Kellens Michiel, Nijst Petra, Ameloot Koen, Mullens Wilfried, Bertrand Philippe, Jannis Levi, Van Dorpe Jo, Dupont Matthias
University of Antwerp, Prinsstraat 13, 2000 Antwerp, Belgium.
Ziekenhuis Oost Limburg, University Hasselt, Synapspark 1, 3600 Genk, Belgium.
Eur Heart J Case Rep. 2024 Nov 9;8(11):ytae568. doi: 10.1093/ehjcr/ytae568. eCollection 2024 Nov.
Amyloidosis is a systemic disorder characterized by the deposition of misfolded proteins in various organs. While cardiac transthyretin amyloidosis (ATTR) is well-recognized, pulmonary involvement is rare and often overlooked in clinical practice.
We present a case of severe, and ultimately fatal, cardiac and pulmonary ATTR amyloidosis in a 67-year-old male. The patient's initial complaints included dyspnoea and exercise intolerance. Echocardiography revealed isolated concentric left ventricular hypertrophy, and subsequent cardiac MRI suggested cardiac amyloidosis. Additional diagnostic steps, including bone scan and endomyocardial tissue biopsy, confirmed the diagnosis of ATTR amyloidosis. Intriguingly, this case also unveiled concurrent pulmonary involvement, characterized by ground-glass opacities, lymphadenopathy, and impaired lung function. Despite treatment with tafamidis, the patient's condition deteriorated swiftly. He was admitted to the hospital four months after his initial presentation, and ultimately succumbed to therapy-resistant respiratory distress and heart failure. Post-mortem examination revealed extensive cardiac and pulmonary interstitial ATTR amyloidosis, with the lung exhibiting a fibrotic stage of diffuse alveolar damage.
This case highlights pulmonary involvement as a potential contributor to the clinical picture of ATTR amyloidosis. It also emphasizes the necessity for a multidisciplinary approach, heightened awareness, and further research to enhance the detection and management of pulmonary involvement in ATTR amyloidosis.
淀粉样变性是一种全身性疾病，其特征是错误折叠的蛋白质在各个器官中沉积。虽然心脏转甲状腺素蛋白淀粉样变性（ATTR）已广为人知，但肺部受累情况罕见，在临床实践中常被忽视。
我们报告一例67岁男性严重且最终致命的心脏和肺部ATTR淀粉样变性病例。患者最初的症状包括呼吸困难和运动不耐受。超声心动图显示孤立的同心性左心室肥厚，随后的心脏磁共振成像提示心脏淀粉样变性。包括骨扫描和心内膜组织活检在内的进一步诊断步骤确诊为ATTR淀粉样变性。有趣的是，该病例还发现同时存在肺部受累，表现为磨玻璃影、淋巴结肿大和肺功能受损。尽管使用了塔法米迪斯进行治疗，但患者病情迅速恶化。他在初次就诊四个月后入院，最终死于难治性呼吸窘迫和心力衰竭。尸检显示广泛的心脏和肺部间质ATTR淀粉样变性，肺部呈现弥漫性肺泡损伤的纤维化阶段。
该病例突出了肺部受累是ATTR淀粉样变性临床症状的一个潜在因素。它还强调了采取多学科方法、提高认识以及进一步研究以加强对ATTR淀粉样变性肺部受累的检测和管理的必要性。
