Moody William E, Elliott Perry M
Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.
Department of Cardiology, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Heart. 2022 May;108(10):768-773. doi: 10.1136/heartjnl-2021-320145.
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.
六十年前,肥厚型心肌病(HCM)被认为是一种罕见的致命疾病,主要影响年轻人,且治疗选择有限。如今,它被认为是一种相对常见的疾病,在整个生命过程中都会出现,具有异质性的临床表型,大多数患者都能得到有效治疗。对该病的认识提高,医护人员对诊断的顾虑减少,再加上心脏成像技术的改进,包括人工智能的更多应用和筛查效率的提高,都有助于更准确、及时地做出诊断。早期诊断HCM的能力增强,再加上治疗方面的创新,这意味着大多数当代诊断为HCM的患者预期寿命正常,有望保持良好的功能状态和生活质量。事实上,随着分子遗传学从实验室到临床的转化不断增加,以及越来越多旨在改善甚至预防该病的新型疗法的随机临床试验,HCM故事的新篇章将令人兴奋不已,更重要的是,将为我们的患者带来期待已久的回报。