梗阻性肥厚型心肌病治疗目标中国专家共识

一、oHCM的疾病生理机制

分子病理学研究揭示，HCM 本质上是一种肌小节病，主要由编码肌小节蛋白基因的致病性变异所致，尤以肌球蛋白重链 7 (myosin heavy chain 7, MYH7) 和肌球蛋白结合蛋白 C3 (myosin binding protein C3, MYBPC3) 基因变异最为常见。在分子层面，这些变异可以直接改变肌小节蛋白的结构、表达及功能：一方面使肌球蛋白三磷酸腺苷 (adenosine triphosphate, ATP) 酶活性、肌小节功率输出及能量消耗增加，破坏肌球蛋白头部超级松弛构象 (super- relaxed state, SRX) 与易结合肌动蛋白的活化态之间的平衡，导致更多肌球蛋白头参与或准备参与肌动-肌球蛋白横桥循环，形成心肌过度收缩、舒张受损及能量利用效率下降；另一方面，部分 MYBPC3 基因变异还可以通过截短蛋白降解和单倍剂量不足进一步削弱肌小节稳态。上述初始缺陷继而激活钙依赖和应激反应相关信号通路，如丝裂原激活的蛋白激酶 (mitogen-activated protein kinase, MAPK)、转化生长因子-β (transforming growth factor-β, TGF-β) 等，驱动心肌细胞肥大、肌纤维排列紊乱和间质纤维化，最终形成左心室肥厚、舒张功能障碍[10-11]。

HCM的病理生理机制包括动态左心室流出道梗阻（left ventricular outflow tract obstruction，LVOTO）、二尖瓣反流、舒张功能障碍、心肌缺血、心律失常、代谢和能量异常，以及潜在的自主神经功能障碍。HCM病变多为不对称肥大，常累及室间隔和游离壁。肥厚室间隔向左侧心室膨出，导致

左心室流出道狭窄、血流速度加快，以及二尖瓣前叶和腱索向前运动(systolic anterior motion, SAM)，从而造成动态 LVOTO[12]。

HCM的临床表现差异较大，可以从长期无症状到以心脏性猝死(sudden cardiac death, SCD)为首发表现；常见症状包括呼吸困难(约89%，多为劳力性)、疲劳(约89%)、胸痛(约40%，多为劳力性)、心悸(约30%)及晕厥(15%~25%)等[5,13]，儿童或青少年时期确诊的HCM患者症状更多，预后可能更差[14-15]。在诊断方面，在排除了异常负荷及其他可能导致心室肥厚的因素后，若左心室最大室壁厚度≥15 mm，即可诊断为HCM；对于家族性HCM中先证者之外的家庭成员，或经基因检测确认为携带HCM致病性基因变异的个体，舒张末期最大心室壁厚度≥13 mm也可以诊断为HCM[8]。依据血流动力学特征可将其分为oHCM和nHCM，oHCM指静息时或激发后峰值左心室流出道压差(left ventricular outflow tract gradient, LVOTG) ≥ 30 mmHg (1 mmHg=0.133 kPa)，包括静息性和激发性(隐匿性)梗阻；nHCM指静息时或激发后峰值LVOTG均<30 mmHg[8, 16-17]。

二、oHCM评估指标的临床意义和临床实践可及性

1. LVOTG：是指左心室收缩时，血液从左心室流出道射向主动脉过程中产生的压差。静息时或激发后峰值LVOTG≥30 mmHg定义为存在LVOTO，可以用于区分oHCM与nHCM。对于静息时下降值LVOTG<30 mmHg的患者，应进行激发试验以排查隐匿性梗阻，在进行激发/负荷超声心动图检查时，必须严格把握相关禁忌证。评估手段首选无创的Valsalva试验，若有症状但Valsalva结果阴性，则进一步行运动负荷超声心动图；在Valsalva激发或运动负荷试验阴性或未达到目标状态时可亚硝酸异戊酯吸入负荷超声心动图[8, 18]。激发后峰值LVOTG≥30 mmHg提示存在隐匿性梗阻。LVOTO可以导致左心室收缩压升高、心肌耗氧量增加、心肌缺血、舒张功能不全、二尖瓣反流（继发于SAM现象），这是导致oHCM�者出现呼吸困难、胸痛、晕厥等症状的主要原因，提示需要启动药物治疗[8]。LVOTO也是oHCM患者不良预后的独立预测因素，此类患者心力衰竭（心衰）进展或死于心衰/卒中的风险显著高于nHCM患者[6, 19-20]。峰值LVOTG≥50 mmHg提示存在重度的血流动力学障碍，严重影响心输出量与冠状动脉灌注，此数值是

中华心力衰竭和心肌病杂志 2026 年 3 月第 10 卷第 1 期 Chin J Heart Fail & Cardiomyopathy, March 2026, Vol. 10, No. 1

5

决定是否需行室间隔减容术(septal reduction therapy, SRT)的核心血流动力学标准；同时，LVOTG>50 mmHg与更高的不良事件发生风险(如SCD、心衰住院)密切相关[21]。研究表明，随着梗阻程度的加重，患者不良预后风险相应升高，而LVOTG每降低20 mmHg，可以显著改善临床结局，全因死亡或心脏移植的风险约降低24%，SCD、植入式心脏转复除颤器(implantable cardioverter defibrillator, ICD)适当放电或室颤的风险约降低36%[21]。LVOTG的评估主要依赖于超声心动图检查技术。需注意的是，LVOTG作为一个血流动力学参数，具有动态变异性，其测量结果易受患者即时生理状态(如负荷条件、心律)及检测环境等因素影响，需要强调其测量的一致性与可比性。

2. 纽约心脏协会(New York Heart Association, NYHA)心功能分级：是一种广泛应用的临床工具，可以用于评估 oHCM 患者心功能状态及其日常生活活动影响。该分级系统基于患者的主观症状，旨在动态评估其功能状态随疾病进程或治疗干预而发生的变化，有助于指导治疗决策(如药物选择与手术时机判断)，而非作为具体的疾病诊断标准。在 oHCM 的预后评估中，NYHA 心功能分级是一个强效且独立的预测因素，分级越高，提示患者预后越差。研究证实，与 NYHA 心功能分级 II 级患者比较，NYHA 心功能分级 I 级患者发生复合心血管终点事件的风险显著降低 41%[22]。进一步分析表明，即使是 NYHA 心功能分级中相对轻微的差异(如 I 级与 II 级之间)，也可以有效预测患者在中长期随访中发生不良心血管事件的风险。然而，NYHA 心功能分级本质上是一种基于患者主观报告的功能性评价指标，其评估结果易受个体感知差异及评估者解释偏差的影响。尽管具有较高的临床实用性，但其敏感性相对有限，在识别早期或轻微功能变化方面可能存在不足。

3. 峰值摄氧量(peak oxygen uptake, pVO₂)：是一项通过心肺运动试验(cardiopulmonary exercise testing, CPET)测量的功能性容量指标，反映患者在最大运动状态下身体摄取和利用氧气的能力，是评估心肺功能的重要参数。pVO₂测试的核心是采用递增负荷运动方案，通过气体代谢分析系统直接测定呼吸气体交换参数。测试的诊断终点包括：出现明显症状(如呼吸困难、心绞痛、晕厥等)、LVOTG≥50 mmHg、异常血压反应(运动中出现低血压或血压上升不良)，以及心电图显示ST段明显改

变等。终止标准涵盖：患者无法耐受继续运动；收缩压/舒张压升高至220/120 mmHg以上；出现症状性低血压（收缩压较峰值下降≥40 mmHg）；发生心律失常（包括室上性心动过速、心房颤动、频发或复杂性室性异位心律）[18]。pVO₂不仅是评估运动耐量的核心指标，更是oHCM患者病理生理状态和远期预后的重要综合预测因素。研究显示，pVO₂<18 mL·kg $^{-1}$·min $^{-1}$的oHCM患者的全因死亡率及严重症状发生率均显著高于pVO₂≥18 mL·kg $^{-1}$·min $^{-1}$的患者[23]。一项纳入1898例HCM患者的大型回顾性研究进一步证实，pVO₂每提升1 mL·kg $^{-1}$·min $^{-1}$，患者发生不良预后的风险约降低21%[24]。pVO₂作为一个客观、可量化、无安慰剂效应的研究指标，可以减少主观判断误差，并能综合反映oHCM的多重病理机制并独立预测患者预后[25]。但是，目前缺乏pVO₂统一阈值标准用于临床决策，其客观性、预后关联性和作为替代终点的潜力使其在新型药物治疗（如CMIs）的临床试验中被用作主要终点，以评估药物对运动能力的改善效果[26-27]。

4. N末端B型利钠肽原(N terminal-pro B-type natriuretic peptide, NT-proBNP)：是由心肌细胞在受到压力及容量负荷增高时释放，是反映心脏压力负荷、心肌壁张力及心衰严重程度的关键生物标志物。其水平与HCM患者舒张功能障碍和后期收缩功能障碍密切相关，与超声心动图参数$E/e'$比值呈强关联，可以作为评估HCM患者心衰风险及预后的重要生物学指标[28]。NT-proBNP升高提示HCM患者存在左心室舒张功能不全，并与不良心血管结局相关。也有研究显示，B型利钠肽(B type natriuretic peptide, BNP)高水平(≥200 pg/mL)的HCM患者心血管事件风险显著高于BNP<200 pg/mL的HCM患者[29]。该指标检测便捷、成本较低、标准化程度高，在临床实践中具有较好的可及性[30]。

5. 心脏结构指标：包括左心室质量指数(left ventricular mass index, LVMI)、左心室壁厚度(left ventricular wall thickness, LVWT)和左心房容积指数(left atrial volume index, LAVI)等，可以反映HCM的疾病进展，这三项心脏结构指标均具备成熟的测量流程和正常参考值，现代超声心动图和心脏磁共振(cardiac magnetic resonance, CMR)检查设备均配备专用的测量和计算软件，临床获取简便、可重复性强。LVMI、LVWT和LAVI不仅是HCM诊断体系中的基础部分，也为评估病情演变、

· 6 ·

中华心力衰竭和心肌病杂志 2026年3月第10卷第1期 Chin J Heart Fail & Cardiomyopathy, March 2026, Vol. 10, No. 1

治疗反应及预后风险提供了稳定的解剖学参照基准。其中，LVMI在HCM诊断中起到支持与量化作用，特别是对于非均匀性肥厚或局灶性肥厚的患者，LVMI能更全面地评估总体心肌肥厚程度，避免因单一节段测量而漏诊[31]，高LVMI是HCM疾病进展（如发展为终末期心衰）和全因死亡的独立的独立预测因子[32-33]。LVWT是直接诊断指标，对于无其他原因可解释的、非对称性的LVWT≥15 mm（或有明确家族史者≥13 mm）即可诊断HCM[31-32]，极重度肥厚（LVWT≥30 mm）是最强的SCD风险预测因子之一，与恶性室性心律失常风险显著相关。LAVI虽然为非诊断性指标，但具有重要提示意义，显著增大的左心房（LAVI>34 mL/m $^{2}$）在oHCM患者中极为常见，提示存在明显的舒张功能不全和二尖瓣反流，可以支持HCM的诊断，并需进一步评估梗阻情况[34]；LAVI>34 mL/m $^{2}$显著增加新发房颤风险，而房颤是导致卒中、心衰加重和死亡的重要原因[34]。

6. 堪萨斯城心肌病问卷 (Kansas City Cardiomyopathy Questionnaire, KCCQ) 问卷：作为患者报告结局 (patient-reported outcomes, PROs) 的核心工具，涵盖症状频率、体力限制、社会功能及生活质量四大维度，提供全面健康状态评估。KCCQ 能敏感捕捉临床变化，与患者整体印象变化量表高度一致，5、10、20 分变化分别对应小、中、大程度临床改善，所有评分均转换成 100 分制，该评分范围为 0~100 分，分数越高代表健康状况越好[35]。KCCQ 评分各维度与 NYHA 心功能分级、pVO₂ 等标准指标显著相关，尤其在症状与功能评估中表现出强相关性[35]。KCCQ 评分能够有效且敏感地捕捉 HCM 对

患者生活的影响，并与临床事件的发生在时间上呈现显著相关性[36]。KCCQ评分已被认可为临床结局评估工具，并推荐作为量化医疗质量的评价指标。

7. SCD风险评估：SCD是oHCM患者的重要致死原因，SCD风险评估是oHCM患者临床管理中的核心环节。对于确诊或疑似oHCM患者，建议在首次诊断时及之后每1~2年系统进行无创性SCD风险评估。此外，可考虑每3~5年重复一次CMR检查，以协助更新危险分层[37]。目前常用的风险评估方法主要包括两种：一是采用欧洲心脏病学会(European Society of Cardiology, ESC)心肌病指南HCM Risk-SCD模型，个体化计算患者5年内SCD风险[38]，多部指南或共识推荐该模型用于HCM患者SCD的风险预测。二是依据美国心脏协会/美国心脏病学会(American Heart Association/American College of Cardiology, AHA/ACC)推荐的SCD相关危险因素来指导ICD植入[39]。HCM的SCD相关危险因素主要为：发病年龄早、SCD家族史、不明原因晕厥、运动血压反应异常、非持续性室性心动过速、左心房扩大、严重左心室肥厚、LVOTO、左心室射血分数(left ventricular ejection fraction, LVEF)<50%、左心室心尖室壁瘤、CMR出现广泛的晚期钆增强(late gadolinium enhancement, LGE)、致病基因变异[37]。

三、现有治疗方法

(一)β受体阻滞剂

β受体阻滞剂是目前 oHCM 的一线治疗药物，用于 oHCM 治疗已经有近 60 年历史，其疗效因患者

(二)CMIs

CMIs 的出现标志着oHCM药物治疗从传统的对症处理模式,进入了全新的以病理生理学核心的靶向治疗时代。这类药物通过直接作用于心肌收缩的分子机制,从根本上减轻LVOTO,改善oHCM患者的症状、功能状态及生活质量,并可能对疾病的长期自然病程产生积极影响。CMIs作为新一代靶向药物,不仅能够强效降低LVOTG和缓解症状,还可能通过针对病理生理机制改善心脏重构[45],推动oHCM治疗进入更加精细化的时代。

1. 玛伐凯泰:是首个在中国获批上市的可以应用于oHCM的CMI。其通过变构抑制心肌肌球蛋白,稳定其SRX,改善SRX/无序松弛状态(disordered relaxed state, DRX)平衡,从而减少横桥循环、降低心肌收缩力[11](图1)。EXPLORER-HCM研究[26]是一项3期RCT,评估了玛伐凯泰在症状性oHCM

 [注:ADP为二磷酸腺苷;ATP为三磷酸腺苷;DRX为无序松弛状态;Pi为无机磷酸盐;SRX为超松弛状态;正常的横桥循环包括:①弱结合状态:肌球蛋白头(已结合ATP并水解为ADP+Pi)与肌动蛋白形成弱结合状态;②产力冲程1:释放Pi,弱结合状态转变为强结合状态,并启动产力冲程;肌球蛋白的轻链结合域发生70°旋转,产生4nm的位移,实现化学能向机械力的初步转换;③产力冲程2:ADP释放,轻链结合域在启动1的基础上进一步旋转,产生额外2nm的位移,完成整个产力冲程的机械运动,该步骤肌球蛋白与细胞丝保持强结合态;④解离:新的ATP分子结合到肌球蛋白头上,迅速导致其与肌动蛋白的解离;⑤复位:ATP水解为ADP+Pi,肌球蛋白头“上弦”复位,准备下一个循环。玛伐凯泰使肌球蛋白转变为节能但可募集的SRX状态,降低横桥形成的概率,减轻心肌过度收缩。阿夫凯泰则通过减缓Pi释放,稳定肌球蛋白与肌动蛋白的弱结合,阻止肌球蛋白进入产力状态,从而减少产力横桥的数量,收缩力低(结合态和解离态分别用黄色和红色模块表示,产力形成的相关步骤用红色箭头标示)]

(三)其他药物

1. 非二氢吡啶类钙通道阻滞剂(calcium channel blockers, CCB):如维拉帕米或地尔硫草可以用于治疗有症状的oHCM患者,尤其当$\beta$受体阻滞剂禁忌或不耐受时,短期研究显示其能改善症状和运动能力[57-58]。然而,这些药物在心衰或LVOTG显著升高(>100 mm Hg)患者中需谨慎使用,因其可能引发肺水肿[59],且缺乏RCTs数据支持其长期疗效。

2. 丙吡胺:作为I型抗心律失常药,具有负性肌力作用,可以用于对一线治疗反应不佳的oHCM患者,回顾性研究表明其与β受体阻滞剂或非二氢吡啶类CCB联用可以降低LVOTG并改善症状[60-61]。但是,丙吡胺需监测校正心电图QT间期,可能引起抗胆碱能副作用,其疗效主要基于回顾性数据,缺乏前瞻性RCTs验证[62]。此类药物虽有一定疗效,但是仍存在安全性顾虑和证据等级有限的局限性。

(四)SRT

1.外科室间隔心肌切除术(surgical septal myectomy, SSM):特别是改良扩大的 Morrow 手术,是解除oHCM患者LVOTO最直接、最有效的治疗方式。该手术通过切除肥厚的室间隔心肌,扩大左心室流出道,可同时处理并存的二尖瓣病变、室壁瘤等其他需外科干预的病变[63-64]。对于有症状且经最大耐受药物治疗后,静息或激发后LVOTG仍≥50mmHg的患者,推荐在经验丰富的HCM中心进行SSM以缓解梗阻、改善症状[8]。其主要优势在于解除梗阻彻底、疗效持久[65]。然而,SSM作为开胸手术,专业技术及经验要求高。数据显示,医院SSM手术经验不足与术后更差的结局相关,包括更高的死亡率、更长的住院时间和更高的费用;美国SSM围术期平均死亡率约为5.2%,低手术量的中心则可能高达15.6%[66]。SSM最常采用经主动脉入路,术野局限,空间深窄,如同隧道钻孔,对术者经验要求极高;目前中国仅少数大型心脏外科中心

能常规开展[67]。

2. 经皮腔内室间隔心肌消融术(percutaneous transluminal septal myocardial ablation, PTSMA):是一种介入治疗方式,通过在导管室内将无水乙醇选择性注入供应肥厚室间隔的冠状动脉间隔支,造成靶区域心肌梗死、变薄,从而减轻 $LVOTO^{[68]}$。PTSMA尤其适用于存在外科手术禁忌证或外科手术风险较高的有症状的oHCM患者[8]。其优势在于微创、无需开胸和体外循环,患者恢复较快。临床证据表明其能有效降低LVOTG、改善症状[68-69]。但PTSMA的总体疗效逊于SSM,且无法同期处理其他心脏结构异常(如二尖瓣修复)[70]。其主要弊端包括房室传导阻滞发生率较高(约7%~20%),部分患者需要植入心脏永久起搏器,且约7%~20%的患者可能因梗阻解除不充分而需要重复消融或最终接受SSM,长期疗效不佳[68-71]。

SRT是治疗药物难治性oHCM的有效方法,其成功高度依赖患者的特定解剖条件;手术相关并发症风险较高,如传导阻滞、医源性损伤等。疗效与安全性严格取决于医疗中心的经验水平;目前国内成熟治疗中心有限,患者可及性不足;且术后均面临不同程度的恢复负担与长期管理需求,需在经验丰富的专科中心经严格评估后个体化实施。

(五)小结

症状性oHCM首选无血管扩张作用的β受体阻滞剂;无效或不耐受时改用非二氢吡啶类CCB;症状仍持续者,考虑加用CMIs;若β受体阻滞剂、CCB或丙吡胺不耐受或禁忌,CMIs亦可单药应用,联用时应重点警惕心衰风险,需严密进行超声心动图监测。同类CMIs目前无联用依据。不同治疗方案的效果、安全性与可及性见表2。

四、治疗目标

随着对oHCM病理生理机制认识的不断深入以及靶向药物的相继问世,其临床治疗目标也亟待进一步更新与细化。从基于传统药物(如β受体阻滞剂、非二氢吡啶类CCB、丙吡胺等)的“缓解临床症状”的治疗目标[8],演进为以CMIs等靶向药物为核心、更具阶梯性、精准量化和可操作性的三段式治疗目标体系(图2)。这一新体系旨在通过阶段性血流动力学改善,最终实现疾病的深度控制和完全缓解。

第一阶段的目标是获得血流动力学控制[21,86],旨在使患者实现激发后LVOTG<50mmHg,短期临床稳定性显著提高,进入以药物治疗为主的长期管

· 10 ·

中华心力衰竭和心肌病杂志2026年3月第10卷第1期 Chin J Heart Fail & Cardiomyopathy, March 2026, Vol. 10, No. 1

参考文献

[1] Butzner M, Aronitz E, Cameron H, et al. An evidence review and gap analysis for obstructive hypertrophic cardiomyopathy[J]. BMC Cardiovasc Disord, 2024, 24 (1): 416. DOI: 10.1186/s12872-024-04084-7.

[2] Bai Y, Zheng JP, Lu F, et al. Prevalence, incidence and mortality of hypertrophic cardiomyopathy based on a population cohort of 21.9 million in China [J]. Sci Rep, 2022, 12 (1): 18799. DOI: 10.1038/s41598-022-20042-9.

[3] Butzner M, Maron M, Sarocco P, et al. Clinical diagnosis of hypertrophic cardiomyopathy over time in the United States (a population-based claims analysis) [J]. Am J Cardiol, 2021, 159: 107-112. DOI: 10.1016/j.amjcard. 2021.08.024.

[4] Maron MS, Hellawell JL, Lucove JC, et al. Occurrence of clinically diagnosed hypertrophic cardiomyopathy in the United States [J]. Am J Cardiol, 2016, 117 (10): 1651-1654. DOI: 10.1016/j.amjcard.2016.02.044.

[5] Zaiser E, Sehnert AJ, Duenas A, et al. Patient experiences with hypertrophic cardiomyopathy: a conceptual model of symptoms and impacts on quality of life [J]. J Patient Rep Outcomes, 2020, 4 (1): 102. DOI: 10.1186/s41687-020-00269-8.

[6] Maron MS, Olivotto I, Betocchi S, et al. Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy [J]. N Engl J Med, 2003, 348 (4): 295-303. DOI: 10.1056/NEJMoa021332.

[7] Desai NR, Sutton MB, Xie J, et al. Clinical outcomes, resource utilization, and treatment over the disease course of symptomatic obstructive hypertrophic cardiomyopathy in the United States [J]. Am J Cardiol, 2023, 192: 16-23. DOI: 10.1016/j.amjcard.2022.12.030.

[8] 国家心血管病专家委员会心力衰竭专业委员会, 中国医师协会心力衰竭专业委员会, 中华医学会心血管分会心力衰竭学组, 等. 中国肥厚型心肌病指南2022[J]. 中华心力衰竭和心肌病杂志(中英文), 2022, 6 (2): 26. DOI: 10.3760/cma.j.cn1101460-20220805-00070.

[9] 曹博涵, 吴光哲. 肥厚型心肌病研究进展[J]. 临床军医杂志, 2020, 48 (4): 469-471, 474. DOI: 10.16680/j.1671-3826.2020.04.42.

[10] Marian AJ, Braunwald E. Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy [J]. Circ Res, 2017, 121 (7): 749-770. DOI: 10.1161/CIRCRESAHA.117.311059.

[11] Ostrominski JW, Guo R, Elliott PM, et al. Cardiac myosin inhibitors for managing obstructive hypertrophic cardiomyopathy: JACC: Heart Failure state-of-the-art review [J]. JACC Heart Fail, 2023, 11 (7): 735-748. DOI: 10.1016/j.jchf.2023.04.018.

[12] Xu W, Zhu F, Zhang Y, et al. An overview of the treatments for hypertrophic cardiomyopathy [J]. Front Cardiovasc Med, 2024, 11: 1387596. DOI: 10.3389/fcvm.2024.1387596.

[13] Hu T, Wang T, Zhang X. Palpitation was associated with clinical outcomes in patients with hypertrophic cardiomyopathy [J]. Sci Rep, 2020, 10 (1): 14935. DOI: 10.1038/s41598-020-71797-y.

[14] Yuan W, Jia Z, Li J, et al. The clinical profile, genetic basis and survival of childhood cardiomyopathy: a single-center retrospective study [J]. Eur J Pediatr, 2024, 183 (3): 1389-1401. DOI: 10.1007/s00431-023-05358-6-

[15] Marston NA, Han L, Olivotto I, et al. Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy [J]. Eur Heart J, 2021, 42 (20): 1988-1996. DOI: 10.1093/eurheartj/ehab148.

[16] Ommen SR, Ho CY, Asif IM, et al. 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the management of hypertrophic cardiomyopathy: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice

中华心力衰竭和心肌病杂志 2026年3月第10卷第1期 Chin J Heart Fail & Cardiomyopathy, March 2026, Vol. 10, No. 1

· 13 ·

Guidelines[J]. Circulation, 2024, 149 (23): e1239-e1311. DOI: 10.1161/CIR.0000000000001250.

[17] Rowin EJ, Maron BJ, Olivotto I, et al. Role of exercise testing in hypertrophic cardiomyopathy [J]. JACC Cardiovasc Imaging, 2017, 10 (11): 1374-1386. DOI: 10.1016/j.jcmg.2017.07.016.

[18] 中国超声心动图学会，中华医学会超声医学分会，国家超声诊断专业质控中心，等. 肥厚型心肌病激发/负荷超声心动图临床应用指南(2024版)[J]. 中华超声影像学杂志，2024，33 (8): 645-658. DOI: 10.3760/cma. j. cn131148-20240429-00259.

[19] Maron BJ, Maron MS, Wigle ED, et al. The 50-year history, controversy, and clinical implications of left ventricular outflow tract obstruction in hypertrophic cardiomyopathy from idiopathic hypertrophic subaortic stenosis to hypertrophic cardiomyopathy: from idiopathic hypertrophic subaortic stenosis to hypertrophic cardiomyopathy [J]. J Am Coll Cardiol, 2009, 54 (3): 191-200. DOI: 10.1016/j.jacc. 2008.11.069.

[20] Autore C, Bernabo P, Barilla CS, et al. The prognostic importance of left ventricular outflow obstruction in hypertrophic cardiomyopathy varies in relation to the severity of symptoms [J]. J Am Coll Cardiol, 2005, 45(7): 1076-1080. DOI: 10.1016/j.jacc.2004.12.067.

[21] Elliott PM, Gimeno JR, Tome MT, et al. Left ventricular outflow tract obstruction and sudden death risk in patients with hypertrophic cardiomyopathy [J]. Eur Heart J, 2006, 27 (16): 1933-1941. DOI: 10.1093/eurheartj/ehl041.

[22] Ahluwalia M, Liu J, Olivotto I, et al. The clinical trajectory of NYHA functional class I patients with obstructive hypertrophic cardiomyopathy [J]. JACC Heart Fail, 2025, 13 (2): 332-343. DOI: 10.1016/j.jchf.2024.09.008.

[23] Sorajja P, Allison T, Hayes C, et al. Prognostic utility of metabolic exercise testing in minimally symptomatic patients with obstructive hypertrophic cardiomyopathy [J]. Am J Cardiol, 2012, 109 (10): 1494-1498. DOI: 10.1016/j.amjcard.2012.01.363.

[24] Coats CJ, Rantell K, Bartnik A, et al. Cardiopulmonary exercise testing and prognosis in hypertrophic cardiomyopathy [J]. Circ Heart Fail, 2015, 8(6): 1022-1031. DOI: 10.1161/circheartfailure.114.002248.

[25] Butzner M, Kinyik-Merena C, Aguiar M, et al. The prognostic value of peak oxygen uptake in obstructive hypertrophic cardiomyopathy: a literature review to inform economic model development [J]. J Med Econ, 2024, 27 (1): 817-825. DOI: 10.1080/13696998.2024. 2367920.

[26] Olivotto I, Oreziak A, Barriales-Villa R, et al. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial [J]. Lancet, 2020, 396 (10253): 759-769. DOI: 10.1016/S0140-6736 (20)31792-X.

[27] Coats CJ, Maron MS, Abraham TP, et al. Exercise capacity in patients with obstructive hypertrophic cardiomyopathy: SEQUOIA-HCM baseline characteristics and study design[J]. JACC Heart Fail, 2024, 12 (1): 199-215. DOI: 10.1016/j.jchf.2023.10.004.

[28] Chevalier C, Wendner M, Suling A, et al. Association of NT-proBNP and hs-cTnT with imaging markers of

diastolic dysfunction and focal myocardial fibrosis in hypertrophic cardiomyopathy [J]. Life (Basel), 2022, 12 (8).1241. DOI: 10.3390/life12081241.

[29] Kubo T, Kitaoka H, Okawa M, et al. Combined measurements of cardiac troponin I and brain natriuretic peptide are useful for predicting adverse outcomes in hypertrophic cardiomyopathy [J]. Circ J, 2011, 75 (4): 919-926. DOI: 10.1253/circj.cj-10-0782.

[30] Coats CJ, Masri A, Barriales-Villa R, et al. Cardiac biomarkers and effects of aficanten in obstructive hypertrophic cardiomyopathy: the SEQUOIA-HCM trial [J]. Eur Heart J, 2024, 45 (42): 4464-4478. DOI: 10.1093/eurhearti/ehae590.

[31] Tower-Rader A, Kramer CM, Neubauer S, et al. Multimodality imaging in hypertrophic cardiomyopathy for risk stratification [J]. Circ Cardiovasc Imaging, 2020, 13 (2): e009026.DOI:10.1161/CIRCIMAGING.119.009026.

[32] Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC Guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines [J]. Circulation, 2020, 142 (25): e558-e631. DOI: 10.1161/CIR. 0000000000000937.

[33] Authors/Task Force members, Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) [J]. Eur Heart J, 2014, 35 (39): 2733-2779. DOI: 10.1093/eurheartj/ehu284.

[34] Debonnaire P, Joyce E, Hiemstra Y, et al. Left atrial size and function in hypertrophic cardiomyopathy patients and risk of new-onset atrial fibrillation [J]. Circ Arrhythm Electrophysiol, 2017, 10 (2): e004052. DOI: 10.1161/CIRCEP.116.004052.

[35] Nassif M, Fine JT, Dolan C, et al. Validation of the Kansas City Cardiomyopathy Questionnaire in symptomatic obstructive hypertrophic cardiomyopathy [J]. JACC Heart Fail, 2022, 10 (8): 531-539. DOI: 10.1016/j.jchf. 2022. 03.002.

[36] Spertus JA, Jones PG, Sandhu AT, et al. Interpreting the Kansas City Cardiomyopathy Questionnaire in clinical trials and clinical care: JACC state-of-the-art review [J]. J Am Coll Cardiol, 2020, 76 (20): 2379-2390. DOI: 10.1016/j.jacc.2020.09.542.

[37] Nagueh SF, Phelan D, Abraham T, et al. Recommendations for multimodality cardiovascular imaging of patients with hypertrophic cardiomyopathy: an update from the American Society of Echocardiography, in collaboration with the American Society of Nuclear Cardiology, the Society for Cardiovascular Magnetic Resonance, and the Society of Cardiovascular Computed Tomography [J]. J Am Soc Echocardiogr, 2022, 35 (6): 533-569. DOI: 10.1016/j.echo.2022.03.012.

[38] O'Mahony C, Jichi F, Pavlou M, et al. A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD) [J]. Eur Heart J, 2014, 35 (30): 2010-2020. DOI: 10.1093/eurheartj/eht439.

[39] Maron MS, Rowin EJ, Wessler BS, et al. Enhanced

· 14 ·

中华心力衰竭和心肌病杂志 2026年3月第10卷第1期 Chin J Heart Fail & Cardiomyopathy, March 2026, Vol. 10, No. 1

American College of Cardiology/American Heart Association strategy for prevention of sudden cardiac death in high-risk patients with hypertrophic cardiomyopathy [J]. JAMA Cardiol, 2019, 4 (7): 644-657. DOI: 10.1001/jamacardio.2019.1391.

[40] Harrison DC, Braunwald E, Glick G, et al. Effects of beta adrenergic blockade on the circulation with particular reference to observations in patients with hypertrophic subaortic stenosis [J]. Circulation, 1964, 29: 84-98. DOI: 10.1161/01.cir.29.1.84.

[41] Cohen LS, Braunwald E. Chronic beta adrenergic receptor blockade in the treatment of idiopathic hypertrophic subaortic stenosis [J]. Prog Cardiovasc Dis, 1968, 11 (3): 211-221. DOI: 10.1016/0033-0620(68)90011-x.

[42] Adelman AG, Shah PM, Gramiak R, et al. Long-term propranolol therapy in muscular subaortic stenosis [J]. Br Heart J, 1970, 32 (6): 804-811. DOI: 10.1136/hrt. 32.6. 804.

[43] Stenson RE, Flamm MD Jr, Harrison DC, et al. Hypertrophic subaortic stenosis. Clinical and hemodynamic effects of long-term propranolol therapy [J]. Am J Cardiol, 1973, 31 (6): 763-773. DOI: 10.1016/0002-9149(73)90012-x.

[44] Dybro AM, Rasmussen TB, Nielsen RR, et al. Randomized trial of metoprolol in patients with obstructive hypertrophic cardiomyopathy [J]. J Am Coll Cardiol, 2021, 78 (25): 2505-2517. DOI: 10.1016/j.jacc.2021.07.065.

[45] Awad K, Pereyra Pietri M, Farina JM, et al. Efficacy of pharmacological therapies in reducing outflow tract obstruction in patients with obstructive hypertrophic cardiomyopathy: a systematic review and meta-analysis [J]. Eur Heart J Cardiovasc Pharmacother, 2025, 11 (5): 469-482. DOI: 10.1093/ehjcvp/pvaf036.

[46] Barrick SK, Greenberg MJ. Cardiac myosin contraction and mechanotransduction in health and disease [J]. J Biol Chem, 2021, 297 (5): 101297. DOI: 10.1016/j.jbc.2021. 101297.

[47] Tian Z, Li L, Li X, et al. Effect of mavacanten on Chinese patients with symptomatic obstructive hypertrophic cardiomyopathy: the EXPLORER-CN randomized clinical trial[J]. JAMA Cardiol, 2023, 8 (10): 957-965. DOI: 10.1001/jamacardio.2023.3030.

[48] Garcia-Pavia P, Oreziak A, Masri A, et al. Long-term effect of mavacamten in obstructive hypertrophic cardiomyopathy [J]. Eur Heart J, 2024, 45 (47): 5071-5083. DOI: 10.1093/eurheartj/ehae579.

[49] Desai MY, Owens A, Geske JB, et al. Myosin inhibition in patients with obstructive hypertrophic cardiomyopathy referred for septal reduction therapy [J]. J Am Coll Cardiol, 2022, 80 (2): 95-108. DOI: 10.1016/j.jacc.2022. 04.048.

[50] Hartman JJ, Hwee DT, Robert-Paganin J, et al. Aficamten is a small-molecule cardiac myosin inhibitor designed to treat hypertrophic cardiomyopathy [J]. Nat Cardiovasc Res, 2024, 3 (8): 1003-1016. DOI: 10.1038/s44161-024-00505-0.

[51] Chuang C, Collibee S, Ashcraft L, et al. Discovery of aficamten (CK-274), a next-generation cardiac myosin inhibitor for the treatment of hypertrophic cardiomyopathy [J]. J Med Chem, 2021, 64 (19): 14142-14152. DOI: 10.1021/acs.jmedchem.1c01290.

[52] Maron MS, Masri A, Nassif ME, et al. Aficanten for symptomatic obstructive hypertrophic cardiomyopathy [J]. N Engl J Med, 2024, 390 (20): 1849-1861. DOI: 10.1056/NEJMoa2401424.

[53] Maron MS, Masri A, Nassif ME, et al. Impact of aficanten on disease and symptom burden in obstructive hypertrophic cardiomyopathy: results from SEQUOIA-HCM [J]. J Am Coll Cardiol, 2024, 84 (19): 1821-1831. DOI: 10.1016/j.jacc.2024.09.003.

[54] Saberi S, Abraham TP, Choudhury L, et al. Aficanten treatment for symptomatic obstructive hypertrophic cardiomyopathy: 48-week results from FOREST-HCM [J]. JACC Heart Fail, 2025, 13 (8): 102496. DOI: 10.1016/j.jchf.2025.03.040.

[55] Tower-Rader A, Masri A, Nassif ME, et al. Aficanten in symptomatic obstructive hypertrophic cardiomyopathy: the FOREST-HCM long-term study [J]. Eur Heart J, 2026, ehaf1085. DOI: 10.1093/eurheartj/ehaf1085. Online ahead of print.

[56] Garcia-Pavia P, Maron MS, Masri A, et al. Aficanten or metoprolol monotherapy for obstructive hypertrophic cardiomyopathy [J]. N Engl J Med, 2025, 393 (10): 949-960. DOI: 10.1056/NEJMoa2504654.

[57] Rosing DR, Kent KM, Maron BJ, et al. Verapamil therapy: a new approach to the pharmacologic treatment of hypertrophic cardiomyopathy. II. Effects on exercise capacity and symptomatic status [J]. Circulation, 1979, 60 (6): 1208-1213. DOI: 10.1161/01.cir.60.6.1208.

[58] Toshima H, Koga Y, Nagata H, et al. Comparable effects of oral diltiazem and verapamil in the treatment of hypertrophic cardiomyopathy. Double-blind crossover study [J]. Jpn Heart J, 1986, 27 (5): 701-715. DOI: 10. 1536/jhj.27.701.

[59] Epstein SE, Rosing DR. Verapamil: its potential for causing serious complications in patients with hypertrophic cardiomyopathy [J]. Circulation, 1981, 64 (3): 437-441. DOI: 10.1161/01.cir.64.3.437.

[60] Sherrid MV, Barac I, McKenna WJ, et al. Multicenter study of the efficacy and safety of disopyramide in obstructive hypertrophic cardiomyopathy [J]. J Am Coll Cardiol, 2005, 45 (8): 1251-1258. DOI: 10.1016/j.jacc.2005.01.012.

[61] Sherrid MV, Shetty A, Winson G, et al. Treatment of obstructive hypertrophic cardiomyopathy symptoms and gradient resistant to first-line therapy with beta-blockade or verapamil [J]. Circ Heart Fail, 2013, 6 (4): 694-702. DOI: 10.1161/CIRCHEARTFAILURE.112.000122.

[62] Adler A, Fourey D, Weissler-Snir A, et al. Safety of outpatient initiation of disopyramide for obstructive hypertrophic cardiomyopathy patients [J]. J Am Heart Assoc, 2017, 6 (6): e005152. DOI: 10.1161/JAHA. 116. 005152.

[63] Borisov KV. Surgery of hypertrophic obstructive cardiomyopathy in patients with severe hypertrophy, myocardial fibrosis, and ventricular tachycardia [J]. Ann Thorac Surg, 2018, 106 (1): 30-37. DOI: 10.1016/j.athoracsur.2018.02.017.

[64] Fang J, Liu Y, Zhu Y, et al. First-in-human transapical beating-heart septal myectomy in patients with hypertrophic obstructive cardiomyopathy [J]. J Am Coll Cardiol, 2023, 82 (7): 575-586. DOI: 10.1016/j.jacc.2023. 05.052.

中华心力衰竭和心肌病杂志 2026 年 3 月第 10 卷第 1 期 Chin J Heart Fail & Cardiomyopathy, March 2026, Vol. 10, No. 1

· 15 ·

[65] Maron BJ, Dearani JA, Ommen SR, et al. Low operative mortality achieved with surgical septal myectomy: role of dedicated hypertrophic cardiomyopathy centers in the management of dynamic subaortic obstruction [J]. J Am Coll Cardiol, 2015, 66 (11): 1307-1308. DOI: 10.1016/j.jacc.2015.06.1333.

[66] Kim LK, Swaminathan RV, Looser P, et al. Hospital volume outcomes after septal myectomy and alcohol septal ablation for treatment of obstructive hypertrophic cardiomyopathy: US Nationwide Inpatient Database, 2003-2011 [J]. JAMA Cardiol, 2016, 1 (3): 324-332. DOI: 10.1001/jamacardio.2016.0252.

[67] 郭惠明,魏培坚. 梗阻性肥厚型心肌病外科治疗的挑战与未来[J]. 中华外科杂志, 2023, 61 (3): 181-186. DOI: 10.3760/cma.j.cn112139-20220918-00397.

[68] 刘蓉, 乔树宾, 胡奉环, 等. 经皮室间隔心肌消融术治疗肥厚型心肌病的长期预后及其影响因素[J]. 中华心血管病杂志, 2016, 44 (9): 771-776. DOI: 10.3760/cma.j.issn.0253-3758.2016.09.008.

[69] Yokoyama Y, Shimoda T, Shimada YJ, et al. Alcohol septal ablation versus surgical septal myectomy of obstructive hypertrophic cardiomyopathy: systematic review and meta-analysis [J]. Eur J Cardiothorac Surg, 2023, 63 (3): ezad043. DOI: 10.1093/ejcts/ezad043.

[70] Jiang T, Huang B, Huo S, et al. Endocardial radiofrequency ablation vs. septal myectomy in patients with hypertrophic obstructive cardiomyopathy: a systematic review and meta-analysis [J]. Front Surg, 2022, 9: 859205. DOI: 10.3389/fsurg.2022.859205.

[71] Nguyen A, Schaff HV, Hang D, et al. Surgical myectomy versus alcohol septal ablation for obstructive hypertrophic cardiomyopathy: a propensity score-matched cohort [J]. J Thorac Cardiovasc Surg, 2019, 157 (1): 306-315 e3. DOI: 10.1016/j.jtcvs.2018.08.062.

[72] Bonow RO, Rosing DR, Epstein SE. The acute and chronic effects of verapamil on left ventricular function in patients with hypertrophic cardiomyopathy [J]. Eur Heart J, 1983, 4 Suppl F: 57-65. DOI: 10.1093/eurheartj/4.suppl.f.57.

[73] Seuthe K, Feidakis A, Nies R, et al. Hemodynamic and symptomatic response in real-world patients with hypertrophic obstructive cardiomyopathy and myosin inhibitor therapy [J]. Front Cardiovasc Med, 2026, 2:12: 1639855. DOI: 10.3389/fcvm.2025.1639855.

[74] Maron MS, Masri A, Choudhury L, et al. Phase 2 study of aficamten in patients with obstructive hypertrophic cardiomyopathy [J]. J Am Coll Cardiol, 2023, 81 (1): 34-45. DOI: 10.1016/j.jacc.2022.10.020.

[75] Owens AT, Masri A, Abraham TP, et al. Aficamten for drug-refractory severe obstructive hypertrophic cardiomyopathy in patients receiving disopyramide: REDWOOD-HCM cohort 3 [J]. J Card Fail, 2023, 29 (11): 1576-1582. DOI: 10.1016/j.cardfail.2023.07.003.

[76] Fang J, Chen Y, Liu Y, et al. Transapical beating-heart septal myectomy for obstructive hypertrophic cardiomyopathy: lessons learned after the learning curve period [J]. Circ Cardiovasc Interv, 2025, 18 (5): e015044. DOI: 10.1161/CIRCINTERVENTIONS.124.015044.

[77] Tower-Rader A, Furiasse N, Puthumana JJ, et al. Effects of septal myectomy on left ventricular diastolic function and

left atrial volume in patients with hypertrophic cardiomyopathy [J]. Am J Cardiol, 2014, 114 (10): 1568-1572. DOI: 10.1016/j.amjcard.2014.08.029.

[78] Faber L, Seggewiss H, Gleichmann U. Percutaneous transluminal septal myocardial ablation in hypertrophic obstructive cardiomyopathy: results with respect to intraprocedural myocardial contrast echocardiography [J]. Circulation, 1998, 98 (22): 2415-2421. DOI: 10.1161/01.cir:98.22.2415.

[79] Pedone C, Biagini E, Galema TW, et al. Myocardial perfusion after percutaneous transluminal septal myocardial ablation as assessed by myocardial contrast echocardiography in patients with hypertrophic obstructive cardiomyopathy [J]. J Am Soc Echocardiogr, 2006, 19 (8): 982-986. DOI: 10.1016/j.echo.2006.03.018.

[80] Veselka J, Honek T. Early remodelling of left ventricle and improvement of myocardial performance in patients after percutaneous transluminal septal myocardial ablation for hypertrophic obstructive cardiomyopathy [J]. Int J Cardiol, 2003, 88 (1): 27-32. DOI: 10.1016/s0167-5273 (02)00381-9.

[81] Moss TJ, Krantz MJ, Zipse MM, et al. Left ventricular systolic function following alcohol septal ablation for symptomatic hypertrophic cardiomyopathy [J]. Am J Cardiol, 2014, 113 (8): 1401-1404. DOI: 10.1016/j.amjcard.2014.01.417.

[82] Guo H, Wang J, Chen J, et al. Percutaneous transluminal septal myocardial ablation in hypertrophic obstructive cardiomyopathy: acute results and three-year noninvasive follow-up in 18 patients [J]. Can J Cardiol, 2004, 20 (8): 779-782.

[83] Sugihara H, Taniguchi Y, Ito K, et al. Effects of diltiazem on myocardial perfusion abnormalities during exercise in patients with hypertrophic cardiomyopathy [J]. Ann Nucl Med, 1998, 12 (6): 349-354. DOI: 10.1007/BF03164924.

[84] Wang S, Dong Z, Liu Z, et al. Minimally invasive electro-septal myectomy for hypertrophic obstructive cardiomyopathy through a right infra-axillary incision [J]. Ann Thorac Surg, 2026, 121 (5): 1129-1135. DOI: 10.1016/j.athoracsur.2025.09.023.

[85] Maurizi N, Antiochos P, Owens A, et al. Long-term outcomes after septal reduction therapies in obstructive hypertrophic cardiomyopathy: insights from the SHARE registry [J]. Circulation, 2024, 150 (17): 1377-1390. DOI: 10.1161/CIRCULATIONAHA.124.069378.

[86] Arbelo E, Protonotarios A, Gimeno JR, et al. 2023 ESC Guidelines for the management of cardiomyopathies [J]. Eur Heart J, 2023, 44 (37): 3503-3626. DOI: 10.1093/eurheartj/ehad194.

[87] Maron BJ, Rowin EJ, Udelson JE, et al. Clinical spectrum and management of heart failure in hypertrophic cardiomyopathy[J]. JACC Heart Fail, 2018, 6 (5): 353-363. DOI: 10.1016/j.jchf.2017.09.011.

[88] Desai MY, Bhonsale A, Smedira NG, et al. Predictors of long-term outcomes in symptomatic hypertrophic obstructive cardiomyopathy patients undergoing surgical relief of left ventricular outflow tract obstruction [J]. Circulation, 2013, 128 (3): 209-216. DOI: 10.1161/CIRCULATIONAHA. 112.000849.

相关指南

• 中国高血压健康管理规范(2019) · 心血管内科 2020
• 2024年中国高血压指南 · 心血管内科 2024
• 中国肥厚型心肌病指南2022 · 心血管内科 2022
• 高血压合理用药指南(第2版) · 心血管内科 2017
• 中国肥厚型心肌病指南2022 · 心血管内科 2022
• 室上性心动过速诊断及治疗中国专家共识（2021） · 心血管内科 2021
• 甲状腺功能亢进症基层合理用药指南 · 内分泌与代谢 2021
• 室性心动过速基层合理用药指南 · 心血管内科 2021