Nuzzi Vincenzo, Porcari Aldostefano, Gigli Marta, Zaja Francesco, Dore Franca, Bussani Rossana, Sinagra Gianfranco, Merlo Marco
Center for Diagnosis and Treatment of Cardiomyopathies, Cardiothoracovascular Department, Azienda Sanitaria Universitaria Integrata Giuliano Isontina (ASUGI), University of Trieste, Via Valdoni 7, 34149, Trieste, Italy.
Department of Hematology, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), Strada di Fiume 447, 34149, Trieste, Italy.
Eur Heart J Case Rep. 2023 Feb 13;7(3):ytad072. doi: 10.1093/ehjcr/ytad072. eCollection 2023 Mar.
Cardiac involvement in amyloid light-chain (AL) amyloidosis usually represents a brick in the wall of a multi-system disease. The presence of cardiac deposition of free light chains (FLCs) is the main determinant of survival. Isolated cardiac AL is an uncommon scenario characterized by a challenging diagnostic and therapeutic workup.
A 57-year-old asymptomatic man was presented for an incidental finding of myocardial necrosis at the electrocardiogram (ECG) performed for newly diagnosed arterial hypertension. Alongside signs of previous myocardial infarction, transthoracic echocardiography showed a severely increased left ventricular (LV) wall thickness not consistent with ECG voltages, segmental akinaesia with normal LV systolic function with 'apical sparing' pattern. Laboratory assessment showed an unexpectedly high level of natriuretic peptide and persistently abnormal troponin in the absence of symptoms or signs of heart failure or ongoing ischaemia. Coronary angiogram confirmed the coronary artery disease. Before revascularization, a complete diagnostic workup was carried. Serum electrophoresis detected a monoclonal gammopathy that was further investigated by serum immunofixation, revealing high lambda FLCs concentration. Fat pad, bone marrow, and salivary glands biopsies resulted negative for amyloid deposition. Finally, endomyocardial biopsy was consistent with AL amyloidosis. Urgent percutaneous revascularization was performed, and the patients was timely started on chemotherapy.
The diagnosis of isolated cardiac AL amyloidosis is challenging and carries important therapeutic implications. As the short-term prognosis might be severely compromised, an accurate diagnostic flowchart has to be systematically pursued to obtain a precise diagnosis and address the optimal, tailored management.
心脏受累于轻链型（AL）淀粉样变性通常是多系统疾病的一部分。游离轻链（FLC）在心脏的沉积是生存的主要决定因素。孤立性心脏AL是一种罕见情况，其诊断和治疗过程具有挑战性。
一名57岁无症状男性因新诊断的动脉高血压进行心电图（ECG）检查时意外发现心肌坏死。除了既往心肌梗死的迹象外，经胸超声心动图显示左心室（LV）壁厚度严重增加，与ECG电压不一致，节段性运动减弱，LV收缩功能正常，呈“心尖保留”模式。实验室评估显示，在没有心力衰竭或持续缺血的症状或体征的情况下，利钠肽水平意外升高，肌钙蛋白持续异常。冠状动脉造影证实患有冠状动脉疾病。在血运重建前，进行了全面的诊断检查。血清电泳检测到单克隆丙种球蛋白病，通过血清免疫固定进一步检查，发现λFLC浓度升高。脂肪垫、骨髓和唾液腺活检的淀粉样沉积结果为阴性。最后，心内膜活检符合AL淀粉样变性。紧急进行了经皮血运重建，并及时开始对患者进行化疗。
孤立性心脏AL淀粉样变性的诊断具有挑战性，且具有重要的治疗意义。由于短期预后可能会严重受损，因此必须系统地遵循准确的诊断流程，以获得精确诊断并进行最佳的个体化管理。
