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心脏淀粉样变性的临床及心血管磁共振成像特征

Clinical and Cardiovascular Magnetic Resonance Imaging Features of Cardiac Amyloidosis.

作者信息

Tana Marco, Tana Claudio, Panarese Alessandro, Mantini Cesare, Ricci Fabrizio, Porreca Ettore

机构信息

Internal Medicine and Cardiovascular Ultrasound Unit, Medical Department, SS. Annunziata Hospital, 66100 Chieti, Italy.

Department of Neuroscience, Imaging and Clinical Sciences, "G. D'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.

出版信息

Rev Cardiovasc Med. 2023 Oct 16;24(10):291. doi: 10.31083/j.rcm2410291. eCollection 2023 Oct.

Abstract

Amyloidosis is a systemic disease characterized by the accumulation of insoluble aggregates in various organs, leading to parenchymal damage. When these amyloid fibrils are deposited in the extracellular matrix of the cardiac structures, the condition is referred to as cardiac amyloidosis (CA). The extent of organ involvement determines the degree of cardiac impairment, which can significantly impact prognosis. The two most implicated proteins in CA are transthyretin and misfolded monoclonal immunoglobulin light chains. These proteins give rise to two distinct clinical forms of CA: transthyretin amyloidosis (ATTR-CA) and light-chain amyloidosis (AL-CA). ATTR-CA is further classified into two subtypes: ATTRm-CA, which occurs at a younger age and is caused by hereditary misfolded mutated proteins, and ATTRwt-CA, which is an acquired wild-type form more commonly observed in older adults, referred to as senile amyloidosis. While AL-CA was considered the most prevalent form for many years, recent autopsy studies have revealed an increase in cases of ATTRwt-CA. This narrative review aims to describe the clinical and imaging features of CA, with a particular focus on cardiac complications and mortality associated with the AL form. Early identification and differentiation of CA from other disorders are crucial, given the higher risk and severity of cardiac involvement in AL-CA. Furthermore, emphasis is placed on the potential utility of cardiovascular magnetic resonance imaging in detecting early cases of CA.

摘要

淀粉样变性是一种全身性疾病,其特征是在各个器官中积累不溶性聚集体,导致实质损伤。当这些淀粉样纤维沉积在心脏结构的细胞外基质中时,这种情况被称为心脏淀粉样变性(CA)。器官受累的程度决定了心脏损害的程度,这会对预后产生重大影响。CA中最常涉及的两种蛋白质是转甲状腺素蛋白和错误折叠的单克隆免疫球蛋白轻链。这些蛋白质导致了CA的两种不同临床形式:转甲状腺素蛋白淀粉样变性(ATTR-CA)和轻链淀粉样变性(AL-CA)。ATTR-CA进一步分为两个亚型:ATTRm-CA,发生在较年轻的年龄,由遗传性错误折叠的突变蛋白引起;ATTRwt-CA,是一种获得性野生型形式,更常见于老年人,称为老年性淀粉样变性。虽然多年来AL-CA被认为是最常见的形式,但最近的尸检研究显示ATTRwt-CA的病例有所增加。这篇叙述性综述旨在描述CA的临床和影像学特征,特别关注与AL形式相关的心脏并发症和死亡率。鉴于AL-CA中心脏受累的风险和严重性更高,早期识别CA并将其与其他疾病区分开来至关重要。此外,重点强调了心血管磁共振成像在检测早期CA病例中的潜在效用。

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