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Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation

Nature Clinical Practice Cardiovascular Medicine volume 6, pages 128–133 (2009)Cite this article

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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Figure 1: A 12-lead electrocardiogram showing low-voltage QRS complexes in the limb leads and poor R-wave progression in the chest leads, which suggest an infiltrative cardiomyopathy.
Figure 2: A transthoracic echocardiogram showing concentrically thickened ventricular walls and biatrial dilatation, which, along with evidence for severe diastolic dysfunction on Doppler studies and the low-voltage electrocardiogram, are suggestive of cardiac amyloidosis.
Figure 3: Whole-body scintigraphy with radiolabeled serum amyloid P component.
Figure 4: Cardiac biopsy histology.

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Acknowledgements

The authors are supported by an MRC Programme Grant G97900510 (PNH), Wolfson Foundation, UCL Amyloidosis Research Fund and NHS Research and Development Funds.

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Authors and Affiliations

  1. Department of Medicine (Hampstead Campus), AD Wechalekar, JD Gillmore and HJ Lachmann are Senior Lecturers in Medicine, M Offer is a Clinical Research Fellow, and PN Hawkins is Professor of Medicine at the National Amyloidosis Centre, Centre for Amyloidosis & Acute Phase Proteins, Royal Free and University College Medical School, London, UK.,

    Ashutosh D Wechalekar, Mark Offer, Julian D Gillmore, Philip N Hawkins & Helen J Lachmann

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  1. Ashutosh D Wechalekar
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  2. Mark Offer
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Correspondence to Ashutosh D Wechalekar.

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The authors declare no competing financial interests.

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Wechalekar, A., Offer, M., Gillmore, J. et al. Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation. Nat Rev Cardiol 6, 128–133 (2009). https://doi.org/10.1038/ncpcardio1423

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