Key result
CyBorD followed by autologous stem cell transplantation achieves hematologic remission and resolves HFpEF symptoms.
Why the study?
Cardiac involvement in light-chain amyloidosis can present as HFpEF and restrictive cardiomyopathy, making it an important consideration in patients with unexplained HFpEF who lack conventional risk factors.
Case Report (n=1)
No
This case demonstrates the importance of suspecting cardiac AL amyloidosis and utilizing cardiac MRI in younger patients presenting with unexplained HFpEF lacking conventional risk factors or classic echocardiographic left ventricular hypertrophy.
May prompt amyloid evaluation in unexplained HFpEF; leaves open whether CyBorD plus ASCT produces durable cardiac recovery.
Light-chain (AL) amyloidosis results from a clonal plasma cell dyscrasia producing misfolded immunoglobulin light chains and may involve multiple organs, including the heart. Cardiac involvement may present as heart failure with preserved ejection fraction (HFpEF) and restrictive cardiomyopathy. We report a 46-year-old woman with no known comorbidities who presented with bilateral leg edema and progressive dyspnea. Cardiac MRI, performed because of disproportionate clinical findings in the absence of conventional HFpEF risk factors, revealed diffuse subendocardial late gadolinium enhancement, raising suspicion of cardiac amyloidosis. Congo red–positive abdominal fat pad biopsy confirmed amyloidosis, and subsequent hematologic evaluation demonstrated low-burden plasma cell dyscrasia with 10% bone marrow plasma cells, an abnormal free light-chain ratio, and 1q21 amplification. The patient received six cycles of cyclophosphamide, bortezomib, and dexamethasone followed by autologous stem cell transplantation, achieving hematologic remission with resolution of cardiac symptoms. This case highlights the importance of considering cardiac amyloidosis in unexplained HFpEF without conventional risk factors and the diagnostic value of cardiac MRI.
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Subbiah et al. (2026) conducted a case report in Cardiac AL amyloidosis presenting as HFpEF with low-burden plasma cell dyscrasia (1q21 amplification) (n=1). Cyclophosphamide, bortezomib, and dexamethasone (CyBorD) followed by autologous stem cell transplantation (ASCT) was evaluated on Hematologic remission and resolution of clinical cardiac symptoms. Six cycles of CyBorD followed by autologous stem cell transplantation achieved hematologic remission (<5% bone marrow plasma cells) and complete resolution of HFpEF symptoms in a 46-year-old woman.
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