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Multimodality imaging for diagnosis of subclinical hereditary transthyretin cardiac amyloidosis

  • Case Presentation Corner
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Journal of Nuclear Cardiology Aims and scope

Abstract

We present a case of a patient with worsening visual acuity and dense vitreal debris who was found to have vitreal transthyretin amyloid (ATTR) infiltration. Cardiac workup, performed to identify systemic amyloidosis, demonstrated focal myocardial amyloid infiltration on pyrophosphate (PYP) scintigraphy and cardiac magnetic resonance (CMR), resulting in a diagnosis of subclinical ATTR cardiac amyloidosis (ATTR-CA). Patient was identified as a carrier of p.S70R mutation which results in an aggressive ATTR phenotype. Patient is tolerating transthyretin silencer therapy well. Through this case, we discuss the role of a multimodality imaging approach for the diagnosis of subclinical ATTR-CA.

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Abbreviations

AL:

Light chain amyloidosis

ATTR:

Transthyretin amyloidosis

CA:

Cardiac amyloidosis

CMR:

Cardiac magnetic resonance

ECV:

Extracellular volume

GLS:

Global longitudinal strain

LGE:

Late gadolinium enhancement

PPV:

Pars plana vitrectomy

PYP:

Pyrophosphate

TTE:

Transthoracic echocardiogram

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Authors and Affiliations

  1. Division of Cardiology, Truman Medical Center, University of Missouri, Kansas City, USA

    Talal Asif MD

  2. Division of Cardiology, Cook County Health, Chicago, USA

    Talal Asif MD, Aviral Vij MD, FACC & Saurabh Malhotra MD, MPH, FACC

  3. Division of Cardiology, Rush Medical College, Chicago, USA

    Aviral Vij MD, FACC & Saurabh Malhotra MD, MPH, FACC

  4. Division of Pathology, Cook County Health, 1901 W. Harrison Street, Suite 3620, Chicago, 60612, USA

    Bartlomiej Radzik MD & Patricia Simples MD

  5. Division of Ophthalmology, Cook County Health, Chicago, USA

    Hudson Stern MD & Quraish Ghadiali MD

Authors
  1. Talal Asif MD
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  2. Aviral Vij MD, FACC
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  3. Bartlomiej Radzik MD
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  4. Hudson Stern MD
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  5. Patricia Simples MD
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  6. Quraish Ghadiali MD
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  7. Saurabh Malhotra MD, MPH, FACC
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Corresponding author

Correspondence to Saurabh Malhotra MD, MPH, FACC.

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Asif, T., Vij, A., Radzik, B. et al. Multimodality imaging for diagnosis of subclinical hereditary transthyretin cardiac amyloidosis. J. Nucl. Cardiol. 30, 792–799 (2023). https://doi.org/10.1007/s12350-021-02865-7

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  • DOI: https://doi.org/10.1007/s12350-021-02865-7

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