Related Experiment Video
Updated: Nov 17, 2025

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Hereditary Transthyretin Cardiac Amyloidosis in Refractory Spinal Canal Stenosis: Genetic and Pathologic Analysis
Haruhiko Higashi1, Katsuji Inoue1, Hatsue Ishibashi-Ueda2
1Department of Cardiology, Pulmonology, Hypertension and Nephrology, Ehime University Graduate School of Medicine, Toon, Japan.
Abstract:
Transthyretin (TTR) cardiac amyloidosis is a systemic disease caused by amyloid deposits in several systemic organs. The thickening of the yellow ligament because of amyloid deposits results in spinal canal stenosis. This study reports a case of mutant-type TTR cardiac amyloidosis in a patient with recurrent spinal canal stenosis. To our knowledge, this is the first study to report pathologic amyloid involvement in both spinal and cardiac tissues of a patient with hereditary TTR amyloidosis. It is important to be aware of underlying amyloidosis as a cause of spinal canal stenosis, especially regarding refractory diseases in older adults.

