Clínica Universitária de Cardiologia, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal.
Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, Inglaterra; St. Bartholomew's Hospital, Barts Heart Centre, London, Inglaterra; Centro Cardiovascular, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.
Rev Port Cardiol (Engl Ed). 2020 Feb;39(2):99-109. doi: 10.1016/j.repc.2019.03.008. Epub 2020 Mar 31.
Hypertrophic cardiomyopathy is an inherited cardiac disease and a major cause of heart failure and sudden death. Even though it was described more than 50 years ago, sarcomeric hypertrophic cardiomyopathy still lacks a disease-specific treatment. The drugs routinely used alleviate symptoms but do not prevent or revert the phenotype. With recent advances in the knowledge about the genetics and pathophysiology of hypertrophic cardiomyopathy, new genetic and pharmacological approaches have been recently discovered and studied that, by influencing different pathways involved in this disease, have the potential to function as disease-modifying therapies. These promising new pharmacological and genetic therapies will be the focus of this review.
肥厚型心肌病是一种遗传性心脏病,也是心力衰竭和猝死的主要原因。尽管这种疾病在 50 多年前就已被描述,但肌小节性肥厚型心肌病仍然缺乏特定的治疗方法。常规使用的药物可以缓解症状,但不能预防或逆转表型。随着对肥厚型心肌病遗传和病理生理学知识的最新进展,最近发现并研究了新的遗传和药理学方法,这些方法通过影响涉及该疾病的不同途径,有可能作为疾病修饰疗法。这些有前途的新的药理和遗传治疗方法将是本次综述的重点。