Młynarska Ewelina, Radzioch Ewa, Dąbek Bartłomiej, Leszto Klaudia, Witkowska Alicja, Czarnik Witold, Jędraszak Weronika, Rysz Jacek, Franczyk Beata
Department of Nephrocardiology, Medical University of Lodz, ul. Zeromskiego 113, 90-549 Lodz, Poland.
Department of Nephrology, Hypertension and Family Medicine, Medical University of Lodz, ul. Zeromskiego 113, 90-549 Lodz, Poland.
Biomedicines. 2024 Nov 24;12(12):2675. doi: 10.3390/biomedicines12122675.
Hypertrophic cardiomyopathy (HCM) is a heterogeneous group of heart muscle disorders that affects millions, with an incidence from 1 in 500 to 1 in 200. Factors such as genetics, age, gender, comorbidities, and environmental factors may contribute to the course of this disease. Diagnosis of HCM has improved significantly in the past few decades from simple echocardiographic evaluations to a more complex, multimodal approach embracing advanced imaging, genetic, and biomarker studies. This review focuses on Mavacamten, a selective allosteric inhibitor of cardiac myosin, as a pharmacological treatment for HCM. Patients with HCM experience pathological actomyosin interactions, leading to impaired relaxation and increased energy expenditure. Mavacamten decreases available myosin heads, reducing actomyosin cross-bridges during systole and diastole. By reducing the number of bridges left ventricular outflow tract pressure is normalized and cardiac cavities are filled. This mechanism enhances patient performance and alleviates symptoms such as chest pain and dyspnea. The results suggest the potential for Mavacamten to transform the treatment of obstructive hypertrophic cardiomyopathy. Studies to date have shown significant improvement in exercise capacity, symptom relief, and a reduction in the need for invasive procedures such as septal myectomy. Further studies are needed to confirm the clinical results.
肥厚型心肌病（HCM）是一组异质性的心肌疾病，影响着数百万人，发病率从500分之一到200分之一不等。遗传、年龄、性别、合并症和环境因素等可能影响该疾病的病程。在过去几十年里，HCM的诊断有了显著改善，从简单的超声心动图评估发展到一种更复杂的多模式方法，包括先进的影像学、遗传学和生物标志物研究。本综述重点关注mavacamten，一种心肌肌球蛋白的选择性变构抑制剂，作为HCM的药物治疗方法。HCM患者存在病理性肌动球蛋白相互作用，导致舒张功能受损和能量消耗增加。mavacamten减少可用的肌球蛋白头部数量，在收缩期和舒张期减少肌动球蛋白横桥。通过减少横桥数量，左心室流出道压力恢复正常，心脏腔室得以充盈。这一机制提高了患者的表现，缓解了胸痛和呼吸困难等症状。结果表明mavacamten有可能改变梗阻性肥厚型心肌病的治疗方式。迄今为止的研究表明，运动能力有显著改善，症状得到缓解，并且减少了诸如室间隔心肌切除术等侵入性手术的需求。还需要进一步研究来证实这些临床结果。
