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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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[An atypical case of cardiac amyloidosis]

Alberto Giannoni1, Donato Giovanni Aquaro, Lorenzo Masi

  • 1UOC Medicina Cardiovascolare e RM Lab, Fondazione G. Monasterio CNR-Regione Toscana, Pisa. agiannon@ifc.cnr.it

Recenti Progressi in Medicina
|September 24, 2009
PubMed

Insights

This case report highlights a patient initially diagnosed with ischemic-hypertensive cardiomyopathy who was later found to have multiple myeloma. Cardiac magnetic resonance imaging revealed an amyloidosis pattern, leading to the final diagnosis.

Area of Science:

  • Cardiology
  • Oncology
  • Medical Imaging

Background:

  • A patient presented with symptoms suggestive of ischemic-hypertensive cardiomyopathy, including angina and inducible myocardial ischemia.
  • Coronary angiography revealed normal coronary arteries, posing a diagnostic challenge.

Observation:

  • Cardiac magnetic resonance (CMR) imaging demonstrated a pattern consistent with cardiac amyloidosis.
  • The findings on CMR prompted further investigation.

Findings:

  • An osteomedullary biopsy confirmed the presence of multiple myeloma.
  • This revealed that the cardiac findings were due to amyloid deposition secondary to multiple myeloma.

Implications:

  • This case underscores the importance of considering systemic diseases like multiple myeloma in the differential diagnosis of cardiomyopathy, even with normal coronary arteries.
  • Cardiac magnetic resonance is a valuable tool for identifying cardiac amyloidosis.
  • Early diagnosis of multiple myeloma is crucial for timely management and improved patient outcomes.

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