A Rare Case of Cardiac Amyloidosis Presenting as Pedal Edema: A Case Report and Review of Literature

A BSTRACT Cardiac amyloidosis is a rare disorder characterized by the abnormal deposition of misfolded proteins in the myocardium, leading to restrictive cardiomyopathy and heart failure. We present a rare case of a 56-year-old male with a history of Hailey-Hailey disease and primary hypertension who presented with dyspnea on exertion, angina, and progressive bilateral pedal edema. Diagnostic workup revealed findings suggestive of restrictive cardiomyopathy with pulmonary hypertension. Cardiac MRI showed cardiac remodeling, circumferential symmetrical hypertrophy, and altered contrast kinetics. Endomyocardial biopsy demonstrated kappa restriction and pale eosinophilic extracellular material, indicative of amyloidosis. Bone marrow biopsy revealed clonal plasma cell proliferation with CD38 positivity and kappa restriction, confirming the diagnosis of AL amyloidosis. The patient was treated with daratumumab, bortezomib, cyclophosphamide, dexamethasone, and guideline-directed heart failure therapy. This case highlights the diagnostic challenges posed by the atypical presentation of cardiac amyloidosis with isolated pedal edema and emphasizes the importance of considering this rare entity in the differential diagnosis. Early recognition and appropriate management are crucial to improve patient outcomes in this potentially fatal condition.