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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Amyloid transthyretin cardiac amyloidosis with different manifestations, test findings and types

Jeffery Budweg1, Mohammad Al-Ani2, Yazan Assaf3,4

  • 1Medicine, University of Florida, Gainesville, Florida, USA jeffery.budweg@medicine.ufl.edu.

BMJ Case Reports
|April 20, 2023
PubMed

Insights

Transthyretin amyloidosis often presents as heart failure. Early suspicion through history, physical exam, ECG, and imaging is crucial for diagnosis and evolving treatments.

Area of Science:

  • Cardiology
  • Neurology
  • Genetics

Background:

  • Transthyretin amyloidosis (ATTR amyloidosis) commonly manifests as cardiac amyloidosis, often presenting as heart failure.
  • Clinical presentation can include various cardiac and extracardiac signs.

Keywords:
Cardiovascular systemHeart failure

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