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转甲状腺素蛋白淀粉样心肌病:推进精准医学的范例。

Transthyretin amyloid cardiomyopathy: a paradigm for advancing precision medicine.

作者信息

Gonzalez-Lopez Esther, Maurer Mathew S, Garcia-Pavia Pablo

机构信息

Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, IDIPHISA, Manuel de Falla, 1, 28222 Majadahonda, Madrid, Spain.

CIBER Cardiovascular, Instituto de Salud Carlos III, Avenida Monforte de Lemos 3-5. Pabellón 11. Planta 0. 28029 Madrid, Spain.

出版信息

Eur Heart J. 2025 Mar 13;46(11):999-1013. doi: 10.1093/eurheartj/ehae811.

Abstract

Development of specific therapies addressing the underlying diseases' mechanisms constitutes the basis of precision medicine. Transthyretin cardiac amyloidosis (ATTR-CM) is an exemplar of precise therapeutic approach in the field of heart failure and cardiomyopathies. A better understanding of the underlying pathophysiology, more precise data of its epidemiology, and advances in imaging techniques that allow non-invasive diagnosis have fostered the development of new and very effective specific therapies for ATTR-CM. Therapeutic advances have revolutionized the field, transforming a rare, devastating, and untreatable disease into a more common disease with several therapeutic alternatives available. Three main types of therapies (stabilizers, suppressors, and degraders) that act at different points of the amyloidogenic cascade have been developed or are currently under investigation. In this review, the key advances in pathophysiology and epidemiology that have occurred in the last decades along with the different therapeutic alternatives available or under development for ATTR-CM are described, illustrating the role of precision medicine applied to cardiovascular disorders. Pending questions that would need to be answered in upcoming years are also reviewed.

摘要

针对潜在疾病机制开发特异性疗法是精准医学的基础。转甲状腺素蛋白心脏淀粉样变(ATTR-CM)是心力衰竭和心肌病领域精准治疗方法的一个典范。对潜在病理生理学的更好理解、其流行病学的更精确数据以及能够实现非侵入性诊断的成像技术进步,推动了针对ATTR-CM的新型高效特异性疗法的发展。治疗进展彻底改变了该领域,将一种罕见、毁灭性且无法治疗的疾病转变为一种有多种治疗选择的更为常见的疾病。已经开发或正在研究作用于淀粉样蛋白生成级联不同点的三种主要治疗类型(稳定剂、抑制剂和降解剂)。在这篇综述中,描述了过去几十年在病理生理学和流行病学方面取得的关键进展以及针对ATTR-CM可用或正在开发的不同治疗选择,阐明了精准医学在心血管疾病中的作用。还回顾了未来几年需要回答的待解决问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7b7/11905746/7d9ea23e88cc/ehae811_ga.jpg

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