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Updated: Jun 26, 2025

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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Cardiac amyloidosis at a glance

Sara Tavares1, Andreas Dirksen2

  • 1Heart Failure Specialist Nurse, Ealing Community Cardiology. Imperial College NHS Trust, London.

British Journal of Nursing (Mark Allen Publishing)
|May 9, 2024
PubMed

Insights

Cardiac amyloidosis, a serious heart condition caused by amyloid fibril buildup, may be more common than previously thought. Early recognition of red flags by nurses is crucial for timely intervention and improved patient outcomes.

Area of Science:

  • Cardiology
  • Oncology
  • Pathology

Background:

  • Amyloidosis involves amyloid fibril deposition in organs.
  • Cardiac amyloidosis is a progressive, life-threatening condition affecting the heart.
  • Historically underestimated, its prevalence is increasing due to advanced diagnostics.

Purpose of the Study:

  • To provide an overview of cardiac amyloidosis pathophysiology.
  • To outline key signs and symptoms for clinical recognition.
  • To guide nurses in identifying critical red flags for early referral.

Main Methods:

  • Literature review on amyloidosis and cardiac involvement.
  • Analysis of diagnostic advancements and awareness in cardiology.
  • Clinical practice guidelines for nursing assessment.

Main Results:

  • Cardiac amyloidosis presents with significant symptomatic burden.
  • Hereditary and age-related forms exist, both impacting cardiac function.
  • Early detection through nursing vigilance is vital.

Conclusions:

  • Increased awareness and improved imaging suggest higher cardiac amyloidosis frequency.
  • Nurses play a key role in identifying early warning signs.
  • Prompt specialist referral significantly impacts disease management and quality of life.

Keywords:
CardiologyHeart failureHereditary conditionsOlder adultsRare diseases

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