Low Sensitivity of Bone Scintigraphy in Detecting Phe64Leu Mutation-Related Transthyretin Cardiac Amyloidosis
Low Sensitivity of Bone Scintigraphy in Detecting Phe64Leu Mutation-Related Transthyretin Cardiac Amyloidosis
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DOI：
10.1016/j.jcmg.2019.10.015
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发表时间：
2020-06-01
影响因子：
14
通讯作者：
Rapezzi, Claudio
中科院分区：
文献类型：
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作者：
Musumeci, Maria Beatrice;Cappelli, Francesco;Rapezzi, Claudio
目的评价核素骨显像在心脏淀粉样变性受累和Phe64Leu转甲状腺蛋白(TTR)突变患者中的诊断准确性。背景核素骨显像对甲状腺激素相关性心脏淀粉样变(TTRCA)的诊断准确率极高，可作为TTRCA的无创诊断标准。方法对1993年至2018年在意大利7个专科三级中心收治的55例Phe64Leu突变患者进行了回顾性分析和评估。心脏受累被定义为存在舒张期末室间隔厚度12 mm，没有其他可能的左心室肥厚原因(即动脉高血压或瓣膜病变)。结果26例明确心脏受累的患者中，19例行99mTC-DPD或99mTC-HMDP骨显像。在这些患者中，17例(89.5%)心肌骨示踪剂摄取低或缺失，而只有2例(10.5%)心肌摄取高度。骨显像检测TTRCA的敏感性和准确性分别为10.5%和37%。心脏受累和骨示踪剂摄取低或缺失的患者在年龄、性别、心电图和超声心动图发现方面与心肌摄取高级别患者相似。结论在Phe64Leu TTR突变患者中，骨显像(DPD和HMDP)检测TTRCA的敏感性极低，提示需要评估骨显像诊断心脏受累的准确性，以确定更广泛的TTR突变范围。(C)2020年，由美国心脏病学会基金会提供。
OBJECTIVES The aim of this study was to assess the diagnostic accuracy of bone scintigraphy in a large multicenter cohort of patients with cardiac amyloidotic involvement and Phe64Leu transthyretin (TTR) mutation.BACKGROUND Diagnostic accuracy of bone scintigraphy for transthyretin-related cardiac amyloidosis (TTR-CA) is considered extremely high, enabling this technique to be the noninvasive diagnostic standard for TTR-CA. Nevertheless, this approach has not been systematically validated across the entire spectrum of TTR mutations.METHODS A total of 55 patients with Phe64Leu TTR mutation were retrospectively analyzed and evaluated between 1993 and 2018 at 7 specialized Italian tertiary centers. Cardiac involvement was defined as presence of an end-diastolic interventricular septum thickness $12 mm, without other possible causes of left ventricular hypertrophy (i.e., arterial hypertension or valvulopathies). A technetium-99m (99mTc)-diphosphonate (DPD) or 99mTc-hydroxyl-methylenediphosphonate (HMDP) bone scintigraphy was reviewed, and visual scoring was evaluated according to Perugini's method.RESULTS Among 26 patients with definite cardiac involvement, 19 underwent 99mTc-DPD or 99mTc-HMDP bone scintigraphy. Of them, 17 (89.5%) patients had low or absent myocardial bone tracer uptake, whereas only 2 (10.5%) showed high-grade myocardial uptake. The sensitivity and the accuracy of bone scintigraphy in detecting TTR-CA were 10.5% and 37%, respectively. Patients with cardiac involvement and low or absent bone tracer uptake were similar to those with high-grade myocardial uptake in terms of age, sex, and electrocardiographic and echocardiographic findings.CONCLUSIONS The sensitivity of bone scintigraphy (DPD and HMDP) in detecting TTR-CA is extremely low in patients with Phe64Leu TTR mutation, suggesting the need to assess diagnostic accuracy of bone scintigraphy to identify cardiac involvement across a wider spectrum of TTR mutations. (c) 2020 by the American College of Cardiology Foundation.