Case Report: A Rare Transthyretin Mutation P.D58Y in a Chinese Case of Transthyretin Amyloid Cardiomyopathy

Overview

Journal Front Cardiovasc Med

Specialty Cardiology & Vascular Diseases

Date 2024 Jun 6

PMID 38841257

Authors

Jibin Lin

Jiangtong Peng

Bingjie Lv

Zheng Cao

Zhijian Chen

Affiliations

Soon will be listed here.

Abstract

Hereditary transthyretin amyloid (ATTRv) cardiomyopathy (CM) is caused by mutations in the TTR gene. TTR mutations contribute to TTR tetramer destabilization and dissociation, leading to excessive deposition of insoluble amyloid fibrils in the myocardium and finally resulting in cardiac dysfunction. In this article, we report a case of a Chinese patient with transthyretin mutation p.D58Y and provide detailed information on cardiac amyloidosis, including transthoracic echocardiography, cardiac magnetic resonance, and SPECT imaging for the first time. Our report aims to provide a better understanding of ATTR genotypes and phenotypes.

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