Fox Nolan R, Fox Nicholas J, Newman Emily, Osler Brian, Storozynsky Eugene
Division of Cardiology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
Division of Cardiology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
JACC Case Rep. 2025 May 28;30(12):103373. doi: 10.1016/j.jaccas.2025.103373. Epub 2025 Apr 23.
Although endomyocardial biopsy (EMB) is the criterion standard for diagnosis of infiltrative cardiac disease, cardiac sarcoidosis (CS) or cardiac amyloid can be diagnosed noninvasively through both clinical suspicion and advanced imaging techniques of cardiac magnetic resonance imaging (CMR) or cardiac positron emission tomography (PET).
A 79-year-old man with mediastinal sarcoidosis presented with new chest pain and a right bundle branch block, raising concern for CS. CMR and cardiac PET also supported the diagnosis of CS, but EMB ultimately revealed transthyretin amyloid cardiomyopathy. The patient was started on tafamidis and showed improvement at 1-year follow-up.
This case shows that cardiac amyloidosis can masquerade as CS when following conventional diagnostic pathways. Without EMB, this patient would have been treated with steroids for CS, which is not a risk-free therapy.
TAKE-HOME MESSAGE: It is possible to misdiagnose CS in the setting of amyloidosis when using advanced noninvasive imaging techniques such as CMR and cardiac PET.
虽然心内膜心肌活检（EMB）是诊断浸润性心肌病的标准方法，但心脏结节病（CS）或心脏淀粉样变性可通过临床怀疑以及心脏磁共振成像（CMR）或心脏正电子发射断层扫描（PET）等先进成像技术进行无创诊断。
一名患有纵隔结节病的79岁男性出现新发胸痛和右束支传导阻滞，引发了对CS的担忧。CMR和心脏PET也支持CS的诊断，但EMB最终显示为转甲状腺素蛋白淀粉样变性心肌病。该患者开始使用他氟米特治疗，在1年的随访中病情有所改善。
该病例表明，按照传统诊断途径，心脏淀粉样变性可能会伪装成CS。若不进行EMB，该患者可能会接受针对CS的类固醇治疗，而这并非无风险的治疗方法。
在使用CMR和心脏PET等先进无创成像技术时，淀粉样变性情况下有可能误诊CS。
