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  • Title: Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation.
    Author: Wechalekar AD, Offer M, Gillmore JD, Hawkins PN, Lachmann HJ.
    Journal: Nat Clin Pract Cardiovasc Med; 2009 Feb; 6(2):128-33. PubMed ID: 19079367.
    Abstract:
    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.
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