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Updated: May 21, 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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Amyloidosis of the heart: pathophysiology, diagnosis, and treatment

Andy Wang1, Uzair Mahmood2, Jared Feldman3

  • 1Department of Cardiology, Deborah Heart and Lung Center, Browns Mills, NJ, USA.

Expert Opinion on Pharmacotherapy
|March 20, 2025
PubMed

Insights

Cardiac amyloidosis involves protein buildup in the heart, causing damage. Early diagnosis and new therapies are crucial for improving survival in this serious condition.

Area of Science:

  • Cardiology
  • Nephrology
  • Hematology

Background:

  • Cardiac amyloidosis results from misfolded protein deposition in the heart.
  • This condition leads to significant cardiac damage and dysfunction.
  • Untreated cardiac amyloidosis is associated with a poor prognosis.

Purpose of the Study:

  • To provide a comprehensive overview of cardiac amyloidosis.
  • To discuss current diagnostic approaches for cardiac amyloidosis.
  • To review emerging therapies for cardiac amyloidosis.

Main Methods:

  • Literature review of diagnostic modalities.
  • Analysis of recent therapeutic advancements.
  • Synthesis of expert opinion on disease management.

Main Results:

  • Technological progress has yielded reliable diagnostic tools.
  • Novel disease-modifying therapies show improved patient outcomes.
  • Early detection and intervention enhance survival rates.

Conclusions:

  • Accurate diagnosis of cardiac amyloidosis is now more feasible.
  • New treatments offer improved management and prognosis.
  • Timely intervention is key for patients with cardiac amyloidosis.
Abstract

Keywords:
Cardiac amyloidosisamyloid cardiomyopathyamyloid fibrilshereditary TTR amyloidosis (ATTRv)transthyretin (TTR)

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