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Article

Low Prevalence of Clinically Apparent Cardiac Amyloidosis Among Carriers of Transthyretin V122I Variant in a Large Electronic Medical Record.

The American journal of medicine - 1 Feb 2021

Agbor-Etang Brian B, Okafor Henry E, Farber-Eger Eric H, Wells Quinn S

Abstract excerpt

BACKGROUND: Transthyretin (TTR) gene mutations are the most common cause of hereditary amyloidosis. Valine replaced by isoleucine in position 122 (V122I) variant is common, particularly in the black population. Carriers of V122I have increased risk for developing cardiac amyloidosis. Despite a relatively high prevalence, the penetrance of V122I is not firmly established. This study sought to determine the...

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Identifiers

PMID: 32866461
DOI: 10.1016/j.amjmed.2020.06.031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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