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探索转甲状腺素蛋白淀粉样心肌病:对该疾病及即将出现的治疗方法的全面综述。

Exploring Transthyretin Amyloid Cardiomyopathy: A Comprehensive Review of the Disease and Upcoming Treatments.

作者信息

Jain Hritvik, Reddy Murali Mohan Rama Krishna, Dey Rohit Chandra, Jain Jyoti, Shakhatreh Zaid, Manandhar Sarbagya, Neupane Purushottam, Waleed Madeeha Subhan, Yadav Rukesh, Sah Biki Kumar, Mahawa Rukam

机构信息

Department of Internal Medicine, All India Institute of Medical Sciences, Jodhpur, India.

Department of Internal Medicine, Kasturba Medical College, Mangalore, India.

出版信息

Curr Probl Cardiol. 2024 Jan;49(1 Pt B):102057. doi: 10.1016/j.cpcardiol.2023.102057. Epub 2023 Aug 26.

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a mutation-based genetic disorder due to the accumulation of unstable transthyretin protein and presents with symptoms of congestive heart failure (CHF) and numerous extracardiac symptoms like carpal tunnel syndrome and neuropathy. Two subtypes of ATTR-CM are hereditary and wild-type, both of which have different risk factors, gender prevalence and major clinical symptoms. Timely usage of imaging modalities like echocardiography, cardiac magnetic imaging resonance, and cardiac scintigraphy has made it possible to suspect ATTR-CM in patients presenting with CHF. Management of ATTR-CM includes appropriate treatment for heart failure for symptomatic relief, prevention of arrhythmias and heart transplantation for nonresponders. With the recent approval of tafamidis in the successful management of ATTR-CM, numerous potential therapeutic points have been identified to stop or delay the progression of ATTR-CM. This article aims to provide a comprehensive review of ATTR-CM and insights into its novel therapeutics and upcoming treatments.

摘要

转甲状腺素蛋白淀粉样变心肌病(ATTR-CM)是一种基于突变的遗传性疾病,由不稳定的转甲状腺素蛋白积聚所致,表现为充血性心力衰竭(CHF)症状以及众多心外症状,如腕管综合征和神经病变。ATTR-CM的两个亚型为遗传性和野生型,二者具有不同的危险因素、性别患病率及主要临床症状。及时使用超声心动图、心脏磁共振成像和心脏闪烁扫描等成像手段,使得在出现CHF的患者中怀疑ATTR-CM成为可能。ATTR-CM的管理包括针对心力衰竭进行适当治疗以缓解症状、预防心律失常以及对无反应者进行心脏移植。随着他氟米特最近获批成功用于ATTR-CM的管理,已确定了众多潜在治疗靶点以阻止或延缓ATTR-CM的进展。本文旨在对ATTR-CM进行全面综述,并深入探讨其新型疗法及未来治疗方法。

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