HCM Institute, Tufts Medical Center, Boston, Massachusetts.
HCM Institute, Tufts Medical Center, Boston, Massachusetts.
Heart Rhythm. 2021 Jun;18(6):1012-1023. doi: 10.1016/j.hrthm.2021.01.019. Epub 2021 Jan 26.
Hypertrophic cardiomyopathy (HCM) is a relatively common inherited myocardial disorder, once regarded as largely untreatable with ominous prognosis and most visibly as a common cause of sudden death (SD) in the young. Over the last several years, HCM has been transformed into a contemporary treatable disease with management options that significantly alter clinical course. With the use of implantable cardioverter-defibrillators (ICDs) in the HCM patient population, a new paradigm has emerged, with primary prevention device therapy reliably terminating potentially lethal ventricular tachyarrhythmias (3%-4% per year) and being largely responsible for a >10-fold decrease in disease-related mortality (to 0.5% per year), independent of age. An evidenced-based and guideline directed clinical risk stratification algorithm has evolved, including variables identified with cardiac magnetic resonance. One or more risk markers judged major and relevant within a patient's clinical profile can be considered sufficient to recommend a primary prevention implant (associated with a measure of physician judgment and shared decision-making). ICD decisions using the prospective individual risk marker strategy have been associated with 95% sensitivity for identifying patients who subsequently experienced appropriate ICD therapy, (albeit often delayed substantially for >5 or >10 years after implant), but without heart failure deterioration or HCM death following device intervention. A rigid mathematically derived statistical risk model proposed by the European Society of Cardiology is associated with low sensitivity (ie, 33%) for predicting SD events. Introduction of prophylactically inserted ICDs to HCM 20 years ago has significantly altered the clinical course and landscape of this disease. SD prevention has reduced HCM mortality significantly, making preservation of life and the potential for normal longevity a reality for most patients.
肥厚型心肌病（HCM）是一种相对常见的遗传性心肌疾病，曾经被认为在很大程度上无法治疗，预后凶险，最明显的是导致年轻人猝死（SD）。在过去的几年中，HCM 已经转变为一种现代可治疗的疾病，管理选择显著改变了临床病程。在 HCM 患者人群中使用植入式心脏复律除颤器（ICD），出现了一种新的模式，主要预防装置治疗可靠地终止潜在致命性室性心动过速（每年 3%-4%），并在很大程度上导致与疾病相关的死亡率降低了 10 倍以上（每年 0.5%），与年龄无关。已经形成了一种基于证据的、指南指导的临床风险分层算法，包括心脏磁共振识别的变量。可以认为患者临床特征中一个或多个判断为主要和相关的风险标志物足以推荐进行主要预防植入（与医生判断和共同决策有关）。使用前瞻性个体风险标志物策略的 ICD 决策与识别随后经历适当 ICD 治疗的患者的 95%敏感性相关（尽管在植入后经常大大延迟 >5 年或 >10 年），但没有心力衰竭恶化或 HCM 死亡。欧洲心脏病学会提出的一种严格的基于数学的统计风险模型与预测 SD 事件的低敏感性（即 33%）相关。20 年前预防性插入 ICD 治疗 HCM 已经显著改变了这种疾病的临床过程和前景。SD 预防显著降低了 HCM 死亡率，使大多数患者的生命和长寿的可能性成为现实。
