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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

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Recent advances in the diagnosis and management of cardiac amyloidosis

Taimur Sher1, Morie A Gertz

  • 1Mayo Clinic, 4500 San Pablo Road South, Jacksonville, FL 32224, USA. sher.taimur@mayo.edu.

Future Cardiology
|December 19, 2013
PubMed

Insights

Cardiac amyloidosis, a heart condition, is often diagnosed late. Early detection and tailored treatments, including chemotherapy and transplantation, improve outcomes for this serious disease.

Area of Science:

  • Cardiology
  • Cardiovascular Diseases
  • Amyloidosis Research

Background:

  • Cardiac amyloidosis significantly contributes to patient morbidity and mortality.
  • Delayed diagnosis is common due to nonspecific symptoms and challenges in early cardiac imaging detection.

Purpose of the Study:

  • To review the diagnosis, treatment, and prognosis of cardiac amyloidosis.
  • To highlight the impact of amyloid protein type on patient outcomes.

Main Methods:

  • Review of current diagnostic approaches, including cardiac imaging.
  • Summary of established and emerging therapeutic strategies based on amyloid type.
  • Discussion of prognostic factors and supportive care.

Main Results:

  • Treatment strategies vary significantly depending on the specific amyloid protein involved.
  • Immunoglobulin light-chain amyloidosis is associated with poorer prognoses compared to other types.
  • Ongoing clinical trials are exploring novel treatments like siRNA and protein stabilizers.

Conclusions:

  • Cardiac amyloidosis requires timely diagnosis and individualized treatment plans.
  • Advancements in cardiac imaging and proteomics are crucial for improving patient care.
  • Supportive care remains fundamental in managing cardiac amyloidosis.

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