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Updated: Nov 9, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Patisiran for advanced heart failure with hereditary transthyretin cardiac amyloidosis
Makiko Nakamura1, Teruhiko Imamura1, Koichiro Kinugawa1
1The Second Department of Internal Medicine, University of Toyama, 2630 Sugitani, Toyama, Toyama 930-0194, Japan.
Abstract:
We experienced a 78-year-old woman who was diagnosed with hereditary transthyretin cardiac amyloidosis and administered patisiran for advanced heart failure refractory to tafamidis. The levels of N-terminal pro B-type natriuretic peptide and left ventricular mass index decreased following the six-month patisiran treatment without any complications. Patisiran might be a promising disease-modifying drug for hereditary transthyretin cardiac amyloidosis even in its advanced stage, although further evaluation in a large cohort is warranted.
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