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Article

Cardiac Amyloidosis Phenotype Associated With a Glu89Lys Transthyretin Mutation.

The Canadian journal of cardiology - 1 Jun 2017

Bourque Pierre R, McCurdy Arleigh R, Mielniczuk Lisa M, Dennie Carole, Veinot John P, Warman Chardon Jodi

Abstract excerpt

We report a 45-year-old man with rapidly progressive cardiac amyloidosis, who required heart transplantation within 2 years of symptomatic onset. Hematologic testing and initial tissue biopsy results confirmed amyloid infiltration but were inconclusive for the amyloidogenic protein source. Mass spectroscopy and transthyretin (TTR) sequencing were required to reach a diagnosis of TTR amyloidosis resulting from a...

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Source

Identifiers

PMID: 28395866
DOI: 10.1016/j.cjca.2017.01.023

Genes

TTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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