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Updated: Aug 5, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Amyloidosis of the Heart: A Comprehensive Review
1Neurosurgery, Royal Preston Hospital, Preston, GBR.
Abstract:
Cardiac amyloidosis is a progressive, infiltrative cardiomyopathy, whose types are based on various infiltrating amyloids, namely, light chains in primary amyloidosis, mutated transthyretin proteins in hereditary amyloidosis, and wild-type transthyretin proteins in senile amyloidosis. While cardiac amyloidosis has a non-specific presentation, the type-specific presentations may provide some clues to the diagnosis. While tissue biopsy remains the gold standard, other newer non-invasive methods can aid in the diagnostic approach for suspected cardiac amyloidosis. Various medications used to treat heart failure may lead to adverse outcomes in patients with cardiac amyloidosis. More research is needed to understand the adequate management and treatment of cardiac amyloidosis.
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