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Case Report and Literature Review of Cardiac Amyloidosis: A Not-So-Rare Cause of Heart Failure

Patrícia Baptista1, Sofia Moura de Azevedo1, André Alexandre2

  • 1Internal Medicine, Centro Hospitalar Universitário do Porto, Porto, PRT.

Cureus
|February 8, 2023
PubMed

Insights

Cardiac amyloidosis, a common cause of heart failure, is often underdiagnosed. This case highlights wild-type transthyretin amyloidosis diagnosis using multimodality imaging and biomarkers.

Area of Science:

  • Cardiology
  • Cardiovascular Imaging
  • Medical Diagnostics

Background:

  • Restrictive cardiomyopathy due to cardiac amyloidosis is a significant, often underdiagnosed, cause of heart failure.
  • Common types include light chain, transthyretin, and secondary amyloidosis, each with distinct diagnostic pathways.
  • Early recognition and treatment are crucial for managing associated morbidity and mortality.

Observation:

  • An 84-year-old male presented with new-onset heart failure symptoms.
  • Multimodality imaging, including echocardiography and bone scintigraphy, was employed for diagnosis.
  • Biomarkers, monoclonal protein analysis, and genetic testing were integral to the diagnostic workup.

Findings:

  • The patient was diagnosed with wild-type transthyretin amyloidosis.
  • This diagnosis was confirmed through a combination of advanced imaging and laboratory tests.
  • The case underscores the utility of a comprehensive diagnostic approach.

Implications:

  • Increased clinical awareness of cardiac amyloidosis is needed for prompt diagnosis and management.
  • This case contributes to the literature on wild-type transthyretin amyloidosis and its presentation.
  • Effective diagnostic strategies can improve patient outcomes for this challenging condition.

Keywords:
al amyloidosiscardiac amyloidosisnon-invasive multimodality diagnosisrestrictive cardiomyopathytransthyretin amyloidosis

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