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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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Pathophysiology and treatment of cardiac amyloidosis

Morie A Gertz1, Angela Dispenzieri2, Taimur Sher3

  • 1Division of Hematology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

Nature Reviews. Cardiology
|October 15, 2014
PubMed

Insights

Amyloid cardiomyopathy, a cause of heart failure with preserved ejection fraction, can be diagnosed using non-invasive methods like fat or bone marrow biopsies. Mass spectrometry classifies the specific type for targeted treatment.

Area of Science:

  • Cardiology
  • Infiltrative Cardiomyopathy
  • Cardiac Amyloidosis

Background:

  • Amyloid cardiomyopathy is a critical consideration in patients presenting with heart failure and preserved ejection fraction.
  • Ventricular thickening on echocardiography, without a history of hypertension, suggests infiltrative cardiomyopathy, potentially amyloidosis.

Purpose of the Study:

  • To review the characteristics of cardiac amyloidosis.
  • To outline a structured approach for patient assessment and treatment, including emerging therapies and transplantation.

Main Methods:

  • Diagnosis is confirmed by biopsy, with subcutaneous fat or bone marrow aspiration often sufficient, avoiding endomyocardial biopsy in most cases.
  • Mass spectrometry is utilized to identify the specific protein subunit, classifying the amyloidosis as light-chain (AL) or transthyretin-related (ATTR) amyloidosis.

Main Results:

  • Non-invasive biopsy methods confirm diagnosis in 40-80% of patients, depending on amyloidosis type.
  • Classification via mass spectrometry distinguishes between immunoglobulin light-chain amyloidosis and transthyretin-related amyloidosis (mutant or wild-type TTR).

Conclusions:

  • Early suspicion and diagnosis of amyloid cardiomyopathy are crucial for patients with heart failure and preserved ejection fraction.
  • A systematic diagnostic and therapeutic strategy, incorporating advanced techniques and considering transplantation, improves patient management.

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