Fiori M G, Salvi F, Plasmati R, Tessari F, Bianchi R, Tassinari C A
Department of Orthopedics, University of Brescia School of Medicine, Italy.
Cardiology. 1994;85(3-4):145-53. doi: 10.1159/000176669.
A case of severe cardiac involvement is reported in a patient affected with familial amyloidotic polyneuropathy due to the Portuguese type I variant (Val-->Met30) of the transthyretin (prealbumin) molecule. Echocardiographic and hemodynamic studies suggested the presence of a progressive infiltrative cardiomyopathy that was later confirmed by endomyocardial biopsy. Amyloid deposits were found in both intra- and extra-myofiber location and thought to be related to primary involvement of the heart. Norepinephrine content of myocardial bioptic specimens was about threefold lower than normal, indicating that autonomic denervation may contribute to the maintenance and progression of cardiomyopathy. A sample obtained from the sural nerve showed a loss of myelinated fibers along with accumulation of amyloid masses in the endoneurial space. This histopathologic pattern correlated with a sharp decrease in the activity of the enzyme subserving electrochemical conduction through the axonal membrane, Na+, K(+)-ATPase.
本文报道了1例因转甲状腺素蛋白（前白蛋白）分子的葡萄牙I型变异体（Val→Met30）导致家族性淀粉样多神经病的患者出现严重心脏受累的情况。超声心动图和血流动力学研究提示存在进行性浸润性心肌病，随后心内膜活检证实了这一点。淀粉样沉积物在肌纤维内和肌纤维外均有发现，被认为与心脏的原发性受累有关。心肌活检标本中的去甲肾上腺素含量比正常水平低约三倍，表明自主神经去神经支配可能有助于心肌病的维持和进展。取自腓肠神经的样本显示有髓纤维减少，同时神经内膜间隙有淀粉样物质积聚。这种组织病理学模式与通过轴突膜进行电化学传导的酶Na +，K（+）-ATP酶活性急剧下降相关。
