Uribe-Buritica Francisco L, Cárdenas-Marín Paula Andrea, López-Ponce de León Juan David
Fundación Valle del Lili, Centro de Investigaciones Clínicas, Cali, Colombia.
Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.
Am J Case Rep. 2024 Dec 9;25:e943811. doi: 10.12659/AJCR.943811.
BACKGROUND Amyloidosis is a group of diseases characterized by the pathological deposition of misfolded proteins in various organs, including the heart, leading to structural and functional alterations. The primary types of cardiac amyloidosis are light chain amyloidosis and transthyretin amyloidosis. Early diagnosis is critical for effective management. This report describes the case of a 68-year-old Colombian man presenting with heart failure and a diagnosis of cardiac amyloidosis. CASE REPORT A 68-year-old man presented with heart failure symptoms, biceps tendon rupture, neuropathic pain in the extremities, and an electrocardiogram showing low QRS voltage and a pseudo-infarct pattern. Transthoracic echocardiogram revealed a left ventricular ejection fraction of 30%, severely thickened walls with a speckled appearance, a global longitudinal strain of -6.2% in a bull's eye pattern, and a left ventricular posterior wall thickness of 21.3 mm. Cardiac magnetic resonance imaging showed severe symmetric hypertrophy, moderate global dysfunction, and an elevated native T1 value of 1225 milliseconds. Post-gadolinium T1 mapping revealed a significantly increased extracellular volume of 72%. Perugini grade 3 pyrophosphate scintigraphy, negative hematological tests, and endomyocardial biopsy confirmed the diagnosis of amyloidosis, without monoclonal spikes. Genetic testing identified a heterozygous c.424G>A (p.Val142Ile) variant in the transthyretin gene, consistent with variant transthyretin amyloidosis. CONCLUSIONS Amyloidosis may affect up to 13% of patients with heart failure and preserved ejection fraction. Early recognition of red flags and implementation of a diagnostic algorithm are crucial for timely intervention in this population.
淀粉样变性是一组以错误折叠的蛋白质在包括心脏在内的各种器官中病理性沉积为特征的疾病，可导致结构和功能改变。心脏淀粉样变性的主要类型是轻链淀粉样变性和转甲状腺素蛋白淀粉样变性。早期诊断对于有效治疗至关重要。本报告描述了一名68岁哥伦比亚男性患者，其表现为心力衰竭并被诊断为心脏淀粉样变性。病例报告：一名68岁男性出现心力衰竭症状、肱二头肌肌腱断裂、四肢神经性疼痛，心电图显示QRS波低电压和假性梗死图形。经胸超声心动图显示左心室射血分数为30%，室壁严重增厚且呈斑点状外观，整体纵向应变呈靶心样为-6.2%，左心室后壁厚度为21.3毫米。心脏磁共振成像显示严重的对称性肥厚、中度整体功能障碍，固有T1值升高至1225毫秒。钆增强后T1映射显示细胞外容积显著增加至72%。佩鲁吉尼3级焦磷酸盐闪烁扫描、血液学检查阴性以及心内膜活检确诊为淀粉样变性，无单克隆峰。基因检测在转甲状腺素蛋白基因中鉴定出一个杂合的c.424G>A（p.Val142Ile）变异，符合变异型转甲状腺素蛋白淀粉样变性。结论：淀粉样变性可能影响高达13%的射血分数保留的心力衰竭患者。早期识别警示信号并实施诊断算法对于该人群的及时干预至关重要。
