Department of Cardiology, Medical Academy, Lithuanian University of Health Sciences, Kaunas Region Society of Cardiologists, LT-44307 Kaunas, Lithuania.
Faculty of Medicine, Medical Academy, Lithuanian University of Health Sciences, LT-44307 Kaunas, Lithuania.
Medicina (Kaunas). 2023 Feb 10;59(2):335. doi: 10.3390/medicina59020335.
: Cardiac amyloidosis is an infiltrative, progressive, and restrictive cardiomyopathy that leads to heart failure, reduces life quality, and causes death. This is a multisystem disorder caused by mutations of the transthyretin protein and is associated not only with cardiac diseases or carpal tunnel syndrome but also with nerve, liver, lung, gastrointestinal tract, kidney, or eye pathologies. Carpal tunnel syndrome is an early red-flag symptom of transthyretin (TTR) cardiac amyloidosis; therefore, screening for unsuspected cardiac amyloidosis can be performed through histological testing of flexor retinaculum specimens gathered during carpal tunnel release surgery. Our case highlights that early detection and accurate diagnosis of a disease are important factors for improving clinical outcomes in patients with TTR amyloidosis. : We report the case of a 71-year-old man who presented with bilateral carpal tunnel syndrome. Amyloid deposits were detected after carpal tunnel release surgery through histological testing of the synovial tissue. The patient was sent for a cardiological evaluation. Physical examination, laboratory tests, and the ECG revealed no significant changes. The diagnosis of amyloidosis was confirmed with multimodality imaging in the early stage, which helped to start specific medicamental treatment with the transthyretin stabilizer tafamidis. : Our objective is to highlight the early recognition and specific medicamental treatment of cardiac amyloidosis for better patient prognosis and outcomes.
心脏淀粉样变性是一种浸润性、进行性和限制型心肌病,可导致心力衰竭、降低生活质量并导致死亡。这是一种多系统疾病,由转甲状腺素蛋白突变引起,不仅与心脏疾病或腕管综合征有关,还与神经、肝脏、肺部、胃肠道、肾脏或眼部疾病有关。腕管综合征是转甲状腺素(TTR)心脏淀粉样变性的早期红旗症状;因此,可以通过对腕管松解术中采集的屈肌支持带标本进行组织学检查,对未怀疑的心脏淀粉样变性进行筛查。我们的病例强调了早期发现和准确诊断对于改善 TTR 淀粉样变性患者临床结局的重要性。
我们报告了一例 71 岁男性患者,他出现双侧腕管综合征。通过对滑膜组织进行组织学检查,在腕管松解术后发现淀粉样沉积物。患者被转至心内科进行评估。体格检查、实验室检查和心电图均未发现明显变化。通过多模态成像在早期确诊淀粉样变性,并开始使用转甲状腺素稳定剂 tafamidis 进行特异性药物治疗。
我们的目的是强调早期识别和心脏淀粉样变性的特异性药物治疗,以改善患者预后和结局。