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Hypertrophic cardiomyopathy: the future of treatment.
European Journal of Heart Failure ( IF 16.9 ) Pub Date : 2020-01-09 , DOI: 10.1002/ejhf.1715
C Vaughan Tuohy 1 , Sanjiv Kaul 1 , Howard K Song 1 , Babak Nazer 1 , Stephen B Heitner 1
Affiliation  

Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic disorder most often caused by sarcomeric mutations resulting in left ventricular hypertrophy, fibrosis, hypercontractility, and reduced compliance. It is the most common inherited monogenic cardiac condition, affecting 0.2% of the population. Whereas currently available therapies for HCM have been effective in reducing morbidity, there remain important unmet needs in the treatment of both the obstructive and non-obstructive phenotypes. Novel pharmacotherapies directly target the molecular underpinnings of HCM, while innovative procedural techniques may soon offer minimally-invasive alternatives to current septal reduction therapy. With the advent of embryonic gene editing, there now exists the potential to correct underlying genetic mutations that may result in disease. This article details the recent developments in the treatment of HCM including pharmacotherapy, septal reduction procedures, mitral valve manipulation, and gene-based therapies.

中文翻译:

肥厚型心肌病:未来的治疗方法。

肥厚型心肌病(HCM)是一种异质性遗传疾病,通常由肌节突变引起,导致左心室肥大,纤维化,过度收缩和顺应性降低。它是最常见的遗传性单基因心脏病,影响了0.2%的人口。尽管目前可用的HCM疗法在降低发病率方面是有效的,但在阻塞性和非阻塞性表型的治疗方面仍存在重要的未满足需求。新型药物疗法直接针对HCM的分子基础,而创新的程序技术可能很快会为当前的间隔减少疗法提供微创替代疗法。随着胚胎基因编辑的出现,现在存在纠正可能导致疾病的潜在遗传突变的潜力。
更新日期:2020-01-11
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