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Diagnosis of cardiac amyloidosis

Answer

The diagnosis of cardiac amyloidosis involves a combination of clinical history, imaging studies, and tissue biopsy.

Clinical history

Imaging studies

Tissue biopsy

  • The ARC 2019 guidelines recommend performing a tissue biopsy from a clinically affected organ, such as an endomyocardial biopsy if the heart is clinically affected, or an abdominal fat or bone marrow biopsy if a monoclonal protein is detected, depending on availability and expertise at the clinic
  • Endomyocardial biopsy is recommended by the CCS/CHFS 2020 guidelines for diagnosis and subtyping with mass spectrometry or immunohistochemistry/immunofluorescence, if available, when the existing diagnostic workup for cardiac amyloidosis is equivocal or discordant with clinical suspicion

Genetic testing

  • The ACC/AHA/HFSA 2022 guidelines recommend obtaining genetic testing with transthyretin gene sequencing to differentiate hereditary variant from wild-type transthyretin cardiac amyloidosis in patients diagnosed with transthyretin cardiac amyloidosis

In summary, the diagnosis of cardiac amyloidosis involves recognizing clinical features that suggest the disease, utilizing imaging studies to identify characteristic cardiac involvement, performing tissue biopsy when necessary to confirm the diagnosis and determine the amyloid type, and conducting genetic testing to distinguish between hereditary and wild-type forms of transthyretin amyloidosis.

References

1

Cardiac amyloidosis

Diagnostic procedures

Guidelines

Endomyocardial biopsy

Pathway
CCS/.../CHFS 2020