第40回理論心電図研究会 カテコラミン誘発性多形性心室頻拍家系におけるリアソジン受容体遺伝子変異
カテコラミン誘発性多形性心室頻拍(CPVT)は器質的心異常を認めないが,身体的および感情的ストレスにより二方向性心室頻拍や多形性心室頻拍が誘発される疾患群である.本症は若年性突然死の強力なハイリスクである.近年,疾患の遺伝子座がlq42-q43に同定され,心臓リアノジン受容体(RyR2)遺伝子異常が背景にあることが判明した.われわれは本邦におけるRyR2と致死的不整脈との関わりを調べるためにCPVTを含むさまざまな遺伝性不整脈疾患のRyR2解析を行った.本報告は本邦におけるCPVTに関連するRyR2変異の第1例目を含めて報告する....
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| Published in | 心臓 Vol. 38; no. 5; pp. 536 - 541 |
|---|---|
| Main Authors | , , , , , , , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
公益財団法人 日本心臓財団
2006
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0586-4488 2186-3016 |
| DOI | 10.11281/shinzo1969.38.5_536 |
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| Abstract | カテコラミン誘発性多形性心室頻拍(CPVT)は器質的心異常を認めないが,身体的および感情的ストレスにより二方向性心室頻拍や多形性心室頻拍が誘発される疾患群である.本症は若年性突然死の強力なハイリスクである.近年,疾患の遺伝子座がlq42-q43に同定され,心臓リアノジン受容体(RyR2)遺伝子異常が背景にあることが判明した.われわれは本邦におけるRyR2と致死的不整脈との関わりを調べるためにCPVTを含むさまざまな遺伝性不整脈疾患のRyR2解析を行った.本報告は本邦におけるCPVTに関連するRyR2変異の第1例目を含めて報告する. |
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| AbstractList | カテコラミン誘発性多形性心室頻拍(CPVT)は器質的心異常を認めないが,身体的および感情的ストレスにより二方向性心室頻拍や多形性心室頻拍が誘発される疾患群である.本症は若年性突然死の強力なハイリスクである.近年,疾患の遺伝子座がlq42-q43に同定され,心臓リアノジン受容体(RyR2)遺伝子異常が背景にあることが判明した.われわれは本邦におけるRyR2と致死的不整脈との関わりを調べるためにCPVTを含むさまざまな遺伝性不整脈疾患のRyR2解析を行った.本報告は本邦におけるCPVTに関連するRyR2変異の第1例目を含めて報告する. |
| Author | 相澤, 義泰 上田, 和雄 相澤, 義房 木村, 彰方 小村, 悟 平岡, 昌和 三好, 史人 小林, 洋一 池主, 雅臣 三間, 渉 鷲塚, 隆 櫻田, 春水 |
| Author_xml | – sequence: 1 fullname: 相澤, 義泰 organization: 新潟大学医歯学総合研究科循環器学分野 – sequence: 1 fullname: 上田, 和雄 organization: 東京医科歯科大学難治疾患研究所 – sequence: 1 fullname: 小村, 悟 organization: 新潟大学医歯学総合研究科循環器学分野 – sequence: 1 fullname: 鷲塚, 隆 organization: 新潟大学医歯学総合研究科循環器学分野 – sequence: 1 fullname: 相澤, 義房 organization: 新潟大学医歯学総合研究科循環器学分野 – sequence: 1 fullname: 三間, 渉 organization: 新潟大学医歯学総合研究科循環器学分野 – sequence: 1 fullname: 三好, 史人 organization: 昭和大学医学部第三内科 – sequence: 1 fullname: 小林, 洋一 organization: 昭和大学医学部第三内科 – sequence: 1 fullname: 櫻田, 春水 organization: 都立広尾病院 – sequence: 1 fullname: 平岡, 昌和 organization: 東京医科歯科大学難治疾患研究所 – sequence: 1 fullname: 池主, 雅臣 organization: 新潟大学医歯学総合研究科循環器学分野 – sequence: 1 fullname: 木村, 彰方 organization: 東京医科歯科大学難治疾患研究所 |
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| References | 12) Aizawa Y, Ueda K, Komura 5, et al: A novel mutation in FKBP12. 6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia. Int J Cardiol 2005; 99: 343-345 16) Wehrens Xli, Lehnart SE, Huang F, et al: FKBP12. 6deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell 2003; 113: 829-840 15) Jiang D, Xiao B, Zhang L. Chen SR: Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death. Circ Res 2002; 91: 218-225 8) Tiso N, Stephan DA, Nava A. et al: Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001; 10: 189-194 2) Leenhardt A, Lucet V, Denjoy I, et al: Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation 1995; 91: 1512-1519 1) Coumel P, Fiddle J, Lucet V, et al: Catecholaminergicinduced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases. Brit Heart J 1978; 40 (suppl): 28-37 10) Wilde AA, Antzelevitch C, Borggrefe M, et al: Study Group on the Molecular Basis of Arrhythmias of the European Society of Cardiology. Proposed diagnostic criteria for the Brugada syndrome. Eur Heart J 2002; 23: 1648-1654 7) Rampazzo A, Nava A, Erne P, et al: A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome lq42-q43. Hum Mol Genet 1995; 4: 2151-2154 17) Yano M, Ikeda Y, Matsuzaki M: Altered intracellular Ca2+ handling in heart failure. J Clin Invest 2005; 115: 556-564 11) Corrado D, Buja G, Basso C, Thiene G: Clinical diagnosis and management strategies in arrhythmogenic right ventricular cardiomyopathy. J Electrocardiol 2000; 33 (suppl): 49-55 9) Schwartz PJ, Moss AJ, Vincent GM, Crampton RS: Diagnostic criteria for the long QT syndrome. An update. Circulation 1993; 88: 782-784 5) Laitinen PJ, Brown KM, Piippo K, et al: Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001; 103: 485-490 13) Priori SG, Napolitano C, Memmi IVI, et al: Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002; 106: 69-74 3) Swan Piippo K, Viitasalo M, et al: Arrhythmic disorder mapped to chromosome lq42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol 1999; 34: 2035-2042 4) Priori SG, Napolitano C, Tiso N, et al: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001; 103: 196-200 6) Lahat 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 14) Aizawa Y, Mitsuma W, Ikra T, et al: Human cardiac ryanodine receptor mutations in ion channel disorders in Japan. Int J Cardiol 2006 (in press |
| References_xml | – reference: 2) Leenhardt A, Lucet V, Denjoy I, et al: Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation 1995; 91: 1512-1519 – reference: 10) Wilde AA, Antzelevitch C, Borggrefe M, et al: Study Group on the Molecular Basis of Arrhythmias of the European Society of Cardiology. Proposed diagnostic criteria for the Brugada syndrome. Eur Heart J 2002; 23: 1648-1654 – reference: 16) Wehrens Xli, Lehnart SE, Huang F, et al: FKBP12. 6deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell 2003; 113: 829-840 – reference: 15) Jiang D, Xiao B, Zhang L. Chen SR: Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death. Circ Res 2002; 91: 218-225 – reference: 17) Yano M, Ikeda Y, Matsuzaki M: Altered intracellular Ca2+ handling in heart failure. J Clin Invest 2005; 115: 556-564 – reference: 11) Corrado D, Buja G, Basso C, Thiene G: Clinical diagnosis and management strategies in arrhythmogenic right ventricular cardiomyopathy. J Electrocardiol 2000; 33 (suppl): 49-55 – reference: 4) Priori SG, Napolitano C, Tiso N, et al: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 2001; 103: 196-200 – reference: 6) Lahat 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 – reference: 12) Aizawa Y, Ueda K, Komura 5, et al: A novel mutation in FKBP12. 6 binding region of the human cardiac ryanodine receptor gene (R2401H) in a Japanese patient with catecholaminergic polymorphic ventricular tachycardia. Int J Cardiol 2005; 99: 343-345 – reference: 14) Aizawa Y, Mitsuma W, Ikra T, et al: Human cardiac ryanodine receptor mutations in ion channel disorders in Japan. Int J Cardiol 2006 (in press) – reference: 9) Schwartz PJ, Moss AJ, Vincent GM, Crampton RS: Diagnostic criteria for the long QT syndrome. An update. Circulation 1993; 88: 782-784 – reference: 7) Rampazzo A, Nava A, Erne P, et al: A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome lq42-q43. Hum Mol Genet 1995; 4: 2151-2154 – reference: 3) Swan Piippo K, Viitasalo M, et al: Arrhythmic disorder mapped to chromosome lq42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol 1999; 34: 2035-2042 – reference: 5) Laitinen PJ, Brown KM, Piippo K, et al: Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001; 103: 485-490 – reference: 8) Tiso N, Stephan DA, Nava A. et al: Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001; 10: 189-194 – reference: 1) Coumel P, Fiddle J, Lucet V, et al: Catecholaminergicinduced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases. Brit Heart J 1978; 40 (suppl): 28-37 – reference: 13) Priori SG, Napolitano C, Memmi IVI, et al: Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002; 106: 69-74 |
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| Snippet | カテコラミン誘発性多形性心室頻拍(CPVT)は器質的心異常を認めないが,身体的および感情的ストレスにより二方向性心室頻拍や多形性心室頻拍が誘発される疾患群である.本... |
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| SubjectTerms | カテコラミン誘発性多形性心室頻拍 リアノジン受容体 二方向性心室頻拍 遺伝子異常 |
| Title | 第40回理論心電図研究会 カテコラミン誘発性多形性心室頻拍家系におけるリアソジン受容体遺伝子変異 |
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