最近有心肌梗塞和心力衰竭的人

Dinkar Bhasin, Rahul Kumar, S. Bansal
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Cascades or waterfalls, the cataracts of genetic screening are being opened on clinical cardiology. J Am Coll Cardiol 2010;55:2577–9. 17 Richards S, Aziz N, Bale S, et al. 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 2015;17:405–24. 18 Kawata H, Ohno S, Aiba T, et al. Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations LongTerm Prognosis After Initiation of Medical Treatment. Circ J 2016;80:1907–15. 19 Rijnbeek PR, Witsenburg M, Schrama E, et al. New normal limits for the paediatric electrocardiogram. Eur Heart J 2001;22:702–11. 20 Rijnbeek PR, van Herpen G, Bots ML, et al. Normal values of the electrocardiogram for ages 1690 years. J Electrocardiol 2014;47:914–21. 21 Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106:69–74. 22 Priori SG, Chen SRW. Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis. Circ Res 2011;108:871–83. 23 MedeirosDomingo A, Bhuiyan ZA, Tester DJ, et al. The RYR2encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exerciseinduced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol 2009;54:2065–74. 24 Kanda Y. Investigation of the freely available easytouse software ’EZR’ for medical statistics. Bone Marrow Transplant 2013;48:452–8. 25 Leinonen JT, Crotti L, Djupsjöbacka A, et al. The genetics underlying idiopathic ventricular fibrillation: a special role for catecholaminergic polymorphic ventricular tachycardia? Int J Cardiol 2018;250:139–45. 26 Nesta AV, Tafur D, Beck CR. Hotspots of human mutation. Trends Genet 2021;37:30276–6. 27 Roston TM, Vinocur JM, Maginot KR, et al. Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry. Circ Arrhythm Electrophysiol 2015;8:633–42. 28 Hayashi M, Denjoy I, Extramiana F, et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation 2009;119:2426–34. 29 Roston TM, Kallas D, Davies B, et al. Burst exercise testing can unmask arrhythmias in patients with incompletely penetrant catecholaminergic polymorphic ventricular tachycardia. JACC: Clinical Electrophysiology 2021;7:437–41. 30 RouxBuisson N, Egéa G, Denjoy I, et al. Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring. 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引用次数: 0

摘要

携带Ryanodine受体突变的亲属。中国心律失常电生理杂志2012;5:748-56。[13]李建军,李建军,李建军,等。儿茶酚胺能多形性室性心动过速:心电图特征和预防猝死的最佳治疗策略。心2003;89:66 - 70。[14]张春华,张晓华,张晓华,等。儿茶酚胺能多态性室性心动过速患者RyR2基因遗传模式的性别差异。科学通报,2015;10:0131517。[15]李建军,李建军,李建军,等。关于通道病和心肌病基因检测状态的HRS/EHRA专家共识声明本文件是由心律学会(HRS)和欧洲心律协会(EHRA)合作制定的。心脏节律2011;8:1308-39。[16]陈永平。瀑布或瀑布,基因筛查的白内障正在临床心脏病学中打开。[J]中华医学杂志,2010;22(5):559 - 559。[17]李建军,李建军,李建军,等。序列变异解释的标准和指南:美国医学遗传学和基因组学学院和分子病理学协会的联合共识建议。中华医学杂志2015;17(5):591 - 591。[18]王晓明,王晓明,王晓明,等。儿茶酚胺能多态性室性心动过速(CPVT)与Ryanodine受体(RyR2)基因突变相关药物治疗后的长期预后中国医学杂志2016;80:1907-15。[19]李建军,李建军,李建军,等。儿科心电图新的正常范围。[J] .中华心脏杂志,2001;22(2):391 - 391。[20]李建军,李建军,李建军,等。1690岁的心电图正常值。[J]中华医学会心脏科杂志,2014;47(7):914 - 921。[21]李建军,李建军,李建军,等。儿茶酚胺能多形性室性心动过速的临床和分子特征。发行量2002;106:69 - 74。[22]陈世伟。肌浆网Ca2+处理和心律失常的遗传功能障碍。Circ Res 2011; 108:871-83。[23]张建军,张建军,张建军,等。先前诊断为儿茶碱能多态性室性心动过速或基因型阴性运动诱导的长QT综合征的患者中ryr2编码的ryanodine受体/钙释放通道:一项全面的开放阅读框突变分析中国生物医学工程学报(英文版);2009;44(4):563 - 564。24 Kanda Y.对免费提供的简易医疗统计软件“EZR”的调查。骨髓移植2013;48:45 - 45。[25]王晓明,王晓明,王晓明,等。特发性心室颤动的遗传学基础:儿茶酚胺能多形性室性心动过速的特殊作用?中华心血管病杂志,2018;25(2):391 - 391。26 Nesta AV, Tafur D, Beck CR.人类基因突变热点。科学通报,2011;37(3):376 - 376。[27]王晓明,王晓明,王晓明,等。儿茶酚胺能多态性室性心动过速儿童:来自国际多中心注册的治疗策略和结果分析。心律失常电生理学报,2015;8:633-42。[28]王晓明,王晓明,王晓明,等。儿茶酚胺能多形性室性心动过速心律失常的发生率及危险因素。发行量2009;119:2426-34。[29]王晓东,王晓东,王晓东,等。爆发性运动试验可以揭示不完全渗透儿茶酚胺能多态性室性心动过速患者的心律失常。JACC:临床电生理学2021;7:437-41。[30]刘建军,刘建军,刘建军,等。ryanodine受体2型基因突变的种系和体细胞嵌合体:对遗传咨询和患者护理的意义。Europace 2011; 13:130-2。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Man with recent myocardial infarction and heart failure
ryanodine receptor mutationcarrying relatives. Circ Arrhythm Electrophysiol 2012;5:748–56. 13 Sumitomo N, Harada K, Nagashima M, et al. Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. Heart 2003;89:66–70. 14 Ohno S, Hasegawa K, Horie M. Gender differences in the inheritance mode of RyR2 mutations in catecholaminergic polymorphic ventricular tachycardia patients. PLoS One 2015;10:e0131517. 15 Ackerman MJ, Priori SG, Willems S, et al. 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). Heart Rhythm 2011;8:1308–39. 16 Schwartz PJ. Cascades or waterfalls, the cataracts of genetic screening are being opened on clinical cardiology. J Am Coll Cardiol 2010;55:2577–9. 17 Richards S, Aziz N, Bale S, et al. 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 2015;17:405–24. 18 Kawata H, Ohno S, Aiba T, et al. Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations LongTerm Prognosis After Initiation of Medical Treatment. Circ J 2016;80:1907–15. 19 Rijnbeek PR, Witsenburg M, Schrama E, et al. New normal limits for the paediatric electrocardiogram. Eur Heart J 2001;22:702–11. 20 Rijnbeek PR, van Herpen G, Bots ML, et al. Normal values of the electrocardiogram for ages 1690 years. J Electrocardiol 2014;47:914–21. 21 Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106:69–74. 22 Priori SG, Chen SRW. Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis. Circ Res 2011;108:871–83. 23 MedeirosDomingo A, Bhuiyan ZA, Tester DJ, et al. The RYR2encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exerciseinduced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol 2009;54:2065–74. 24 Kanda Y. Investigation of the freely available easytouse software ’EZR’ for medical statistics. Bone Marrow Transplant 2013;48:452–8. 25 Leinonen JT, Crotti L, Djupsjöbacka A, et al. The genetics underlying idiopathic ventricular fibrillation: a special role for catecholaminergic polymorphic ventricular tachycardia? Int J Cardiol 2018;250:139–45. 26 Nesta AV, Tafur D, Beck CR. Hotspots of human mutation. Trends Genet 2021;37:30276–6. 27 Roston TM, Vinocur JM, Maginot KR, et al. Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry. Circ Arrhythm Electrophysiol 2015;8:633–42. 28 Hayashi M, Denjoy I, Extramiana F, et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation 2009;119:2426–34. 29 Roston TM, Kallas D, Davies B, et al. Burst exercise testing can unmask arrhythmias in patients with incompletely penetrant catecholaminergic polymorphic ventricular tachycardia. JACC: Clinical Electrophysiology 2021;7:437–41. 30 RouxBuisson N, Egéa G, Denjoy I, et al. Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring. Europace 2011;13:130–2.
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