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对肉芽肿性和淀粉样变性心肌病的新见解

Emerging Insights into Granulomatous and Amyloidogenic Cardiomyopathies.

作者信息

Bukhari Syed, Younus Adnan, Bashir Zubair

机构信息

Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

TidalHealth Peninsula Regional, Salisbury, MD 21801, USA.

出版信息

J Clin Med. 2025 Jun 13;14(12):4208. doi: 10.3390/jcm14124208.

Abstract

Granulomatous and amyloidogenic cardiomyopathies are infiltrative conditions that can be fatal if left untreated. Among these, cardiac amyloidosis and cardiac sarcoidosis are significant but often underdiagnosed causes of heart failure, each serving as cardiac manifestations of broader systemic diseases. Advancements in imaging techniques and the emergence of novel therapies-particularly for cardiac amyloidosis-have brought these conditions into sharper focus for both clinicians and researchers. We conducted a comprehensive review of the literature by searching databases including PubMed and Scopus for studies published since 1990 regarding clinical features, diagnostic techniques, and treatment strategies for cardiac amyloidosis and cardiac sarcoidosis. Studies were selected based on relevance to imaging methods, including echocardiography, cardiac magnetic resonance imaging (CMR), positron emission tomography (PET), and technetium-labeled nuclear scintigraphy, as well as treatment modalities for both conditions. Imaging techniques, particularly CMR, technetium-labeled nuclear scan, and PET, were found to be crucial for the early identification and differentiation of cardiac amyloidosis and cardiac sarcoidosis. Distinct late gadolinium enhancement patterns were observed in CMR along with morphological differences, aiding in diagnosis. Technetium-labeled nuclear scintigraphy can definitively distinguish between subtypes of cardiac amyloidosis in the absence of paraproteinemia. Early diagnosis has been shown to significantly improve patient outcomes. Early treatment can reduce morbidity in both cardiomyopathies. Multimodality imaging can help in the early detection of cardiac amyloidosis and cardiac sarcoidosis. Treatment strategies differ substantially: cardiac amyloidosis is primarily managed with disease-modifying therapies for the transthyretin subtype and chemotherapy/stem cell transplant for the AL subtype, while cardiac sarcoidosis is treated with corticosteroids and immunosuppressive drugs to reduce inflammation. Early and accurate diagnosis through advanced imaging techniques is critical to improving outcomes for patients with these conditions.

摘要

肉芽肿性和淀粉样变性心肌病是浸润性疾病,若不治疗可能会致命。其中,心脏淀粉样变性和心脏结节病是导致心力衰竭的重要但常常被漏诊的原因,它们分别是更广泛的全身性疾病的心脏表现。成像技术的进步以及新型疗法的出现——特别是针对心脏淀粉样变性的疗法——使这些疾病成为临床医生和研究人员更加关注的焦点。我们通过检索包括PubMed和Scopus在内的数据库,对自1990年以来发表的关于心脏淀粉样变性和心脏结节病的临床特征、诊断技术及治疗策略的研究进行了全面综述。根据与成像方法的相关性选择研究,成像方法包括超声心动图、心脏磁共振成像(CMR)、正电子发射断层扫描(PET)和锝标记核闪烁扫描,以及这两种疾病的治疗方式。结果发现,成像技术,尤其是CMR、锝标记核扫描和PET,对于心脏淀粉样变性和心脏结节病的早期识别和鉴别至关重要。在CMR中观察到明显的延迟钆增强模式以及形态学差异,有助于诊断。在无副蛋白血症的情况下,锝标记核闪烁扫描可以明确区分心脏淀粉样变性的亚型。已表明早期诊断可显著改善患者预后。早期治疗可降低这两种心肌病的发病率。多模态成像有助于早期检测心脏淀粉样变性和心脏结节病。治疗策略有很大不同:心脏淀粉样变性主要通过针对转甲状腺素蛋白亚型的疾病修饰疗法以及针对轻链型淀粉样变性的化疗/干细胞移植进行管理,而心脏结节病则用皮质类固醇和免疫抑制药物治疗以减轻炎症。通过先进成像技术进行早期准确诊断对于改善这些疾病患者的预后至关重要。

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