非扩张性左心室心肌病心源性猝死的发生率、风险评估和预防

小雁的记事本 2024-06-28 08:22:53

泰达国际心血管病医院 郑 刚

非扩张性左心室心肌病(NDLVC)定义为心脏核磁显影(CMR)上存在非缺血性左心室(LV)瘢痕或脂肪替代无左心室扩张,伴有或不伴有整体/局部左心室壁运动异常,或孤立的整体左心室运动功能减退(即左心室射血分数[LVEF]<50%),由异常负荷条件导致[1-2]。NDLVC与扩张性心肌病(DCM)和致心律失常性右心室(ARVC)具有相似的遗传背景,关于NDLVC的自然史和心源性猝死(SCD)风险的大多数数据来源于包括DCM患者在内的研究和抗逆转录病毒药物。高风险遗传背景(如LMNA、TMEM43、DSP、RBM20、PLN、FLNC截短变体)是NDLVC患者SCD风险的主要决定因素,而没有关于无已知基因突变患者风险评估的可靠数据。在等待进一步证据之前,目前指南建议,NDLVC患者的初次心脏复律除颤器(ICD)植入应遵循与DCM患者相同的建议[1-2]。

1 肥厚型心肌病(HCM)

1.1 心源性猝死的发病率和危险因素 当代数据表明,HCM中SCD的发病率为每年0.5%[3],并且是年轻HCM患者的主要死亡模式[4]。

1.2 临床特征 HCM中心脏重塑的几个关键特征预示着SCD的风险更高。左心室肥大增加(尤其是最大壁厚≥30 mm)与HCM患者SCD风险增加相关[5]。左心房直径增大也预示着更高的风险[6]。左心室流出道梗阻(LVOTO)的预测值似乎为低阳性(8%)和高阴性(92%)[7]。运动期间异常血压反应(尤其是年龄>40岁的患者)[8-9]、左心室收缩功能障碍(LVEF<50%)[10]和左心室心尖室壁瘤(无论大小)的独立预测值的证据不太令人信服[11]。前瞻性评估已将年龄确定为与SCD风险呈负相关的独立预测因素[12]。风险因素,例如严重左心室肥大、非持续性性室性心动过速(NSVT)和不明原因综合征似乎对年轻患者的SCD风险有更强影响[13-15]。近期晕厥史(即评估前6个月内)与SCD的风险高出五倍有关[15]。与症状较多的个体(纽约心脏协会功能分类[NYHA] III级,29%)相比,无症状或轻度症状的HCM患者(NYHA I-II级,71%)中SCD也更普遍[12]。HCM的体力活动和SCD的关系似乎更为模糊,大多数SCD事件发生在休息时,但SCD可能发生在一定程度的体力活动期间或之后[12]。同样,在经历过SCD的年轻运动员中,HCM是尸检发现的最常见疾病,占SCD受害者的36%[16]。另一方面,最近数据未显示植入ICD后继续参加体育活动的HCM患者发生SCD的风险更高的证据[17]。小型介入研究表明,参加中等强度运动训练的HCM病人运动能力有所提高,未发生重大不良事件[18]。这些数据强调需要进一步定义HCM运动的适当强度和长期安全性。

1.3 遗传背景 在约40%的散发性和约60%的家族性HCM病例中可以检测到肌节基因的致病性变异,最常见的是影响心肌肌球蛋白结合蛋白C(cMyBP-C)、β-肌球蛋白重链(β-MHC)和心肌肌钙蛋白T和I(TNNT2和TNNI3)。一项对51个研究(共7 675名HCM患者)进行的荟萃分析调查了基因型-表型相关性,将致病基因变异的存在与临床表型联系起来,临床表型的特点是发病较早,传导异常倾向更大,SCD和进行性心力衰竭(HF)的风险更高[19]。然而,肌节基因变异超出SCD既定风险因素的预后意义仍有待证实。一级亲属<40岁时有可归因于HCM的SCD病史,与SCD的个体风险增加相关,特别是与其他风险因素相结合[20]。

1.4 电不稳定标志物 在休息、体力消耗或之后立即监测动态心电图时检测到NSVT(定义为≥3次连续心室跳动,≥120 bpm,持续<30 s),表明HCM患者的SCD风险增加[13,21]。年轻患者的预后相关性更高,而NSVT发作的频率、持续时间和发生率与预后无关[13]。

1.5 心肌纤维化 一项前瞻性队列研究确定,无论其他风险因素如何,CMR上广泛的心肌纤维化[晚期钆增强(LGE)≥左心室质量的15%]是HCM中SCD风险增加两倍的预测因素[22]。与传统风险因素相比,纳入LGE可改善SCD的预测[22]。这一点得到了七项研究(共2 993名患者)的荟萃分析证实,该研究表明,LGE每增加10%,HCM患者的SCD风险则将独立增加36%[23]。

1.6 预防心源性猝死 尽管在缺乏已知风险标志物的情况下,HCM中很少发生SCD,但有风险因素的患者事件发生率更高,且其聚集性增加了个体风险[24]。然而,HCM患者SCD的总体发病率较低,且终身器械治疗的危险性,因此需明智地选择初次植入ICD的日期,并考虑患者的偏好、信念和价值观、竞争风险和器械相关并发症[2,24]。HCM中的SCD风险评估有两种既定方法。早期提出并在当前2020年美国心脏协会/美国心脏病学会指南中更新的一种方法规定了一种系统性非侵入性评估,以确定与SCD强相关的个体风险因素[25]。对于患有HCM和≥1个主要风险因素的成人,ICD是一种合适选择[25]。与其他方法相比,这种方法使美国HCM患者的预防性ICD植入率更高[26]。ESC指南规定的另一种方法建议根据风险预测工具(HCM risk SCD)计算SCD的个体化5年风险[1-2],该风险预测工具通过SCD的独立风险因素建模建立。目前缺乏强有力的支持数据证明其独立的预测作用[1-2]。在1~16岁的儿童中,HCM儿童风险评分已在指导预防性ICD植入中得到验证[27]。

在1~16岁的儿童中,HCM风险儿童评分[27]已在指导预防性ICD植入中得到验证[1-2]。应每隔1~2年或如果观察到临床状态发生变化,对SCD风险进行重新评估[2]。几乎没有证据表明药物治疗(即β受体阻滞剂、吡喃二胺或胺碘酮)可降低HCM的SCD风险[28]。同样,手术或酒精性间隔缩小术后仍有SCD的残余风险,尽管与药物治疗患者相比较低[29]。目前,对选择性肌球蛋白抑制剂玛伐凯泰(mavacamten)对SCD风险的影响知之甚少。尽管在改善运动耐受性和左心室流出道阻塞方面取得了有希望的结果,但使用玛伐凯泰与可逆性LVEF恶化的比率高出许多[30-31],对SCD风险的潜在影响尚不清楚。几种新药物即将问世,有望降低致心律失常的风险[32]。目前,预防HCM患者SCD的唯一可用选择仍然是预防性植入ICD[4]。此外,具有高危特征的HCM患者(有心搏骤停/不明原因晕厥史,5年时估计中等SCD风险≥4%,静息时左心室流出道梯度>30 mm Hg,异常运动血压反应或运动诱发心律失常应避免高强度运动[33]。

2 致心律失常的右心室心肌病(ARVC)

2.1 心脏性猝死的发病率和危险因素 ARVC包括右心室(RV)占优势型、左心室占优势型和双心室型,预示室性心律失常的高风险(每年发生率3.7%~10%)[34-35]。一项对52项队列研究(共5 485名ARVC患者)的荟萃分析报告称,在没有ICD的ARVC患者中,SCD的发生率约为每年0.7%,而在接受ICD的患者中,其SCD的发病率显著较低(每年每1000名患者中有0.65人发生SCD)ARVC[30]。

2.2 临床特征 现有数据表明,ARVC中更广泛的心肌疾病会导致更高的恶性心室心律失常/SCD风险。具体而言,右心室扩张/收缩功能障碍(特别是面积减少)[37]、左心室受累、明显HF[38]、以及结构性疾病进展的证据与更高的SCD[39-40]。近期综合征病史(6~12个月内)也与较高的SCD风险相关[41-43]。多项关于ARVC的研究表明,与女性相比,男性发生室性心律失常/SCD的风险有更高趋势[35-44]。尽管原因尚不清楚,但已假设男性的平均体力消耗水平更高,并存在特定的细胞机制[45]。高强度体力消耗与早期临床表现、发生室性心律不齐/SCD的更高风险以及更容易发展为需要心脏移植的进行性HF有关[46]。因此,不建议ARVC患者(以及基因阳性但表型的患者)进行高强度运动[33]。

2.3 遗传背景 在大多数情况下,ARVC是一种遗传性疾病,与桥粒基因或非桥粒基因的致病基因变异有关。除了完全渗透TMEM43 p.S358L变异体外,大多数变异体遵循自身染色体显性遗传模式,具有不完全穿透性[47]。与进行性心肌病和高心律失常风险相关具有突变的患者发病更早[48],而具有一个以上突变的患者在更早的年龄发生室性心律失常的风险更高,总体预后较差[49]。家族成员的疾病外显率约为30%,阳性基因检测可识别出患室性心律心律失常风险更高的个体[48]。然而,关于ARVC[36]中SCD的遗传基础独立预测值,存在相互矛盾的数据。值得注意的是,某些非桥粒突变(如TMEM43、LMNA、PLN)与特别高的SCD风险相关。

2.4 电不稳定标记 ARVC患者经常表现出心电图异常,包括右心前区导联的T波倒置(通常为V1至V3)、外周导联的低QRS电压和右心前导联的终末激活延迟(“epsilon波”)。持续性室性心动过速病史(最常见的是左束支形态)已被确定为ARVC患者发生SCD风险增加的有力预测因素[34]。一些研究还发现了电不稳定的其他标志物与SCD风险的关联,包括NSVT、频繁的室性早搏综合征[36,42-43,50-52]。

2.5 心肌纤维化和脂肪浸润 新兴数据表明,CMR研究可能为ARVC提供有价值的预后信息[53]。最近,纤维化和脂肪渗透的CMR证据与不良事件(SCD/中止的SCD,适当的ICD干预)的风险增加相关,左心室占优势和双心室形式的预后较单独右心室(RV)心肌病更差[54]。此外,CMR可用于鉴别诊断疑似心脏结节病(也可用于18F-氟脱氧葡萄糖正电子发射断层扫描成像)、心肌炎、恰加斯病或其他类似ARVC的疾病。

2.6 预防心源性猝死 已经提出了几种方法用于ARVC中初次植入ICD的风险分层。一份国际专家感知文件建议,根据SCD的既定风险因素的存在,将患者分为三组(高风险、中风险和低风险组)[55]。对于高危组(即SCD未逐、持续性室性心动过速、严重左心室/右心室功能障碍)或中风险组(存在≥1个既定心律失常风险因素)的患者,植入ICD是一种可行选择,而低风险患者(如健康基因携带者)的风险不足以保证植入ICD[55]。基于对个体心律失常风险进行定量估计的多变量模型,提出一种预测经典RV显性表型心律失常结果的计算器。它将几个与疾病相关的特征纳入逻辑回归方程,旨在提供5年和10年的评估既往无持续性室性心动过速/SCD的患者发生持续性室速、SCD/中止SCD或适当的ICD治疗风险[43]。由于这一结果可能高估了SCD的真实风险,因此设计了另一个模型预测危及生命的心律失常(SCD、中止的SCD、快速室性心动过速>250 bpm的ICD治疗),作为SCD的一个更接近的替代方案[56]。尽管该风险模型经外部验证可预测RV占主导地位的疾病的风险,但据报道低估了双心室和LV占主导地位心肌病患者的风险[57],这可能会限制其使用。此外,传统上公认和临床验证的主要危险因素(如NSVT病史、晕厥和心室收缩功能障碍的严重程度)并不能预测模型中发生危及生命的室性心律失常。根据传统风险分层标准,ESC指南建议在明确诊断为ARVC的患者中植入ICD[1-2]。计算器的使用可以在单独的基础上在共享决策中考虑[2]。ICD是预防ARVC中SCD的唯一有效选择。

由于室性心律失常在体力运动中更频繁发生,因此限制高强度运动似乎是降低心律失常风险和疾病进展的合理选择。β受体阻滞剂可作为一线药物减少心律失常负担,如果不成功,抗心律失常药物(如氟卡因、索他洛尔、胺碘酮)可被视为可变成功率[58-59]。对于耐药心律失常/重复ICD电击的患者,可考虑在有经验的中心进行导管消融,因为心律失常基质往往主要局限于心外膜下,需要采用心外膜消融方法[60]。

3 限制性心肌病、代谢性心肌病和心脏类淀粉样变性

限制性心肌病是最罕见的心肌病,在心律失常风险分层和预防性植入ICD的建议方面存在重大差距。RCM通常被认为是固有心肌功能障碍/间质纤维化和心肌内疾病的结果,但某些代谢性心肌病(如Anderson-Fabry病、血色素沉着病)和浸润性疾病(如心脏淀粉样变性、结节病)也可采用限制性表型。

结论

尽管在过去几十年中有良好的生存趋势,但心肌病患者仍会经历每年0.15%~0.7%的SCD过度风险。尽管致心律失常的风险可归因于多种因素,但无论心肌病的类型如何,都有几种因素具有特别强烈的影响,包括年龄、疾病严重程度的标志物、心肌纤维化的存在(例如CMR上的LGE)、不明原因的晕厥、电不稳定的证据和高危基因型。然而,NDLVC和不同病因或RCM的SCD预防方面,仍存在知识空白。对现有SCD风险预测模型还有进一步的循证改进和开发空间,这可能在临床实践中有助于更好地为共享决策提供信息。在许多心肌病患者中,心律失常的风险评估和初级ICD预防候选者的最佳选择有待进一步完善,这应考虑到具体的病因、基因型、年龄、临床风险因素、生活方式、对治疗的反应和ICD植入的最佳时间。

专家简介

郑刚 教授

现任泰达国际心血管病医院特聘专家,济兴医院副院长

中国高血压联盟理事,中国心力衰竭学会委员,中国老年医学会高血压分会天津工作组副组长,中国医疗保健国际交流促进会高血压分会委员

天津医学会心血管病专业委员会委员,天津医学会老年病专业委员会常委,天津市医师协会高血压专业委员会常委,天津市医师协会老年病专业委员会委员,天津市医师协会心力衰竭专业委员,天津市医师协会心血管内科医师分会双心专业委员会委员,天津市心脏学会理事,天津市心律学会第一届委员会委员,天津市房颤中心联盟常委,天津市医药学专家协会第一届心血管专业委员会委员,天津市药理学会临床心血管药理专业委员会常委,天津市中西医结合学会心血管疾病专业委员会常委

《中华临床医师杂志(电子版)》特邀审稿专家,《中华诊断学电子杂志》《心血管外科杂志(电子版)》审稿专家,《华夏医学》副主编,《中国心血管杂志》常务编委,《中国心血管病研究》杂志第四届编委,《中华老年心脑血管病杂志》《世界临床药物》《医学综述》《中国医药导报》《中国现代医生》编委

本人在专业期刊和心血管网发表文章979篇,其中第一作者790篇,参加著书11部。获天津市2005年度“五一劳动奖章和奖状”和“天津市卫生行业第二届人民满意的好医生”称号

参考文献

(上下滑动可查看)

1. Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA,et al. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J 2022;43:3997–4126.

2. Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C,et al. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J 2023;44:3503–3626. https://doi.org/10.1093/eurheartj/ehad194

3. O’Mahony C, Jichi F, Ommen SR, Christiaans I, Arbustini E, Garcia-Pavia P,et al. International external validation study of the 2014 European Society of Cardiology guidelines on sudden cardiac death prevention in hypertrophic cardiomyopathy (EVIDENCE-HCM). Circulation 2018;137:1015–1023.

4. Maron BJ, Olivotto I, Spirito P, Casey SA, Bellone P, Gohman TE, et al.Epidemiology of hypertrophic cardiomyopathy-related death. Circulation 2000;102:858–864. https://doi.org/10.1161/01.cir.102.8.858

5. Elliott PM, Gimeno Blanes JR, Mahon NG, Poloniecki JD, McKenna WJ. Relation between severity of left-ventricular hypertrophy and prognosis in patients with hypertrophic cardiomyopathy. Lancet 2001;357:420–424.

6. Minami Y, Haruki S, Yashiro B, Suzuki T, Ashihara K, Hagiwara N. Enlarged left atrium and sudden death risk in hypertrophic cardiomyopathy patients with or without atrial fibrillation. J Cardiol 2016;68:478–484.

7. Efthimiadis GK, Parcharidou DG, Giannakoulas G, Pagourelias ED, Charalampidis P, Savvopoulos G, et al. Left ventricular outflow tract obstruction as a risk factor for sudden cardiac death in hypertrophic cardiomyopathy. Am J Cardiol

2009;104:695–699. https://doi.org/10.1016/j.amjcard.2009.04.039

8. Olivotto I, Maron BJ, Montereggi A, Mazzuoli F, Dolara A, Cecchi F.Prognostic value of systemic blood pressure response during exercise in a community-based patient population with hypertrophic cardiomyopathy. J Am Coll Cardiol 1999;33:2044–2051. https://doi.org/10.1016/s0735-1097(99)00094-7

9. Sadoul N, Prasad K, Elliott PM, Bannerjee S, Frenneaux MP, McKenna WJ.Prospective prognostic assessment of blood pressure response during exercise in patients with hypertrophic cardiomyopathy. Circulation 1997;96:2987–2991.

10. Rowin EJ, Maron BJ, Carrick RT, Patel PP, Koethe B, Wells S, et al. Outcomes in patients with hypertrophic cardiomyopathy and left ventricular systolic dysfunction.JAmCollCardiol 2020;75:3033–3043.https://doi.org/10.1016/j.jacc.2020.04.045

11. Rowin EJ, Maron BJ, Haas TS, Garberich RF, Wang W, Link MS, et al. Hypertrophic cardiomyopathy with left ventricular apical aneurysm: Implications for risk stratification and management. J Am Coll Cardiol 2017;69:761–773.

12. O’Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, et al.;Hypertrophic Cardiomyopathy Outcomes Investigators. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD). Eur Heart J 2014;35:2010–2020. https://doi.org/10.1093/eurheartj/eht439

13. Monserrat L, Elliott PM, Gimeno JR, Sharma S, Penas-Lado M, McKenna WJ.Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: An independent marker of sudden death risk in young patients. J Am Coll Cardiol 2003;42:873–879. https://doi.org/10.1016/s0735-1097(03)00827-1

14. Maron BJ, Casey SA, Hurrell DG, Aeppli DM. Relation of left ventricular thickness to age and gender in hypertrophic cardiomyopathy. Am J Cardiol 2003;91:1195–1198. https://doi.org/10.1016/s0002-9149(03)00266-2

15. Spirito P, Autore C, Rapezzi C, Bernabò P, Badagliacca R, Maron MS, et al.Syncope and risk of sudden death in hypertrophic cardiomyopathy. Circulation 2009;119:1703–1710.

16. Maron BJ, Haas TS, Ahluwalia A, Murphy CJ, Garberich RF. Demographics and epidemiology of sudden deaths in young competitive athletes: From the United States National Registry. Am J Med 2016;129:1170–1177.

17. Lampert R, Olshansky B, Heidbuchel H, Lawless C, Saarel E, Ackerman M, et al.Safety of sports for athletes with implantable cardioverter-defibrillators. Circulation 2017;135:2310–2312.

18. Saberi S, Wheeler M, Bragg-Gresham J, Hornsby W, Agarwal PP, Attili A, et al.Effect of moderate-intensity exercise training on peak oxygen consumption in patients with hypertrophic cardiomyopathy: A randomized clinical trial. JAMA

2017;317:1349–1357. https://doi.org/10.1001/jama.2017.2503

19. Sedaghat-Hamedani F, Kayvanpour E, Tugrul OF, Lai A, Amr A, Haas J, et al. Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: A meta-analysis on 7675 individuals. Clin Res Cardiol 2018;107:30–41.

20. Maron MS. Family history of sudden death should be a primary indication for implantable cardioverter defibrillator in hypertrophic cardiomyopathy. Can J Cardiol 2015;31:1402–1406. https://doi.org/10.1016/j.cjca.2015.05.004

21. Gimeno JR, Tomé-Esteban M, Lofiego C, Hurtado J, Pantazis A, Mist B, et al.Exercise-induced ventricular arrhythmias and risk of sudden cardiac death in patients with hypertrophic cardiomyopathy. Eur Heart J 2009;30:2599–2605.

22. Chan RH, Maron BJ, Olivotto I, Pencina MJ, Assenza GE, Haas T, et al.Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy.

Circulation 2014;130:484–495.https://doi.org/10.1161/CIRCULATIONAHA.113.007094

23. Weng Z, Yao J, Chan RH, He J, Yang X, Zhou Y, et al. Prognostic value of LGE-CMR in HCM: A meta-analysis. JACC Cardiovasc Imaging 2016;9:1392–1402. https://doi.org/10.1016/j.jcmg.2016.02.031

24. O’MahonyC,Tome-EstebanM,LambiasePD,PantazisA,DickieS,McKennaWJ,et al. A validation study of the 2003 American College of Cardiology/European Society of Cardiology and 2011 American College of Cardiology Foundation/American Heart Association risk stratification and treatment algorithms or sudden cardiac death in patients with hypertrophic cardiomyopathy. Heart 2013;99:534–541. https://doi.org/10.1136/heartjnl-2012-303271

25. Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, et al. 2020 AHA/ACC Guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2020;76:e159–e240.

26. Nauffal V, Marstrand P, Han L, Parikh VN, Helms AS, Ingles J, et al. Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy. Eur Heart J 2021;42:3932–3944. https://doi.org/10.1093/eurheartj/ehab598

27. Norrish G, Ding T, Field E, Zió?kowska L, Olivotto I, Limongelli G, et al.Development of a novel risk prediction model for sudden cardiac death in childhood hypertrophic cardiomyopathy (HCM Risk-Kids). JAMA Cardiol 2019;4:918–927.

28. Melacini P, Maron BJ, Bobbo F, Basso C, Tokajuk B, Zucchetto M, et al. Evidence that pharmacological strategies lack efficacy for the prevention of sudden death in hypertrophic cardiomyopathy. Heart 2007;93:708–710.

29. Vriesendorp PA, Liebregts M, Steggerda RC, Schinkel AF, Willems R, Ten Cate FJ, et al. Long-term outcomes after medical and invasive treatment in patients with hypertrophic cardiomyopathy. JACC Heart Fail 2014;2:630–636.

30. Olivotto I, Oreziak A, Barriales-Villa R, Abraham TP, Masri A, Garcia-Pavia P,et al.; EXPLORER-HCM Study Investigators. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM):A randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 2020;396:759–769. https://doi.org/10.1016/S0140-6736(20)31792-X

31. Hegde SM, Lester SJ, Solomon SD, Michels M, Elliott PM, Nagueh SF, et al. Effect of mavacamten on echocardiographic features in symptomatic patients with obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol 2021;78:2518–2532.

32. de Boer RA, Heymans S, Backs J, Carrier L, Coats AJS, Dimmeler S, et al.Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: From molecular mechanisms to therapeutic targets. A position paper from the Heart

Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC). Eur J Heart Fail 2022;24:406–420.https://doi.org/10.1002/ejhf.2414

33. Pelliccia A, Sharma S, Gati S, B?ck M, B?rjesson M, Caselli S, et al. 2020 ESC Guidelines on sports cardiology and exercise in patients with cardiovascular disease. Eur Heart J 2021;42:17–96. https://doi.org/10.1093/eurheartj/ehaa605

34. Mazzanti A, Ng K, Faragli A, Maragna R, Chiodaroli E, Orphanou N, et al.Arrhythmogenic right ventricular cardiomyopathy: Clinical course and predictors of arrhythmic risk. J Am Coll Cardiol 2016;68:2540–2550.

35. Bosman LP, Sammani A, James CA, Cadrin-Tourigny J, Calkins H, van Tintelen JP, et al. Predicting arrhythmic risk in arrhythmogenic right ventricular cardiomyopathy: A systematic review and meta-analysis. Heart Rhythm 2018;15:1097–1107.

36. Agbaedeng TA, Roberts KA, Colley L, Noubiap JJ, Oxborough D. Incidence and predictors of sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy: A pooled analysis. Europace 2022;24:1665–1674.

37. Saguner AM, Vecchiati A, Baldinger SH, Rüeger S, Medeiros-Domingo A,Mueller-Burri AS, et al. Different prognostic value of functional right ventricular parameters in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circ

Cardiovasc Imaging 2014;7:230–239. https://doi.org/10.1161/CIRCIMAGING.113.000210

38. Schuler PK, Haegeli LM, Saguner AM, Wolber T, Tanner FC, Jenni R, et al.Predictors of appropriate ICD therapy in patients with arrhythmogenic right ventricular cardiomyopathy: Long term experience of a tertiary care center.PLoS One 2012;7:e39584. https://doi.org/10.1371/journal.pone.0039584

39. Chivulescu M, Lie ?H, Popescu BA, Skulstad H, Edvardsen T, Jurcut RO, et al.High penetrance and similar disease progression in probands and in family members with arrhythmogenic cardiomyopathy. Eur Heart J 2020;41:1401–1410.

40. Hulot JS, Jouven X, Empana JP, Frank R, Fontaine G. Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy.Circulation 2004;110:1879–1884.

41. Sadjadieh G, Jabbari R, Risgaard B, Olesen MS, Hauns? S, Tfelt-Hansen J,et al. Nationwide (Denmark) study of symptoms preceding sudden death due to arrhythmogenic right ventricular cardiomyopathy. Am J Cardiol 2014;113:1250–1254.

42. Corrado D, Calkins H, Link MS, Leoni L, Favale S, Bevilacqua M, et al.Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia. Circulation 2010;122:1144–1152. https://doi.org/10.1161/CIRCULATIONAHA.109.913871

43. Cadrin-Tourigny J, Bosman LP, Nozza A, Wang W, Tadros R, Bhonsale A, et al.A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2019;40:1850–1858.

44. Choudhary N, Tompkins C, Polonsky B, McNitt S, Calkins H, Mark Estes NA, et al. Clinical presentation and outcomes by sex in arrhythmogenic right ventricular cardiomyopathy: Findings from the North American ARVC Registry. J Cardiovasc Electrophysiol 2016;27:555–562. https://doi.org/10.1111/jce.12947

45. Calkins H, Corrado D, Marcus F. Risk stratification in arrhythmogenic right ventricular cardiomyopathy. Circulation 2017;136:2068–2082. https://doi.org/10.1161/CIRCULATIONAHA.117.030792

46. Ruwald AC, Marcus F, Estes NA 3rd, Link M, McNitt S, Polonsky B, et al.Association of competitive and recreational sport participation with cardiac eventsinpatientswitharrhythmogenicrightventricularcardiomyopathy:Results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2015;36:1735–1743.

47. Milting H, Klauke B, Christensen AH, Müsebeck J, Walhorn V, Grannemann S,et al. The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus. Eur Heart J

2015;36:872–881. https://doi.org/10.1093/eurheartj/ehu077

48. Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C,et al. Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members. Circ Cardiovasc Genet 2015;8:437–446. https://doi.org/10.1161/CIRCGENETICS.114.001003

49. Bhonsale A, Groeneweg JA, James CA, Dooijes D, Tichnell C, Jongbloed JD, et al. Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. Eur Heart J 2015;36:847–855.

50. BhonsaleA,JamesCA,TichnellC,MurrayB,GagarinD,PhilipsB,etal.Incidence and predictors of implantable cardioverter-defibrillator therapy in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy undergoing

implantable cardioverter-defibrillator implantation for primary prevention.J Am Coll Cardiol 2011;58:1485–1496.

51. Link MS, Laidlaw D, Polonsky B, Zareba W, McNitt S, Gear K, et al. Ventricular arrhythmias in the North American multidisciplinary study of ARVC: Predictors,characteristics, and treatment. J Am Coll Cardiol 2014;64:119–125.

52. Orgeron GM, James CA, Te Riele A, Tichnell C, Murray B, Bhonsale A, et al.Implantable cardioverter-defibrillator therapy in arrhythmogenic right ventricular dysplasia/cardiomyopathy: Predictors of appropriate therapy, outcomes, and

complications. J Am Heart Assoc 2017;6:e006242. https://doi.org/10.1161/JAHA.117.006242

53. Lie ?H, Rootwelt-Norberg C, Dejgaard LA, Leren IS, Stokke MK, Edvardsen T, et al. Prediction of life-threatening ventricular arrhythmia in patients with arrhythmogenic cardiomyopathy: A primary prevention cohort study.JACC Cardiovasc Imaging 2018;11:1377–1386. https://doi.org/10.1016/j.jcmg.2018.05.017

54. Aquaro GD, De Luca A, Cappelletto C, Raimondi F, Bianco F, Botto N, et al.Prognostic value of magnetic resonance phenotype in patients with arrhythmogenic right ventricular cardiomyopathy. J Am Coll Cardiol 2020;75:2753–2765.

55. Corrado D, Wichter T, Link MS, Hauer RN, Marchlinski FE, Anastasakis A,et al. Treatment of arrhythmogenic right ventricular cardiomyopathy/dysplasia:Aninternationaltaskforceconsensusstatement.Circulation2015;132:441–453.

https://doi.org/10.1161/CIRCULATIONAHA.115.017944

56. Cadrin-Tourigny J,Bosman LP,Wang W,Tadros R,Bhonsale A,Bourfiss M, et al. Sudden cardiac death prediction in arrhythmogenic right ventricular cardiomyopathy:A multinational collaboration.Circ Arrhythm Electrophysiol 2021;14:e008509. https://doi.org/10.1161/CIRCEP.120.008509

57. Casella M, Gasperetti A, Gaetano F, Busana M, Sommariva E, Catto V,et al. Long-term follow-up analysis of a highly characterized arrhythmogenic cardiomyopathy cohort withical and non-classical phenotypes – A real-world assessment of a novel prediction model: Does the subtype really matter. Europace 2020;22:797–805.

58. Ermakov S, Gerstenfeld EP, Svetlichnaya Y, Scheinman MM. Use of flecainide in combination antiarrhythmic therapy in patients with arrhythmogenic right ventricularcardiomyopathy.HeartRhythm 2017;14:564–569.

59. Cappelletto C, Gregorio C, Barbati G, Romani S, De Luca A, Merlo M,et al. Antiarrhythmic therapy and risk of cumulative ventricular arrhythmias in arrhythmogenic right ventricle cardiomyopathy. Int J Cardiol 2021;334:58–64.

60. Assis FR, Tandri H. Epicardial ablation of ventricular tachycardia in arrhythmo genic right ventricular cardiomyopathy.

Card Electrophysiol Clin2020;12:329–343.

声明:本文仅供医疗卫生专业人士了解最新医药资讯参考使用,不代表本平台观点。该信息不能以任何方式取代专业的医疗指导,也不应被视为诊疗建议,如果该信息被用于资讯以外的目的,本站及作者不承担相关责任。

(来源:《国际循环》编辑部)

0 阅读:0