Cardiac amyloidosis with gastrointestinal involvement: a case report

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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

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Alina Tantau1, Ioan Avram2, Angela Cozma1

  • 14th Medical Department, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca, Romania.

Medical Ultrasonography
|March 7, 2015
PubMed

Insights

Transthyretin familial amyloidosis, a rare heart condition, is challenging to diagnose. This case highlights a diagnostic algorithm combining clinical, imaging, and genetic tests for accurate identification.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Diagnostics

Background:

  • Familial amyloidosis is a rare, often undiagnosed condition.
  • Transthyretin amyloidosis can lead to chronic heart failure.
  • Early diagnosis is crucial for effective management.

Observation:

  • A patient presented with chronic heart failure, low ejection fraction, and left ventricle hypertrophy.
  • Echocardiography and cardiac MRI revealed characteristic granular sparkling.
  • Myocardial biopsy and genetic testing were performed.

Findings:

  • The patient was diagnosed with transthyretin familial amyloidosis.
  • A specific Glu54Gln gene mutation was identified as the cause.
  • A comprehensive diagnostic algorithm was employed.

Implications:

  • This case underscores the importance of a multi-modal diagnostic approach.
  • Accurate diagnosis of familial amyloidosis enables timely intervention.
  • Understanding genetic mutations aids in familial amyloidosis diagnosis and counseling.

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