Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis
Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis
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DOI：
10.1161/circulationaha.116.021612
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发表时间：
2016-06-14
期刊：
影响因子：
37.8
通讯作者：
Hawkins, Philip N.
中科院分区：
文献类型：
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作者：
Gillmore, Julian D.;Maurer, Mathew S.;Hawkins, Philip N.
背景-心脏转甲状腺素(ATTR)淀粉样变性是一种进行性和致命性的心肌病，有几种有希望的治疗方法正在开发中。由于超声心动图的有限特异度和传统的组织学确认要求，诊断常常被延误或遗漏。长期以来，人们已经认识到，氚标记的骨显像示踪剂可以定位于心肌淀粉样蛋白沉积，最近又开始使用这种成像方法来诊断心脏ATTR淀粉样变性。我们进行了一项多中心研究，以确定骨显像在这种疾病中的诊断价值。方法和结果-分析1217例疑似心脏淀粉样变性患者的骨显像和生化检查结果，这些患者在专家中心进行了评估。在857例组织学证实的淀粉样蛋白患者(374例心内膜活检)和360例随后证实的非淀粉样心肌病患者中，心肌放射性示踪剂摄取骨显像对心脏ATTR淀粉样蛋白的敏感性为99%，特异性为86%，假阳性几乎完全来自心脏AL淀粉样变性患者的摄取。重要的是，骨显像上2级或3级心肌放射性示踪剂摄取和血清或尿液中没有单抗蛋白的联合发现对心脏ATTR淀粉样变性的特异性和阳性预测价值为100%(阳性预测值可信区间为98.0-100)。结论：对于没有单克隆性伽马病的患者，骨显像可以可靠地诊断心脏ATTR淀粉样变性，而不需要组织学检查。我们提出了适用于大多数心脏淀粉样变性患者的无创性诊断标准。
Background-Cardiac transthyretin (ATTR) amyloidosis is a progressive and fatal cardiomyopathy for which several promising therapies are in development. The diagnosis is frequently delayed or missed because of the limited specificity of echocardiography and the traditional requirement for histological confirmation. It has long been recognized that technetium-labeled bone scintigraphy tracers can localize to myocardial amyloid deposits, and use of this imaging modality for the diagnosis of cardiac ATTR amyloidosis has lately been revisited. We conducted a multicenter study to ascertain the diagnostic value of bone scintigraphy in this disease.Methods and Results-Results of bone scintigraphy and biochemical investigations were analyzed from 1217 patients with suspected cardiac amyloidosis referred for evaluation in specialist centers. Of 857 patients with histologically proven amyloid (374 with endomyocardial biopsies) and 360 patients subsequently confirmed to have nonamyloid cardiomyopathies, myocardial radiotracer uptake on bone scintigraphy was >99% sensitive and 86% specific for cardiac ATTR amyloid, with false positives almost exclusively from uptake in patients with cardiac AL amyloidosis. Importantly, the combined findings of grade 2 or 3 myocardial radiotracer uptake on bone scintigraphy and the absence of a monoclonal protein in serum or urine had a specificity and positive predictive value for cardiac ATTR amyloidosis of 100% (positive predictive value confidence interval, 98.0-100).Conclusions-Bone scintigraphy enables the diagnosis of cardiac ATTR amyloidosis to be made reliably without the need for histology in patients who do not have a monoclonal gammopathy. We propose noninvasive diagnostic criteria for cardiac ATTR amyloidosis that are applicable to the majority of patients with this disease.