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儿茶酚胺敏感多形性室性心动过速的临床与基因学研究进展 被引量：1

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摘要 儿茶酚胺敏感多形性室性心动过速（catecholaminergic polymorphic ventricular tachycardia,CPVT）又称儿茶酚胺依赖型多形性或家族性多形性室性心动过速（VT）,多发生于心脏结构及QT间期正常的儿童和年轻人,以运动或情绪激动时出现双向或多形性VT、导致晕厥和猝死为特征.CPVT为一种遗传性疾病,
作者 程中伟 朱孔博 方全
机构地区 中国医学科学院北京协和医学院北京协和医院心内科
出处 《中华心血管病杂志》 CAS CSCD 北大核心 2010年第7期664-667,共4页 Chinese Journal of Cardiology
关键词 儿茶酚胺敏感多形性室性心动过速 临床 基因学 遗传性疾病
分类号 R541.7 [医药卫生—心血管疾病]
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参考文献49

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二级参考文献12

  • 1Otsu K, Fuji J, Periasamy M, et al. Chromosome mapping of five human cardiac and skeletal muscle sarcoplasmie retieulum protein genes. Genomics, 1993,17 : 507-509.
  • 2Bhuiyan ZA, Hamdan MA, Shamsi ET, et al. A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. J Cardiov Electroph , 2007,18 : 1060-1066.
  • 3Lahat H, Pras E, Olender T, et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet,2001,69:1378-1384.
  • 4Lahat H, Eldar M, Levy-Nissenbaum E, et al. Autosomal recessive cate- cholamine-or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation ,2001,103 : 2822-2827.
  • 5Dirksen WP, Lacombe VA, Chi M, et al. A mutation in calsequestrin, CASQ2D307H, impairs Sarcoplasmic Reticulum Ca^2+ handling and causes complex ventricular arrhythmias in mice. Cardiovasc Res ,2007,75:69-78.
  • 6Postma AV, Denjoy I, Hoomtje TM, et al. Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res, 2002, 91:21-26.
  • 7Terentyev D, Nori A, Santoro M, et al. Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death. Circ Res, 2006,98 : 1151-1158.
  • 8di Barletta MR, Viatchenko-Karpinski S, Nori A, et al. Clinical phenotype and functional characterization of CASQ2 mutations associated with eatecholaminergle polymorphic vantrieular tachycardia. Circulation, 2006, 114: 1012-1019.
  • 9Knollmann BC, Chopra N, Hlaing T, et al. Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca^2+ release, and catecholaminergic polymorphic ventricular lachycardia. J Clin Invest, 2006,116 :2510-2520.
  • 10Song L, Alcalai R, Arad M, et al. Calsequestrin 2 ( CASQ2 ) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. J Clin Invest, 2007, 117 : 1814-1823.

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中华心血管病杂志
2010年 第7期

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