Biochemical and biophysical properties of a rare TTRA81V mutation causing mild transthyretin amyloid cardiomyopathy

ConclusionsWe identified a patient with hATTR-CM who possesses a rare TTRA81V mutation solely associated with cardiac complications. The slightly reduced kinetic stability of this mutation indicates its late-onset nature and contributes to the gradual progression of the disease.

Source: ESC Heart Failure - October 13, 2023 Category: Cardiology Authors: Qiuyan Sha, Yanli Zhang, Mengdie Wang, Jialu Sun, Yunlong Zhang, Xinxin Zhang, Ning Wang, Yu Liu, Ying Liu Tags: Original Article Source Type: research