CASE REPORT article
Front. Cardiovasc. Med.
Sec. Heart Failure and Transplantation
This article is part of the Research TopicExploring Hypertrophic Cardiomyopathy and Cardiac AmyloidosisView all 5 articles
Challenges in the Diagnosis and Treatment of Cardiac Amyloidosis: A Case Misdiagnosed as Dual Cardiac Amyloidosis
Provisionally accepted
- 1Yunnan Fuwai Cardiovascular Hospital, Kunming, China
- 2Chinese Academy of Medical Sciences and Peking Union Medical College Fuwai Hospital, Beijing, China
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Cardiac amyloidosis (CA) is a pathologic condition characterized by the cardiac deposition of insoluble misfolded proteins, often resulting in nonspecific symptoms that complicate diagnosis. Although advances in diagnostic techniques have improved the diagnostic rates, accurate identification of amyloid fibril deposits remains challenging. Here, we present a 52-year-old Chinese woman who was initially diagnosed with both wild-type cardiac transthyretin amyloidosis (ATTR-CA) and lambda cardiac light-chain amyloidosis (AL-CA) after the standardized diagnostic workup. Subsequent liquid chromatography-tandem mass spectrometry, however, identified lambda light chains as the primary amyloidogenic protein, confirming a final diagnosis of lambda AL-CA. The diagnostic process was further complicated when a review of 99mTc-pyrophosphate scintigraphy turned strongly positive after an eleven-month interval. Following the patient's refusal of chemotherapy, her heart failure progressively worsened, requiring the support of vasoactive and inotropic drugs, and she ultimately succumbed to cardiogenic shock 17 months after initial presentation. This case underscores the diagnostic challenges and necessity of sophisticated techniques for accurately typing CA.
Keywords: Cardiac amyloidosis, transthyretin amyloidosis, Immunoglobulin light chain amyloidosis, 99mTechnetium Pyrophosphate, diagnosis
Received: 25 Aug 2025; Accepted: 28 Oct 2025.
Copyright: © 2025 Ma, Liu, Liu, Cai and Yang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Wenhui Yang, yangwenhui@kmmu.edu.cn
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