PDF(Pubmed)
Abstract：
Transthyretin cardiac amyloidosis (ATTR-CA) is a condition characterized by extracellular deposition of misfolded transthyretin proteins in the myocardium and has been historically difficult to diagnose due to diverse clinical manifestations and nonspecific, variable electrocardiogram (ECG) and echocardiogram findings. Advancements in noninvasive cardiac imaging have led to significant increases in diagnoses of ATTR-CA. Once thought to be a rare condition, there is growing evidence to suggest that ATTR-CA is more prevalent than previously understood, prompting the need for early diagnosis and intervention. We outline the case of a 78-year-old male who presented to the emergency department with chest discomfort, shortness of breath, dizziness, and diaphoresis. He was found to have severe coronary artery disease (CAD) and intermittent complete heart block. Cardiac dysfunction was unable to be resolved by percutaneous coronary intervention (PCI) and thus the patient was referred for coronary artery bypass grafting (CABG). Intraoperatively, the patient\'s heart was found to be abnormally thickened and fibrosed. Biopsy of the cardiac tissue and evaluation using technetium-99m pyrophosphate scintigraphy, single-photon emission computed tomography, and liquid chromatography-tandem mass spectrometry revealed ATTR-CA. There is a need for fast and low-cost screening tools to allow for early identification of the disease. Diagnostic clues for cardiac amyloidosis include the presence of carpal tunnel syndrome, lumbar spinal stenosis, atrial fibrillation, treatment-resistant heart failure with preserved ejection fraction, and a thickened left ventricular wall. Given the presence of these red flag symptoms, clinicians should have a heightened index of suspicion for ATTR cardiac amyloidosis in elderly patients even when presenting in acute settings.
摘要：
转甲状腺素蛋白心脏淀粉样变性（ATTR-CA）是一种以心肌中错误折叠的转甲状腺素蛋白在细胞外沉积为特征的疾病，由于临床表现多样和非特异性，历史上难以诊断。可变心电图（ECG）和超声心动图检查结果。无创心脏成像的进步导致ATTR-CA的诊断显着增加。曾经被认为是一种罕见的疾病，越来越多的证据表明ATTR-CA比以前理解的更普遍，提示需要早期诊断和干预。我们概述了一名78岁的男性因胸部不适出现在急诊科的情况，呼吸急促,头晕,和出汗。他被发现患有严重的冠状动脉疾病（CAD）和间歇性完全性心脏传导阻滞。心脏功能障碍无法通过经皮冠状动脉介入治疗（PCI）解决，因此患者被转诊为冠状动脉旁路移植术（CABG）。术中,患者的心脏被发现异常增厚和纤维化。心脏组织活检和使用99m焦磷酸盐闪烁显像进行评估，单光子发射计算机断层扫描，液相色谱-串联质谱显示ATTR-CA。需要快速且低成本的筛查工具以允许疾病的早期识别。心脏淀粉样变性的诊断线索包括腕管综合征的存在，腰椎管狭窄症,心房颤动,射血分数保留的难治性心力衰竭，左心室壁增厚.考虑到这些危险信号的症状,在老年患者中,即使在急性环境中出现ATTR心脏淀粉样变性,临床医师也应该有更高的怀疑指数.
