Bălinișteanu Anca, Rimbaș Roxana Cristina, Nicula Alina Ioana, Piroiu Diana, Dumitru Adrian, Ene Amalia, Vinereanu Dragoș
Cardiology Department, University Emergency Hospital, 050098 Bucharest, Romania.
Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
J Clin Med. 2025 May 19;14(10):3547. doi: 10.3390/jcm14103547.
A 43-year-old male presented with neurological symptoms and asymptomatic cardiac dysfunction, left ventricular hypertrophy, and impaired global longitudinal strain with apical sparing, associated with elevated NT-proBNP. Multimodality imaging (bone scintigraphy and cardiac magnetic resonance) revealed cardiac amyloid deposition. Genetic testing confirmed variant transthyretin amyloidosis (ATTR) with mixed phenotype. Treatment with tafamidis 20 mg for stage I polyneuropathy, available at that moment, was initiated with good neurological outcome. Three years later, cardiac function deteriorated, following a moderate COVID-19 infection, with heart failure symptoms and reduced ventricular and atrial functions. For progressive ATTR cardiomyopathy, we intensified therapy to tafamidis free acid 61 mg, associated with SGLT2 inhibitor, spironolactone, and furosemide with subsequent improvements of symptoms and stabilization of imaging findings. This case emphasizes the importance of multimodal imaging in early detection, monitoring, and guiding individualized management in ATTR cardiomyopathy.
一名43岁男性出现神经症状，伴有无症状性心脏功能障碍、左心室肥厚、整体纵向应变受损且心尖部保留，同时NT-proBNP升高。多模态成像（骨闪烁显像和心脏磁共振成像）显示心脏淀粉样蛋白沉积。基因检测证实为伴有混合表型的变异型转甲状腺素蛋白淀粉样变性（ATTR）。当时开始使用20mg他氟米特治疗I期多发性神经病，神经功能预后良好。三年后，在中度新型冠状病毒肺炎感染后，心脏功能恶化，出现心力衰竭症状，心室和心房功能减退。对于进展性ATTR心肌病，我们将治疗强化为61mg他氟米特游离酸，并联合使用钠-葡萄糖协同转运蛋白2抑制剂、螺内酯和呋塞米，随后症状改善，影像学检查结果稳定。该病例强调了多模态成像在ATTR心肌病的早期检测、监测和指导个体化治疗中的重要性。
