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Expert Analysis and Opinion—Understanding Cardiac Amyloidosis

key information

source: American College of Cardiology Foundation

year: 2021

authors: Frederick L. Ruberg, Mathew S. Maurer

summary/abstract:

Cardiac amyloidosis (CA) is a protein-folding disorder nearly exclusively caused by misfolded amyloid transthyretin (ATTR) and amyloid light chain (AL) proteins.

• Name derives from Latin “amylum” (starch like).
• Nomenclature: “A” for amyloid, followed by precursor protein abbreviation (e.g., AL = amyloid light chain amyloidosis).
• Histologic diagnosis: Aggregates of beta-sheets that stain with Congo red (green birefringence under polarized light). Congo red staining does not identify the type of amyloidosis.
• Systemic amyloidoses classified by precursor protein:
– Light chain and transthyretin (TTR) are the most common types.
– Immunoglobulin light chains are produced by the bone marrow plasma cell; circulating TTR (formerly known as “prealbumin”) is produced by the liver.
– TTR can be genetically normal (transthyretin amyloidosis wild-type [ATTRwt]) or variant (transthyretin amyloidosis variant [ATTRv] or hereditary transthyretin amyloidosis [hATTR]).
– Single-nucleotide polymorphisms in the transthyretin (TTR) gene induce TTR instability and misfolding.
 
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