Patel Akshaye, Stringer Immy, Edhem Leyan, Eni Gedoni, Delamere Rebecca, Ahmed Adnan, Solano Jhiamluka
Internal Medicine, Northern Lincolnshire and Goole NHS Foundation Trust, Scunthorpe, GBR.
General Internal Medicine, Scunthorpe General Hospital, Scunthorpe, GBR.
Cureus. 2025 Aug 11;17(8):e89851. doi: 10.7759/cureus.89851. eCollection 2025 Aug.
We report the case of an 82-year-old male with a history of bronchiectasis, asthma, and atrial fibrillation, who presented with progressive exertional dyspnoea, peripheral oedema, and recurrent heart failure exacerbations. Initial management targeted presumed pulmonary decompensation. Elevated natriuretic peptides, echocardiographic evidence of concentric left ventricular hypertrophy with preserved ejection fraction, and progressive conduction abnormalities prompted further evaluation. A 99mTc-DPD scintigraphy scan revealed Perugini grade 3 myocardial uptake consistent with wild-type transthyretin (ATTRwt) cardiac amyloidosis. Serum and urine studies excluded light-chain amyloidosis. Despite the presence of classical 'red flag' features, including atrial fibrillation, carpal tunnel syndrome, and unexplained left ventricular hypertrophy, diagnosis was significantly delayed by approximately 18 months, from initial symptom onset to definitive diagnosis, during which recurrent hospitalisations and progressive functional decline occurred. Earlier features were overlooked due to the attribution of symptoms to coexistent pulmonary disease and chronic kidney dysfunction. This case highlights the diagnostic challenges posed by ATTRwt, particularly in multimorbid older adults. Overlapping features with respiratory and renal pathology, as well as age-associated cardiovascular changes, obscure the clinical picture. Awareness of hallmark extracardiac features, systematic use of cardiac imaging, and prompt nuclear scintigraphy are essential for timely diagnosis. Early identification may enable consideration of disease-modifying therapy and improved symptom management.
我们报告了一例82岁男性病例，该患者有支气管扩张、哮喘和心房颤动病史，表现为进行性劳力性呼吸困难、外周水肿和反复的心衰加重。初始治疗针对推测的肺功能失代偿。利钠肽升高、超声心动图显示射血分数保留的同心性左心室肥厚以及进行性传导异常促使进一步评估。99mTc-DPD闪烁扫描显示佩鲁吉尼3级心肌摄取，符合野生型转甲状腺素蛋白（ATTRwt）心脏淀粉样变性。血清和尿液检查排除了轻链淀粉样变性。尽管存在包括心房颤动、腕管综合征和不明原因的左心室肥厚等典型的“红旗”特征，但从最初症状出现到明确诊断，诊断显著延迟了约18个月，在此期间出现了反复住院和功能逐渐下降。由于将症状归因于并存的肺部疾病和慢性肾功能不全，早期特征被忽视。该病例突出了ATTRwt带来的诊断挑战，尤其是在患有多种疾病的老年人中。与呼吸和肾脏病理学的重叠特征，以及与年龄相关的心血管变化，使临床情况变得模糊。认识标志性的心外特征、系统使用心脏成像以及及时进行核闪烁扫描对于及时诊断至关重要。早期识别可能有助于考虑疾病修饰治疗并改善症状管理。
