Faculdade de Medicina, Departamento de Clínica Médica, Universidade Federal de Goiás (UFG), Goiânia 74020-020, Brazil.
Faculdade de Medicina, Universidade de Rio Verde (UniRV), Campus Aparecida, Aparecida de Goiânia 74345-030, Brazil.
Int J Mol Sci. 2024 May 28;25(11):5855. doi: 10.3390/ijms25115855.
Hypertrophic cardiomyopathy (HCM) is a heart condition characterized by cellular and metabolic dysfunction, with mitochondrial dysfunction playing a crucial role. Although the direct relationship between genetic mutations and mitochondrial dysfunction remains unclear, targeting mitochondrial dysfunction presents promising opportunities for treatment, as there are currently no effective treatments available for HCM. This review adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Extension for Scoping Reviews guidelines. Searches were conducted in databases such as PubMed, Embase, and Scopus up to September 2023 using "MESH terms". Bibliographic references from pertinent articles were also included. Hypertrophic cardiomyopathy (HCM) is influenced by ionic homeostasis, cardiac tissue remodeling, metabolic balance, genetic mutations, reactive oxygen species regulation, and mitochondrial dysfunction. The latter is a common factor regardless of the cause and is linked to intracellular calcium handling, energetic and oxidative stress, and HCM-induced hypertrophy. Hypertrophic cardiomyopathy treatments focus on symptom management and complication prevention. Targeted therapeutic approaches, such as improving mitochondrial bioenergetics, are being explored. This includes coenzyme Q and elamipretide therapies and metabolic strategies like therapeutic ketosis. Understanding the biomolecular, genetic, and mitochondrial mechanisms underlying HCM is crucial for developing new therapeutic modalities.
肥厚型心肌病（HCM）是一种以细胞和代谢功能障碍为特征的心脏疾病，其中线粒体功能障碍起着关键作用。尽管遗传突变与线粒体功能障碍之间的直接关系仍不清楚，但靶向线粒体功能障碍为治疗提供了有前途的机会，因为目前尚无有效的 HCM 治疗方法。本综述遵循系统评价和荟萃分析扩展的首选报告项目范围综述指南。截至 2023 年 9 月，在 PubMed、Embase 和 Scopus 等数据库中使用“MESH 术语”进行了搜索，并纳入了相关文章的参考文献。
肥厚型心肌病（HCM）受离子动态平衡、心脏组织重构、代谢平衡、遗传突变、活性氧调节和线粒体功能障碍的影响。后者是一个共同的因素，无论病因如何，都与细胞内钙处理、能量和氧化应激以及 HCM 诱导的肥大有关。HCM 的治疗侧重于症状管理和并发症预防。正在探索靶向治疗方法，例如改善线粒体生物能学。这包括辅酶 Q 和 elamipretide 治疗以及治疗性酮症等代谢策略。了解 HCM 的生物分子、遗传和线粒体机制对于开发新的治疗方法至关重要。
