Background and Objectives: Cardiac amyloidosis is an infiltrative, progressive, and restrictive cardiomyopathy that leads to heart failure, reduces life quality, and causes death. This is a multisystem disorder caused by mutations of the transthyretin protein and is associated not only with cardiac diseases or carpal tunnel syndrome but also with nerve, liver, lung, gastrointestinal tract, kidney, or eye pathologies. Carpal tunnel syndrome is an early red-flag symptom of transthyretin (TTR) cardiac amyloidosis; therefore, screening for unsuspected cardiac amyloidosis can be performed through histological testing of flexor retinaculum specimens gathered during carpal tunnel release surgery. Our case highlights that early detection and accurate diagnosis of a disease are important factors for improving clinical outcomes in patients with TTR amyloidosis. Case Summary: We report the case of a 71-year-old man who presented with bilateral carpal tunnel syndrome. Amyloid deposits were detected after carpal tunnel release surgery through histological testing of the synovial tissue. The patient was sent for a cardiological evaluation. Physical examination, laboratory tests, and the ECG revealed no significant changes. The diagnosis of amyloidosis was confirmed with multimodality imaging in the early stage, which helped to start specific medicamental treatment with the transthyretin stabilizer tafamidis. Conclusions: Our objective is to highlight the early recognition and specific medicamental treatment of cardiac amyloidosis for better patient prognosis and outcomes.
Keywords: cardiac amyloidosis; carpal tunnel syndrome; case report; rare diseases; transthyretin.