Cardinal lessons in cardiac amyloidosis: diagnostic pitfalls across three cases-a case report
Abstract
Background: Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy caused by extracellular deposition of misfolded amyloid fibrils within the myocardium, resulting in progressive ventricular wall thickening and heart failure. Transthyretin (ATTR) and immunoglobulin light-chain (AL) amyloidosis account for ∼95% of cases. Despite advances in diagnostic imaging and laboratory testing, CA remains underrecognized, often leading to misdiagnosis or delayed diagnosis. Timely and accurate diagnosis, including amyloid subtyping, is critical to guide appropriate therapy and improve clinical outcomes, as prognosis and management vary substantially among amyloid subtypes.
Case summary: We present a three-case series illustrating distinct diagnostic and clinical challenges in CA, including a false-positive diagnosis of ATTR cardiomyopathy (ATTR-CM) based on planar technetium-99m pyrophosphate (PYP) scintigraphy that was subsequently ruled out by single-photon emission computed tomography (SPECT) imaging and further evaluation, a delayed diagnosis of AL amyloidosis in a patient with progressive heart failure initially attributed to non-ischaemic cardiomyopathy, and recurrent left atrial appendage thrombus despite therapeutic anticoagulation in a patient with AL amyloidosis.
Discussion: These three cases demonstrate the broad spectrum of diagnostic and clinical challenges encountered in CA. The first case underscores the importance of SPECT imaging in differentiating true myocardial…
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Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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