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Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation

Wechalekar, AD; Offer, M; Gillmore, JD; Hawkins, PN; Lachmann, HJ; (2009) Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation. NAT CLIN PRACT CARD , 6 (2) 128 - 133. 10.1038/ncpcardio1423.

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Abstract

Background A 46-year-oldAfro-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.

Type: Article
Title: Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation
DOI: 10.1038/ncpcardio1423
Keywords: AL amyloidosis, cardiac amyloidosis, free light chain, monoclonal gammopathy, transthyretin amyloidosis, LIGHT-CHAIN AMYLOIDOSIS, AL-AMYLOIDOSIS, HEART-TRANSPLANTATION, CHEMOTHERAPY
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
URI: http://discovery.ucl.ac.uk/id/eprint/93093
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