揭示非阻塞性肥厚性心肌病的复杂性。

IF 4.2 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS
Leopoldo Ordine, Roberto Polizzi, Grazia Canciello, Felice Borrelli, Salvatore di Napoli, Lorenzo Moscano, Brigida Napolitano, Raffaele Martorano, Alessandra Spinelli, Raffaella Lombardi, Giovanni Esposito, Maria-Angela Losi
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引用次数: 0

摘要

肥厚性心肌病(HCM)是一种遗传性心脏疾病,最大壁厚至少为15mm,主要有两种形式:梗阻性(oHCM)和非梗阻性(nHCM)。oHCM的特征是左室流出道梗阻(LVOTO),而nHCM则缺乏这一特征,其血流动力学和解剖学特征存在显著差异。在nHCM中,左室肥厚(LVH)表现为多种形态,包括心尖肥厚和室间隔反向弯曲,后者可能导致室中梗阻和左室几乎完全排空。心尖肥大与左室动脉瘤的风险相关,可能导致心律失常和血栓栓塞。这些发现挑战了认为nHCM是一种比oHCM更良性的表型的观点,并强调了改进诊断和治疗策略的必要性。nHCM的症状,如疲劳和呼吸困难,通常归因于舒张功能障碍,而心绞痛等症状归因于微血管功能障碍。然而,目前的治疗选择仍然有限,因为传统的心力衰竭治疗经常不能提供实质性的好处。鉴于其异质性,更个性化的治疗方法是必要的,包括优化合并症,评估冠状动脉微血管功能障碍,并考虑替代的药物策略。新兴疗法,如肌球蛋白抑制剂马伐卡坦和阿非卡坦,针对肌挛缩性过度,在早期试验中显示出希望,但它们对nHCM的临床影响仍在研究中。基因疗法也有潜力,尽管它们对nHCM的适用性受到高突变阴性病例率和晚期疾病状态潜在不可逆性的限制。这篇综述批判性地分析了nHCM的病理生理机制,评估了当前和新兴的治疗策略,并为这种复杂且经常被忽视的疾病的当代管理方法提供了指导。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Unveiling the complexity of nonobstructive hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a genetic heart disorder defined by the presence of a maximal wall thickness of at least 15 mm with two main forms: obstructive (oHCM) and nonobstructive (nHCM). While oHCM is characterized by left ventricular (LV) outflow tract obstruction (LVOTO), nHCM lacks this feature and shows significant variability in its hemodynamic and anatomical traits. In nHCM, LV hypertrophy (LVH) presents diverse morphologies, including apical hypertrophy and reverse septal curvature, the latter potentially causing mid-ventricular obstruction and near-complete LV emptying. Apical hypertrophy is associated with the risk of LV aneurysms, potentially leading to arrhythmias and thromboembolism. These findings challenge the belief that nHCM is a more benign phenotype than oHCM and highlight the necessity for improved diagnostic and therapeutic strategies. Symptoms in nHCM, such as fatigue and dyspnea, are often attributed to diastolic dysfunction, whereas symptoms like angina are attributed to microvascular dysfunction. However, current treatment options remain limited, as traditional heart failure therapies frequently fail to provide substantial benefits. Given its heterogeneity, a more personalized treatment approach is warranted, including optimizing comorbidities, assessing coronary microvascular dysfunction, and considering alternative pharmacologic strategies. Emerging therapies, such as myosin inhibitors mavacamten and aficamten, target sarcomeric hypercontractility and show promise in early trials, but their clinical impact on nHCM is still under investigation. Gene therapies also hold potential, though their applicability to nHCM is limited by the high rate of mutation-negative cases and the potential irreversibility of advanced disease states. This review critically analyzes the pathophysiological mechanisms of nHCM, evaluates current and emerging therapeutic strategies, and provides guidance on contemporary management approaches for this complex and often underrecognized condition.

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来源期刊
Heart Failure Reviews
Heart Failure Reviews 医学-心血管系统
CiteScore
10.40
自引率
2.20%
发文量
90
审稿时长
6-12 weeks
期刊介绍: Heart Failure Reviews is an international journal which develops links between basic scientists and clinical investigators, creating a unique, interdisciplinary dialogue focused on heart failure, its pathogenesis and treatment. The journal accordingly publishes papers in both basic and clinical research fields. Topics covered include clinical and surgical approaches to therapy, basic pharmacology, biochemistry, molecular biology, pathology, and electrophysiology. The reviews are comprehensive, expanding the reader''s knowledge base and awareness of current research and new findings in this rapidly growing field of cardiovascular medicine. All reviews are thoroughly peer-reviewed before publication.
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