儿茶酚胺敏感性多行性室性心动过速的研究进展
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摘要
儿茶酚胺敏感性多形性室性心动过速(CPVT)是一种由心肌钙离子失调引起的罕见遗传性离子通道病,其特征是由交感肾上腺系统兴奋诱发的多形性室性心动过速,患者可表现为晕厥甚至心源性猝死。约56%的CPVT患者存在RyR2或CASQ2基因突变,该突变可导致心肌细胞肌质网的钙泄露,继而引起延迟后除极和触发冲动,但仍有近一半的患者病因未明。儿童、青少年进行体育锻炼或情绪激动时突发晕厥,应高度怀疑CPVT。β受体阻滞剂可有效减少室性心动过速的发作,既往有心脏骤停病史的患者,可置入心脏转复除颤器。目前的治疗方法还有交感神经节切除术、射频消融术等,基因治疗有可能成为未来的治疗方向。
引文
[1] Velcea AE,Siliste C, Vinereanu D. Catecholaminergic polymorphic ventricular tachycardia—looking to the future[J].Maedica(Buchar),2017,12(4):306-310.
[2] RostonTM, VinocurJM, MaginotKR, etal.Catecholaminergic polymorphic ventricular tachycardia in children:an analysis of therapeutic strategies and outcomes from an international multicenter registry[J].Circ Arrhythm Electrophysiol,2015,8(3):633-642.
[3] Swan H,Piippo K,Viitasalo M,et al.Arrhythmic disorder mappedtochromosome1q42-q43causesmalignant polymorphic ventricular tachycardia in structurally normal hearts[J].J Am Coll Cardiol,1999,34(7):2035-2042.
[4]黄雷,刘超,侯一丁,等.Ryanodine受体2和肌集钙蛋白2基因突变与儿茶酚胺敏感性多形性室性心动过速[J].广东医学,2013,34(8):1297-1299.
[5] Lahat H,Pras E,Olender T,et al.A missense mutation in a highly conserved region of CASQ2 is associated with autosomalrecessivecatecholamine-inducedpolymorphic ventricular tachycardia in Bedouin families from Israel[J].Am J Hum Genet,2001,69(6):1378-1384.
[6] Xiong J,Liu X,Gong Y,et al.Pathogenic mechanism of a catecholaminergicpolymorphicventriculartachycardia causing-mutation in cardiac calcium release channel RyR2[J].J Mol Cell Cardiol,2018,117:26-35.
[7]葛庆,袁越,杜军保,等.中国儿茶酚胺敏感性多形性室性心动过速患者RyR2基因突变分析[J].中国心脏起搏与心电生理杂志,2014,28(1):24-28.
[8] Manno C,Figueroa LC,Gillespie D,et al.Calsequestrin depolymerizes when calcium is depleted in the sarcoplasmic reticulum of working muscle[J].Proc Natl Acad Sci U S A,2017,114(4):E638-E647.
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[10] Rooryck C,Kyndt F,Bozon D,et al.New family with catecholaminergic polymorphic ventricular tachycardia linked to the triadin gene[J].J Cardiovasc Electrophysiol,2015,26(10):1146-1150.
[11] Pérez-Riera AR,Barbosa-Barros R,De Rezende Barbosa MPC,et al. Catecholaminergic polymorphic ventricular tachycardia,an update[J].Ann Noninvasive Electrocardiol,2018,23(4):e12512.
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[13] Behere SP,Weindling SN.Catecholaminergic polymorphic ventricular tachycardia:an exciting new era[J].Ann Pediatr Cardiol,2016,9(2):137-146.
[14] Kozlovski J,Ingles J,Connell V,et al.Delay to diagnosis amongstpatientswithcatecholaminergicpolymorphic ventricular tachycardia[J].Int J Cardiol,2014,176(3):1402-1404.
[15] Van der Werf C,Wilde AA.Catecholaminergic polymorphic ventricular tachycardia:disease with different faces[J].Circ Arrhythm Electrophysiol,2015,8(3):523-525.
[16]张萍.儿茶酚胺敏感性多形性室速心电图特征[J].临床心电学杂志,2014,23(1):14-17.
[17] Sy RW, Gollob MH, Klein GJ, et al. Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia[J]. Heart Rhythm,2011,8(6):864-871.
[18] Priori SG,Wilde AA,Horie M,et al.Executive summary:HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes[J]. Europace,2013,15(10):1389-1406.
[19] Marjamaa A,Hiippala A,Arrhenius B,et al.Intravenous epinephrine infusion test in diagnosis of catecholaminergic polymorphic ventricular tachycardia[J]. J Cardiovasc Electrophysiol,2012,23(2):194-199.
[20]中华心血管病杂志编辑委员会心律失常循证工作组.遗传性原发性心律失常综合征诊断与治疗中国专家共识[J].中华心血管病杂志,2015,43(1):5-21.
[21] Tofield A.Hikaru Sato and Takotsubo cardiomyopathy[J].Eur Heart J,2016,37(37):2812.
[22] Templin C,Ghadri JR,Diekmann J,et al.Clinical features and outcomes of takotsubo(stress)cardiomyopathy[J].N Engl J Med,2015,373(10):929-938.
[23] Miyake CY,Asaki SY,Webster G,et al.Circadian variation of ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia[J].JACC Clin Electrophysiol,2017,3(11):1308-1317.
[24]洪葵,刘欣,胡大一.2013HRS/EHRA/APHRS遗传性心律失常综合征患者诊断和治疗专家共识解读[J].中华心血管病杂志,2013,41(11):978-981.
[25] Leren IS,Saberniak J, Majid E.Nadolol decreases the incidence and severity of ventricular arrhythmias during exercise stress testing compared withβ1-selectiveβ-blockers in patients with catecholaminergic polymorphic ventricular tachycardia[J].Heart Rhythm,2016,13(2):433-440.
[26] Katz G, Khoury A, Kurtzwald E,et al. Optimizing catecholaminergicpolymorphicventriculartachycardia therapy in calsequestrin-mutant mice[J].Heart Rhythm,2010,7(16):76-82.
[27] Alcalai R, Wakimoto H,Arad M,et al.Prevention of ventricular arrhythmia and calcium dysregulation in a catecholaminergic polymorphic ventricular tachycardia mouse model carrying calsequestrin-2 mutation[J].J Cardiovasc Electrophysiol,2011,22(3):316-324.
[28] Smith GL,MacQuaide N.The direct actions of flecainide on the human cardiac ryanodine receptor:keeping open the debate on the mechanism of action of local anesthetics in CPVT[J].Circ Res,2015,116(8):1284-1286.
[29] Watanable H,Chopra N,Laver D,et al.Flecainide prevents catecholamiergic polymorphic ventricular tachycardia in mice and humans[J].Nat Med,2009,15(4):380-383.
[30] Padfield GJ,AlAhmari L,Lieve KV,et al.Flecainide monotherapy is an option for selected patients with catecholaminergicpolymorphicventriculartachycardia intolerant ofβ-blockade[J].Heart Rhythm,2016,13(2):609-613.
[31] De Ferrari GM,Dusi V,Spazzolini C,et al.Response to letters regarding article,"clinical management of catecholaminergic polymorphic ventricular tachycardia:the role of left cardiac sympathetic denervation"[J].Circulation,2016,133(4):e366-e367.
[32] Olde Nordkamp LR,Driessen AH,Odero A,et al.Left cardiac sympathetic denervation in the Netherlands for the treatment of inherited arrhythmia syndromes[J].Neth Heart J,2014,22(4):160-166.
[33] Hofferberth SC,Cecchin F,Loberman D,et al. Left thoracoscopic sympathectomy for cardiac denervation in patients with life-threatening ventricular arrhythmias[J].J Thorac Cardiovasc Surg,2014,147(1):404-409.
[34] Yu WS,Kim TH,Suh JW,et al.Thoracoscopic left cardiac sympathetic denervation for a patient with catecholaminergic polymorphic ventricular tachycardia and recurrent implantable cardioverter-defibrillator shocks[J]. Korean J Thorac Cardiovasc Surg,2015,48(3):220-224.
[35] Kaneshiro T,Naruse Y,Nogami A,et al.Successful catheter ablation of bidirectional ventricular premature contractions triggering ventricular fibrillation in catecholaminergic polymorphic ventricular tachycardia with RyR2 mutation[J].Circ Arrhythm Electrophysid,2012,5(1):e14-e17.
[36] Hajjar RJ,Lyon AR.Gene therapy for the treatment of catecholaminergic polymorphic ventricular tachycardia[J].Circulation,2014,129(25):2633-2635.
[2] RostonTM, VinocurJM, MaginotKR, etal.Catecholaminergic polymorphic ventricular tachycardia in children:an analysis of therapeutic strategies and outcomes from an international multicenter registry[J].Circ Arrhythm Electrophysiol,2015,8(3):633-642.
[3] Swan H,Piippo K,Viitasalo M,et al.Arrhythmic disorder mappedtochromosome1q42-q43causesmalignant polymorphic ventricular tachycardia in structurally normal hearts[J].J Am Coll Cardiol,1999,34(7):2035-2042.
[4]黄雷,刘超,侯一丁,等.Ryanodine受体2和肌集钙蛋白2基因突变与儿茶酚胺敏感性多形性室性心动过速[J].广东医学,2013,34(8):1297-1299.
[5] Lahat H,Pras E,Olender T,et al.A missense mutation in a highly conserved region of CASQ2 is associated with autosomalrecessivecatecholamine-inducedpolymorphic ventricular tachycardia in Bedouin families from Israel[J].Am J Hum Genet,2001,69(6):1378-1384.
[6] Xiong J,Liu X,Gong Y,et al.Pathogenic mechanism of a catecholaminergicpolymorphicventriculartachycardia causing-mutation in cardiac calcium release channel RyR2[J].J Mol Cell Cardiol,2018,117:26-35.
[7]葛庆,袁越,杜军保,等.中国儿茶酚胺敏感性多形性室性心动过速患者RyR2基因突变分析[J].中国心脏起搏与心电生理杂志,2014,28(1):24-28.
[8] Manno C,Figueroa LC,Gillespie D,et al.Calsequestrin depolymerizes when calcium is depleted in the sarcoplasmic reticulum of working muscle[J].Proc Natl Acad Sci U S A,2017,114(4):E638-E647.
[9] Roston TM,Cunningham TC,Sanatani S.Advances in the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia[J].Cardiol Young,2017,27(S1):S49-S56.
[10] Rooryck C,Kyndt F,Bozon D,et al.New family with catecholaminergic polymorphic ventricular tachycardia linked to the triadin gene[J].J Cardiovasc Electrophysiol,2015,26(10):1146-1150.
[11] Pérez-Riera AR,Barbosa-Barros R,De Rezende Barbosa MPC,et al. Catecholaminergic polymorphic ventricular tachycardia,an update[J].Ann Noninvasive Electrocardiol,2018,23(4):e12512.
[12] Celiker A,Erdogˇan I,Karag9z T,et al.Clinical experiences of patients with catecholaminergic polymorphic ventricular tachycardia[J].Cardiol Young,2009,19(1):45-52.
[13] Behere SP,Weindling SN.Catecholaminergic polymorphic ventricular tachycardia:an exciting new era[J].Ann Pediatr Cardiol,2016,9(2):137-146.
[14] Kozlovski J,Ingles J,Connell V,et al.Delay to diagnosis amongstpatientswithcatecholaminergicpolymorphic ventricular tachycardia[J].Int J Cardiol,2014,176(3):1402-1404.
[15] Van der Werf C,Wilde AA.Catecholaminergic polymorphic ventricular tachycardia:disease with different faces[J].Circ Arrhythm Electrophysiol,2015,8(3):523-525.
[16]张萍.儿茶酚胺敏感性多形性室速心电图特征[J].临床心电学杂志,2014,23(1):14-17.
[17] Sy RW, Gollob MH, Klein GJ, et al. Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia[J]. Heart Rhythm,2011,8(6):864-871.
[18] Priori SG,Wilde AA,Horie M,et al.Executive summary:HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes[J]. Europace,2013,15(10):1389-1406.
[19] Marjamaa A,Hiippala A,Arrhenius B,et al.Intravenous epinephrine infusion test in diagnosis of catecholaminergic polymorphic ventricular tachycardia[J]. J Cardiovasc Electrophysiol,2012,23(2):194-199.
[20]中华心血管病杂志编辑委员会心律失常循证工作组.遗传性原发性心律失常综合征诊断与治疗中国专家共识[J].中华心血管病杂志,2015,43(1):5-21.
[21] Tofield A.Hikaru Sato and Takotsubo cardiomyopathy[J].Eur Heart J,2016,37(37):2812.
[22] Templin C,Ghadri JR,Diekmann J,et al.Clinical features and outcomes of takotsubo(stress)cardiomyopathy[J].N Engl J Med,2015,373(10):929-938.
[23] Miyake CY,Asaki SY,Webster G,et al.Circadian variation of ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia[J].JACC Clin Electrophysiol,2017,3(11):1308-1317.
[24]洪葵,刘欣,胡大一.2013HRS/EHRA/APHRS遗传性心律失常综合征患者诊断和治疗专家共识解读[J].中华心血管病杂志,2013,41(11):978-981.
[25] Leren IS,Saberniak J, Majid E.Nadolol decreases the incidence and severity of ventricular arrhythmias during exercise stress testing compared withβ1-selectiveβ-blockers in patients with catecholaminergic polymorphic ventricular tachycardia[J].Heart Rhythm,2016,13(2):433-440.
[26] Katz G, Khoury A, Kurtzwald E,et al. Optimizing catecholaminergicpolymorphicventriculartachycardia therapy in calsequestrin-mutant mice[J].Heart Rhythm,2010,7(16):76-82.
[27] Alcalai R, Wakimoto H,Arad M,et al.Prevention of ventricular arrhythmia and calcium dysregulation in a catecholaminergic polymorphic ventricular tachycardia mouse model carrying calsequestrin-2 mutation[J].J Cardiovasc Electrophysiol,2011,22(3):316-324.
[28] Smith GL,MacQuaide N.The direct actions of flecainide on the human cardiac ryanodine receptor:keeping open the debate on the mechanism of action of local anesthetics in CPVT[J].Circ Res,2015,116(8):1284-1286.
[29] Watanable H,Chopra N,Laver D,et al.Flecainide prevents catecholamiergic polymorphic ventricular tachycardia in mice and humans[J].Nat Med,2009,15(4):380-383.
[30] Padfield GJ,AlAhmari L,Lieve KV,et al.Flecainide monotherapy is an option for selected patients with catecholaminergicpolymorphicventriculartachycardia intolerant ofβ-blockade[J].Heart Rhythm,2016,13(2):609-613.
[31] De Ferrari GM,Dusi V,Spazzolini C,et al.Response to letters regarding article,"clinical management of catecholaminergic polymorphic ventricular tachycardia:the role of left cardiac sympathetic denervation"[J].Circulation,2016,133(4):e366-e367.
[32] Olde Nordkamp LR,Driessen AH,Odero A,et al.Left cardiac sympathetic denervation in the Netherlands for the treatment of inherited arrhythmia syndromes[J].Neth Heart J,2014,22(4):160-166.
[33] Hofferberth SC,Cecchin F,Loberman D,et al. Left thoracoscopic sympathectomy for cardiac denervation in patients with life-threatening ventricular arrhythmias[J].J Thorac Cardiovasc Surg,2014,147(1):404-409.
[34] Yu WS,Kim TH,Suh JW,et al.Thoracoscopic left cardiac sympathetic denervation for a patient with catecholaminergic polymorphic ventricular tachycardia and recurrent implantable cardioverter-defibrillator shocks[J]. Korean J Thorac Cardiovasc Surg,2015,48(3):220-224.
[35] Kaneshiro T,Naruse Y,Nogami A,et al.Successful catheter ablation of bidirectional ventricular premature contractions triggering ventricular fibrillation in catecholaminergic polymorphic ventricular tachycardia with RyR2 mutation[J].Circ Arrhythm Electrophysid,2012,5(1):e14-e17.
[36] Hajjar RJ,Lyon AR.Gene therapy for the treatment of catecholaminergic polymorphic ventricular tachycardia[J].Circulation,2014,129(25):2633-2635.