Badhey Narain, Nevias-Ida Antonia, Badhey Hemanth
Cardiology, Touro College of Osteopathic Medicine, New York, USA.
Emergency Medicine, Touro College of Osteopathic Medicine, New York, USA.
Cureus. 2024 May 1;16(5):e59466. doi: 10.7759/cureus.59466. eCollection 2024 May.
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.
转甲状腺素蛋白心脏淀粉样变（ATTR-CA）是一种以错误折叠的转甲状腺素蛋白在心肌细胞外沉积为特征的疾病，由于其临床表现多样，心电图（ECG）和超声心动图检查结果不特异且多变，一直以来诊断困难。无创心脏成像技术的进步使得ATTR-CA的诊断率显著提高。ATTR-CA曾被认为是一种罕见疾病，然而，越来越多的证据表明其实际患病率高于以往认知，这促使了早期诊断和干预的必要性。我们概述了一例78岁男性患者的病例，该患者因胸部不适、呼吸急促、头晕和出汗就诊于急诊科。检查发现他患有严重冠状动脉疾病（CAD）和间歇性完全性心脏传导阻滞。经皮冠状动脉介入治疗（PCI）未能解决其心脏功能障碍，因此患者被转诊进行冠状动脉旁路移植术（CABG）。术中发现患者心脏异常增厚并纤维化。心脏组织活检以及使用锝-99m焦磷酸盐闪烁扫描、单光子发射计算机断层扫描和液相色谱-串联质谱分析显示为ATTR-CA。需要快速且低成本的筛查工具以便早期识别该疾病。心脏淀粉样变的诊断线索包括腕管综合征、腰椎管狭窄、心房颤动、射血分数保留的难治性心力衰竭以及左心室壁增厚。鉴于存在这些警示症状，即使在急性发病情况下，临床医生对老年患者的ATTR心脏淀粉样变也应提高怀疑指数。
