Sektion für Herzbildgebung, Klinik für Kardiologie, Universitätsklinikum Münster, Von-Esmarch-Str. 48, 48149, Münster, Germany.
Klinik für Kardiologie und Angiologie, Medizinische Hochschule Hannover, Hannover, Germany.
Clin Res Cardiol. 2021 Apr;110(4):479-506. doi: 10.1007/s00392-020-01799-3. Epub 2021 Jan 18.
Systemic forms of amyloidosis affecting the heart are mostly light-chain (AL) and transthyretin (ATTR) amyloidoses. The latter is caused by deposition of misfolded transthyretin, either in wild-type (ATTRwt) or mutant (ATTRv) conformation. For diagnostics, specific serum biomarkers and modern non-invasive imaging techniques, such as cardiovascular magnetic resonance imaging (CMR) and scintigraphic methods, are available today. These imaging techniques do not only complement conventional echocardiography, but also allow for accurate assessment of the extent of cardiac involvement, in addition to diagnosing cardiac amyloidosis. Endomyocardial biopsy still plays a major role in the histopathological diagnosis and subtyping of cardiac amyloidosis. The main objective of the diagnostic algorithm outlined in this position statement is to detect cardiac amyloidosis as reliably and early as possible, to accurately determine its extent, and to reliably identify the underlying subtype of amyloidosis, thereby enabling subsequent targeted treatment.
累及心脏的系统性淀粉样变性主要包括轻链（AL）淀粉样变性和转甲状腺素蛋白（ATTR）淀粉样变性。后一种疾病是由错误折叠的转甲状腺素蛋白沉积引起的，其形式可以是野生型（ATTRwt）或突变型（ATTRv）。目前，针对此类疾病的诊断，可采用特定的血清生物标志物和现代非侵入性成像技术，如心血管磁共振成像（CMR）和闪烁照相法。这些成像技术不仅可补充传统的超声心动图，还可准确评估心脏受累的程度，有助于诊断心脏淀粉样变性。心内膜心肌活检在心脏淀粉样变性的组织病理学诊断和亚型分类中仍发挥着重要作用。本立场声明中概述的诊断算法的主要目的是尽可能可靠和早期地检测到心脏淀粉样变性，准确确定其程度，并可靠识别潜在的淀粉样变性亚型，从而能够进行后续的靶向治疗。
