AUTHOR=Lin Jibin , Peng Jiangtong , Lv Bingjie , Cao Zheng , Chen Zhijian 

TITLE=Case Report: A rare transthyretin mutation p.D58Y in a Chinese case of transthyretin amyloid cardiomyopathy

JOURNAL=Frontiers in Cardiovascular Medicine

VOLUME=Volume 11 - 2024

YEAR=2024

URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2024.1374241

DOI=10.3389/fcvm.2024.1374241

ISSN=2297-055X

ABSTRACT=Hereditary transthyretin amyloid (ATTRv) cardiomyopathy (CM) is cause by mutations in the TTR gene.TTR mutations contribute to TTR tetramer destabilization and dissociation, lead to excessive insoluble amyloid fibrils deposition in the myocardium and finally result in cardiac dysfunction. In this article, we report one Chinese transthyretin mutation p.D58Y case and provide detailed cardiac amyloidosis information, including transthoracic echocardiography, cardiac magnetic resonance and SPECT imaging for the first time. Our report here would help better understand ATTR genotypes and phenotypes.