Taha Ettachfini, Salim Arous and Rachida Habbal
AL-Amyloidosis is caused by a dysregulated plasma cell clone that produces light chains with a propensity to misfolding and deposition in the target organs. Cardiac involvement in AL amyloidosis is present in up to 70% of cases.
We present the case of a 76-year-old woman with a history of surgery for bilateral carpal tunnel syndrome, who presented to the emergency department with a clinical picture of decompensated heart failure. The electrocardiogram showed a low voltage in the limb leads discordant with left-ventricular concentric hypertrophy on the transthoracic echocardiography (TTE). Additionally, TTE demonstrated signs of diastolic dysfunction, mild pericardial effusion, as well as apical sparing on the peak longitudinal strain polar map. The ejection fraction was at 53%. A diagnosis of cardiac amyloidosis was suspected.
Serum Kappa and lambda free light chains were elevated with a ratio of 0,02. On nuclear scintigraphy and SPECT, there was no myocardial uptake of the radiotracer Tc99th HMDP.
Given the presence of renal involvement consisting of a nephrotic syndrom, the kidney was our biopsy site of choice. The anatomopathological study of the renal biopsy confirmed the diagnosis of AL-amyloidosis. A bone marrow aspirate ruled out concomitant multiple myeloma.
For management, the patient received guideline directed medical therapy for HFpEF, along with disease specific therapy consisting of chemotherapy with bortezomib, cyclophosphamide and dexamethasone.
Our case highlights the importance of integrating cardiac and extracardiac signs in raising the suspicion of cardiac amyloidosis and prompting specific investigations.
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