心肌疾病概念的变化:对肥厚性心肌病的认识的演变

W. Moody, P. Elliott
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引用次数: 4

摘要

60年前,肥厚性心肌病(HCM)被认为是一种罕见的致命疾病,主要影响年轻人,几乎没有治疗选择。如今,它被认为是一种相对常见的疾病,在整个生命过程中表现出异质性临床表型,在大多数人中可以有效控制。医疗从业者对这种情况的更多认识和更少的不情愿做出诊断,再加上心脏成像的改进,包括更多地使用人工智能和提高筛查工作的效率,都有助于促进更精确和及时的诊断。这种早期诊断HCM能力的增强与治疗的创新相结合,这意味着大多数接受当代HCM诊断的患者可以预期正常的预期寿命,并有望保持良好的功能状态和生活质量。事实上,随着分子遗传学从试验台到床边的转化越来越多,以及越来越多旨在改善甚至预防该疾病的新疗法的随机临床试验,HCM故事的下一章将给我们的患者带来更多的兴奋,更重要的是,为我们的患者提供备受期待的回报。
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Changing concepts in heart muscle disease: the evolving understanding of hypertrophic cardiomyopathy
Sixty years ago, hypertrophic cardiomyopathy (HCM) was considered a rare lethal disease that affected predominantly young adults and for which there were few treatment options. Today, it is recognised to be a relatively common disorder that presents throughout the life course with a heterogeneous clinical phenotype that can be managed effectively in the majority of individuals. A greater awareness of the condition and less reluctance from healthcare practitioners to make the diagnosis, coupled with improvements in cardiac imaging, including greater use of artificial intelligence and improved yields from screening efforts, have all helped facilitate a more precise and timely diagnosis. This enhanced ability to diagnose HCM early is being paired with innovations in treatment, which means that the majority of patients receiving a contemporary diagnosis of HCM can anticipate a normal life expectancy and expect to maintain a good functional status and quality of life. Indeed, with increasing translation of molecular genetics from bench to bedside associated with a growing number of randomised clinical trials of novel therapies aimed at ameliorating or perhaps even preventing the disease, the next chapter in the story for HCM will provide much excitement and more importantly, offer much anticipated reward for our patients.
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