role of genetic testing in cardiomyopathies: Α primer for cardiologists.基因检测在心肌病中的作用：心脏病专家入门指南。
World J Cardiol. 2022 Jan 26;14(1):29-39. doi: 10.4330/wjc.v14.i1.29.
5
Reconnoitering the Role of Long-Noncoding RNAs in Hypertrophic Cardiomyopathy: A Descriptive Review.长链非编码 RNA 在肥厚型心肌病中的作用研究：描述性综述。
Int J Mol Sci. 2021 Aug 29;22(17):9378. doi: 10.3390/ijms22179378.
6
Case Report: A Novel Variant c.2262+3A>T of the Gene Results in Intron Retention Associated With Incessant Ventricular Tachycardias.病例报告：某基因的一种新型变异c.2262+3A>T导致内含子保留，并与持续性室性心动过速相关。
Front Med (Lausanne). 2021 Aug 4;8:659119. doi: 10.3389/fmed.2021.659119. eCollection 2021.
7
Hypertrophic Cardiomyopathy: A Review.肥厚型心肌病：综述。
Arq Bras Cardiol. 2020 Nov;115(5):927-935. doi: 10.36660/abc.20190802.
8
Sport and exercise genomics: the FIMS 2019 consensus statement update.运动与运动基因组学：2019年国际运动医学联合会共识声明更新
Br J Sports Med. 2020 Aug;54(16):969-975. doi: 10.1136/bjsports-2019-101532. Epub 2020 Mar 22.
9
Dilated cardiomyopathies and non-compaction cardiomyopathy.扩张型心肌病和致密化不全心肌病。
Herz. 2020 May;45(3):212-220. doi: 10.1007/s00059-020-04903-5.
10
Diagnostic yield of hypertrophic cardiomyopathy in first-degree relatives of decedents with idiopathic left ventricular hypertrophy.特发性左心室肥厚死者一级亲属中肥厚型心肌病的诊断率。
Europace. 2020 Apr 1;22(4):632-642. doi: 10.1093/europace/euaa012.
本文引用的文献
1
Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.KCNJ8 编码的心脏 K(ATP) 通道 Kir6.1 中的功能获得性突变 S422L 作为 J 波综合征的致病底物。
Heart Rhythm. 2010 Oct;7(10):1466-71. doi: 10.1016/j.hrthm.2010.06.016. Epub 2010 Jun 15.
2
Posthumous diagnosis of long QT syndrome from neonatal screening cards.从新生儿筛查卡片推断迟发性长 QT 综合征。
Heart Rhythm. 2010 Apr;7(4):481-6. doi: 10.1016/j.hrthm.2009.12.023. Epub 2010 Jan 4.
3
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.《致心律失常性右室心肌病基因检测适应证患者中 SCN5A 编码的心脏钠离子通道突变的国际纲要》
Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8.
4
A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.与Brugada心电图表型相关的心脏钠通道β3亚基突变。
Circ Cardiovasc Genet. 2009 Jun;2(3):270-8. doi: 10.1161/CIRCGENETICS.108.829192. Epub 2009 Apr 21.
5
The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.在先前被诊断为儿茶酚胺能多形性室性心动过速或基因型阴性的运动诱发长QT综合征患者中，由RYR2编码的兰尼碱受体/钙释放通道：一项全面的开放阅读框突变分析
J Am Coll Cardiol. 2009 Nov 24;54(22):2065-74. doi: 10.1016/j.jacc.2009.08.022.
6
Genotype-phenotype aspects of type 2 long QT syndrome.2型长QT综合征的基因型-表型特征
J Am Coll Cardiol. 2009 Nov 24;54(22):2052-62. doi: 10.1016/j.jacc.2009.08.028.
7
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.长QT综合征的基因检测：区分致病突变与良性变异。
Circulation. 2009 Nov 3;120(18):1752-60. doi: 10.1161/CIRCULATIONAHA.109.863076. Epub 2009 Oct 19.
8
Prevalence of the congenital long-QT syndrome.先天性长QT综合征的患病率。
Circulation. 2009 Nov 3;120(18):1761-7. doi: 10.1161/CIRCULATIONAHA.109.863209. Epub 2009 Oct 19.
9
Regulatory compliance for point-of-care testing: 2009 United States perspective.即时检验的法规遵循：2009年美国视角
Clin Lab Med. 2009 Sep;29(3):463-78. doi: 10.1016/j.cll.2009.06.012.
10
Therapeutic strategies for long-QT syndrome: does the molecular substrate matter?长QT综合征的治疗策略：分子基础重要吗？
Circ Arrhythm Electrophysiol. 2008 Oct;1(4):290-7. doi: 10.1161/CIRCEP.108.795617.
Zotero 插件