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

TL;DR

This case report describes a rare TTR mutation in a Chinese patient with amyloid cardiomyopathy and highlights new diagnostic imaging details.

Contribution

The report introduces detailed cardiac imaging findings for a rare TTR p.D58Y mutation in a Chinese patient.

Findings

The patient had a rare p.D58Y TTR mutation linked to amyloid cardiomyopathy.

Transthoracic echocardiography, cardiac MRI, and SPECT imaging were used to diagnose cardiac amyloidosis.

The case contributes to understanding the genotype-phenotype relationship in ATTR cardiomyopathy.

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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