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在日常实践中筛查转甲状腺素蛋白淀粉样心肌病。

Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice.

机构信息

Stanford Amyloid Center, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California.

Columbia University Medical Center & New York Presbyterian Hospital, College of Physicians and Surgeons, Columbia University, New York, New York.

出版信息

JACC Heart Fail. 2019 Aug;7(8):709-716. doi: 10.1016/j.jchf.2019.04.010. Epub 2019 Jul 10.

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a life-threatening, progressive, infiltrative disease caused by the deposition of transthyretin amyloid fibrils in the heart, and can often be overlooked as a common cause of heart failure. Delayed diagnosis due to lack of disease awareness and misdiagnosis results in a poorer prognosis. Early accurate diagnosis is therefore key to improving patient outcomes, particularly in the context of both the recent approval of tafamidis in some countries (including the United States) for the treatment of ATTR-CM, and of other promising therapies under development. With the availability of scintigraphy as an inexpensive, noninvasive diagnostic tool, the rationale to screen for ATTR-CM in high-risk populations of patients is increasingly warranted. Here the authors propose a framework of clinical scenarios in which screening for ATTR-CM is recommended, as well as diagnostic "red flags" that can assist in its diagnosis among the wider population of patients with heart failure.

摘要

转甲状腺素蛋白淀粉样心肌病(ATTR-CM)是一种由转甲状腺素蛋白淀粉样纤维在心脏中沉积引起的危及生命的、进行性的浸润性疾病,常常被忽视为心力衰竭的常见病因。由于缺乏疾病意识和误诊,导致诊断延迟,预后较差。因此,早期准确诊断对于改善患者预后至关重要,特别是在某些国家(包括美国)最近批准他司美琼用于治疗ATTR-CM 以及其他有前途的治疗方法正在开发的背景下。由于闪烁扫描术作为一种廉价、非侵入性的诊断工具,因此筛查ATTR-CM 高危患者的理由越来越充分。在此,作者提出了一个临床情况框架,其中建议对 ATTR-CM 进行筛查,并提出了在心力衰竭更广泛患者群体中有助于诊断的“危险信号”。

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