Background: A 46-year-old Afro-Caribbean man presented with progressive dyspnea and recurrent syncope. Clinical examination revealed evidence of biventricular failure.
Investigations: Electrocardiography, echocardiography, cardiac biopsy, measurement of serum levels of free light chain, scintigraphy with radiolabeled serum amyloid P component, transthyretin gene sequencing and immunohistochemistry.
Diagnosis: Cardiac acquired monoclonal immunoglobulin-light-chain amyloidosis with the incidental presence of the amyloidogenic transthyretin Val122Ile mutation.
Management: The patient was referred for consideration of urgent cardiac transplantation and subsequent autologous stem cell transplantation. Unfortunately, he died suddenly within a few weeks of referral.