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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Cardiac amyloidosis: pathology, nomenclature, and typing

Joseph J Maleszewski1

  • 1Department of Laboratory Medicine & Pathology, Mayo Clinic, Rochester, MN, USA; Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|September 12, 2015
PubMed

Insights

Cardiac amyloidosis, a heart disease from misfolded protein deposits, requires precise typing beyond visual diagnosis. Accurate protein identification is crucial for targeted therapies and effective patient management.

Area of Science:

  • Cardiology
  • Pathology
  • Biochemistry

Background:

  • Amyloidosis is an emerging cause of heart disease due to misfolded protein deposition.
  • Cardiac symptoms can be the primary presentation, even with systemic or localized deposition.
  • Traditional diagnosis relies on pathologist identification of amyloid in tissue samples.

Purpose of the Study:

  • To review gross and histopathologic features of cardiac amyloidosis.
  • To discuss amyloid typing strategies for accurate protein identification.
  • To highlight the importance of reporting nomenclature for clinical management.

Main Methods:

  • Review of gross and histopathologic findings in cardiac amyloidosis.
  • Analysis of direct and indirect amyloid typing techniques.
  • Examination of current nomenclature standards for reporting.

Main Results:

  • Cardiac amyloidosis diagnosis requires more than visual identification of amyloid.
  • Accurate typing of deposited proteins is essential for modern pharmacotherapies.
  • Standardized reporting improves communication between pathologists and clinicians.

Conclusions:

  • Precise amyloid typing is critical for effective treatment of cardiac amyloidosis.
  • Advanced diagnostic workup is necessary to guide protein-specific therapies.
  • Clear nomenclature ensures accurate diagnosis and patient management.

Keywords:
Infiltrative cardiomyopathyProteomicsRestrictive cardiomyopathy

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