Cardiac Amyloidosis Associated with Apolipoprotein A-IV Deposition Diagnosed by Mass Spectrometry-Based Proteomic Analysis

  • Elisabete Martins Faculty of Medicine, University of Porto, Portugal
  • Joana Urbano Department of Internal Medicine, Centro Hospitalar do Alto Minho, Viana do Castelo, Portugal
  • Sérgio Leite Department of Cardiology, Hospital Nossa Senhora Oliveira, Guimarães, Portugal
  • Adriana Pinto Department of Nuclear Medicine, Centro Hospitalar Universitário de São João, Porto, Portugal
  • Raquel Garcia Department of Cardiology, Centro Hospitalar Universitário São João, Porto, Portugal
  • Rui Bergantim Department of Hematology, Centro Hospitalar Universitário de São João, Porto, Portugal
  • Pedro Rodrigues Pereira Department of Pathology, Centro Hospitalar Universitário de São João, Porto, Portugal
  • Paulo Pinho Costa Department of Human Genetics, National Health Institute Doutor Ricardo Jorge, Porto, Portugal
  • Hugo Osório Faculty of Medicine, University of Porto, Portugal
  • Isabel Tavares Department of Nephrology, Centro Hospitalar Universitário São João, Porto, Portugal

Keywords

Amyloidosis, cardiomyopathy, heart failure, imaging, nuclear medicine, apolipoprotein

Abstract

Amyloidosis is a group of disorders characterised by the accumulation of extracellular deposits of insoluble protein aggregates. Clinical management depends on the accurate identification of the amyloid precursor and underlying cause. We describe a rare case of apolipoprotein A-IV cardiac amyloidosis, the diagnosis of which required mass spectrometry-based proteomic analysis.

VIEW THE ENTIRE ARTICLE

References

  • Benson MD, Buxbaum JN, Eisenberg DS, Merlini G, Saraiva MJM, Sekijima Y, et al. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 2018;25:215–219.

  • Gillmore JD, Maurer MS, Falk RH, Merlini G, Damy T, Dispenzieri A, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation 2016;133:2404–2412.

  • Dasari S, Amin MS, Kurtin PJ, Vrana JA, Theis JD, Grogg KL, et al. Clinical, biopsy, and mass spectrometry characteristics of renal apolipoprotein A-IV amyloidosis. Kidney Int 2016;90:658–664.

  • Wang F, Kohan AB, Lo CM, Liu M, Howles P, Tso P. Apolipoprotein A-IV: a protein intimately involved in metabolism. J Lipid Res 2015;56:1403–1418.

  • Sun Z, Larson IA, Ordovas JM, Barnard JR, Schaefer EJ. Effects of age, gender, and lifestyle factors on plasma apolipoprotein A-IV concentrations. Atherosclerosis 2000;151:381–388.

  • Bois MC, Dasari S, Mills JR, Theis J, Highsmith WE, Vrana JA, et al. Apolipoprotein A-IV-associated cardiac amyloidosis. J Am Coll Cardiol 2017;69:2248–2249.

  • Longhi S, Bonfiglioli R, Obici L, Gagliardi C, Milandri A, Lorenzini M, et al. Etiology of amyloidosis determines myocardial 99mTc-DPD uptake in amyloidotic cardiomyopathy. Clin Nucl Med 2015;40:446–447.

  • Quarta CC, Obici L, Guidalotti PL, Pieroni M, Longhi S, Perlini S, et al. High 99mTc-DPD myocardial uptake in a patient with apolipoprotein AI-related amyloidotic cardiomyopathy. Amyloid 2013;20:48–51.

  • Picken MM. Amyloidosis-where are we now and where are we heading? Arch Pathol Lab Med 2010;134:545–551.

  • Vrana JA, Theis JD, Dasari S, Mereuta OM, Dispenzieri A, Zeldenrust SR, et al. Clinical diagnosis and typing of systemic amyloidosis in subcutaneous fat aspirates by mass spectrometry-based proteomics. Haematologica 2014;99:1239–1247.
  • Published: 2019-11-27

    Issue: LATEST ONLINE (view)

    Section: Articles

    How to cite:
    Martins, E., Urbano, J., Leite, S., Pinto, A., Garcia, R., Bergantim, R., Pereira, P., Costa, P., Osório, H., & Tavares, I. (2019). Cardiac Amyloidosis Associated with Apolipoprotein A-IV Deposition Diagnosed by Mass Spectrometry-Based Proteomic Analysis. European Journal of Case Reports in Internal Medicine, 2. https://doi.org/https://doi.org/10.12890/2019_001237