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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

[Cardiac amyloidosis. A case report]

Doina Butcovan1, Cătălina Arsenescu, Dana Pintilie

  • 1Universitatea de Medicină şi Farmacie Gr T Popa Iaşi, Facultatea de Medicină, Disciplina de Morfopatologie.

Revista Medico-Chirurgicala a Societatii De Medici Si Naturalisti Din Iasi
|April 13, 2006
PubMed

Insights

This study highlights cardiac amyloidosis in a 50-year-old man with heart failure. Morphological examination of endomyocardial biopsy confirmed amyloid deposits, crucial for diagnosis.

Area of Science:

  • Cardiology
  • Pathology
  • Medical Diagnostics

Background:

  • Cardiac amyloidosis is a progressive condition often presenting as restrictive cardiomyopathy and chronic heart failure.
  • Accurate diagnosis is essential for appropriate patient management and treatment strategies.

Observation:

  • A 50-year-old male patient presented with progressive chronic cardiac failure and a history of restrictive cardiomyopathy.
  • A comprehensive cardiovascular evaluation, including right cardiac catheterization and endomyocardial biopsy, was performed.
  • Biopsy specimens were processed using standard histological techniques and stained for amyloid detection.

Findings:

  • Morphological examination revealed amyloid deposits within the interstitium and vascular walls of the endomyocardial biopsy.
  • Specific staining methods, including sulphated blue Alcian, effectively highlighted the presence of amyloid.

Implications:

  • Morphological examination of endomyocardial biopsy is a critical diagnostic tool for cardiac amyloidosis.
  • Early and accurate diagnosis through histological analysis can guide therapeutic interventions.
  • This case underscores the importance of integrating clinical presentation with detailed pathological findings.

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