Grasso Maurizia, Cavaliere Claudia, Vilardo Viviana, Tagliani Marilena, Di Toro Alessandro, Urtis Mario, Paganini Chiara, Buccieri Edward, Tescari Antonio, Ferrari Michela, Arbustini Eloisa
Centre for Inherited Cardiovascular Diseases, Scientific Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Department of Electrical Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.
Eur Heart J Suppl. 2025 Apr 16;27(Suppl 3):iii7-iii12. doi: 10.1093/eurheartjsupp/suaf036. eCollection 2025 Mar.
Cardiac amyloidosis (CA) affects the myocardium, vessels, valves, and epi-pericardium. Guidelines and expert consensus documents provide recommendations for the diagnostic work-up, which has the dual purpose of confirming the presence of amyloid deposits and characterizing the amyloidogenic protein. Amyloid typing is essential for treatments targeting the different types of amyloidosis, mainly transthyretin (ATTR, the most common type) and light chain, and less commonly reactive-serum amyloid-A, and beta2-microglobulin. Endomyocardial biopsy (EMB), still considered the gold standard for diagnosing and typing amyloid, is primarily reserved for cases where non-invasive tools do not provide a definitive diagnosis. Interestingly, while EMB was expected to decline, its numbers have increased globally over the past decade. This trend was driven by the greater awareness of CA, the novel epidemiology of CA with exponentially increased ATTRwt, the limitations of non-invasive methods in diagnosing early-stage ATTR CA, and the need to diagnose and type CAs that are not identified through alternative tools. Looking ahead, it is anticipated that EMB will continue to play a crucial role in diagnosing CA. This review explores the current diagnostic role of EMB, and potential applications in early CA, in differential diagnoses, in detecting and typing rare CA, as well as in incidental findings.
心脏淀粉样变性（CA）会累及心肌、血管、瓣膜和心外膜。指南和专家共识文件为诊断检查提供了建议，诊断检查具有双重目的，即确认淀粉样蛋白沉积的存在并鉴定淀粉样蛋白生成蛋白。淀粉样蛋白分型对于针对不同类型淀粉样变性的治疗至关重要，主要是转甲状腺素蛋白（ATTR，最常见类型）和轻链，较少见的是反应性血清淀粉样蛋白A和β2微球蛋白。心内膜心肌活检（EMB）仍然被认为是诊断和分型淀粉样变性的金标准，主要用于无创检查工具无法提供明确诊断的病例。有趣的是，虽然预计EMB的数量会减少，但在过去十年中其全球数量却有所增加。这一趋势是由对CA的认识提高、ATTRwt呈指数增长的CA新流行病学、无创方法在诊断早期ATTR CA方面的局限性以及诊断和分型通过替代工具无法识别的CA的需求所驱动的。展望未来，预计EMB将继续在诊断CA中发挥关键作用。本综述探讨了EMB目前的诊断作用，以及在早期CA、鉴别诊断、检测和分型罕见CA以及偶然发现中的潜在应用。
