Abstract：
We identified two patients with transthyretin (ATTR) amyloid myopathy (one ATTR variant amyloidosis, ATTRv; one wild-type ATTR amyloidosis, ATTRwt). Myopathy was the initial manifestation in ATTRwt, whereas it followed neuropathy and cardiomyopathy in ATTRv. The ATTRwt patient showed muscular tracer uptake on 99mTc-DPD planar scintigraphy at the time of initial diagnosis, consistent with ATTR amyloid myopathy. The ATTRv patient underwent heart transplantation because of progressive heart failure. Within the next two years, progressive myopathic symptoms and extracardiac tracer uptake on 99mTc-DPD planar scintigraphy were documented, attributable to ATTR amyloid myopathy. Interstitial amyloid deposits were confirmed by muscle biopsy in both patients, with a particularly high amyloid burden in the adipose tissue. This case report highlights the frequent concomitant presence of cardiac ATTR amyloidosis and ATTR amyloid myopathy. ATTR amyloid myopathy may precede cardiac manifestation in ATTRwt or occur after heart transplantation in ATTRv. Due to the high diagnostic accuracy of 99mTc-DPD scintigraphy for detecting ATTR amyloid myopathy and the emergence of novel therapeutics, it is important to increase the awareness of its presence.
摘要：
我们确定了两名患有转甲状腺素蛋白（ATTR）淀粉样蛋白肌病的患者（一名ATTR变异型淀粉样变性，ATTRv；一种野生型ATTR淀粉样变性，ATTRwt）。肌病是ATTRwt的最初表现，而在ATTRv中，它遵循神经病和心肌病。ATTRwt患者在初步诊断时在99mTc-DPD平面闪烁显像上显示肌肉示踪剂摄取，与ATTR淀粉样肌病一致。ATTRv患者因进行性心力衰竭而接受了心脏移植。在接下来的两年里，记录了99mTc-DPD平面闪烁显像的进行性肌病症状和心外示踪剂摄取，可归因于ATTR淀粉样肌病。两名患者的肌肉活检证实了间质淀粉样蛋白沉积，脂肪组织中的淀粉样蛋白负荷特别高。该病例报告强调了经常同时存在的心脏ATTR淀粉样变性和ATTR淀粉样肌病。ATTR淀粉样肌病可能先于ATTRwt的心脏表现或在ATTRv的心脏移植后发生。由于99mTc-DPD闪烁显像检测ATTR淀粉样肌病的高诊断准确性和新疗法的出现，重要的是要提高对其存在的认识。
