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Multimodality imaging approach to Fabry cardiomyopathy: Any role for nuclear cardiology?

Journal of Nuclear Cardiology (2020)Cite this article

Abstract

Anderson–Fabry disease (AFD) is a multisystem X-linked disorder of lipid metabolism frequently associated with progressive glycosphingolipid accumulation in cardiac, renal, and nervous cells. The diagnosis of AFD is usually assessed by enzyme assay and genetic tests, but advanced cardiac imaging can be useful in detecting early signs of the disease. Echocardiography and cardiac magnetic resonance are the first-line imaging modalities to investigate cardiac involvement in AFD, but the recent introduction of new molecular and hybrid imaging techniques opens to a wider range of diagnostic applications. This article aims to provide an overview of nuclear cardiology techniques in diagnosis and clinical management of AFD.

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Figure 1
Figure 2

Abbreviations

AFD:

Anderson–Fabry disease

Gb3:

Globotriaosylceramide

LV:

Left ventricular

LVH:

Left ventricular hypertrophy

CMR:

Cardiac magnetic resonance

LGE:

Late-gadolinium enhancement

ERT:

Enzyme replacement therapy

FDG:

Fluorodeoxyglucose

PET:

Positron emission tomography

STIR:

Short time inversion recovery

COV:

Coefficient of variation

SUV:

Standardized uptake value

MIBG:

Metaiodobenzylguanidine

CMD:

Coronary microvascular dysfunction

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Disclosure

W. Acampa, A. D’Antonio, M. Imbriaco, A. Pisani, and A. Cuocolo declare that they have no financial conflict of interest.

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Affiliations

  1. Department of Advanced Biomedical Sciences, University of Naples “Federico II”, Via Pansini 5, 80131, Naples, Italy

    Wanda Acampa MD, PhD, Adriana D’Antonio MD, Massimo Imbriaco MD & Alberto Cuocolo MD

  2. Department of Public Health, University of Naples Federico II, Naples, Italy

    Antonio Pisani MD

Authors
  1. Wanda Acampa MD, PhD
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  2. Adriana D’Antonio MD
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  3. Massimo Imbriaco MD
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  4. Antonio Pisani MD
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  5. Alberto Cuocolo MD
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Correspondence to Alberto Cuocolo MD.

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Acampa, W., D’Antonio, A., Imbriaco, M. et al. Multimodality imaging approach to Fabry cardiomyopathy: Any role for nuclear cardiology?. J. Nucl. Cardiol. (2020). https://doi.org/10.1007/s12350-020-02124-1

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  • DOI: https://doi.org/10.1007/s12350-020-02124-1

Keywords

  • Cardiomyopathy
  • MRI
  • PET
  • hybrid imaging
  • multimodality