Article

Enrichment for Cases of African-American Patients with Pathogenic <i>TTR</i> V142I Variant in the TOPCAT Trial

2020-10-16

Abstract excerpt

Transthyretin cardiac amyloidosis (ATTR-CA) is a treatable cause of heart failure with a hereditary form that disproportionally affects patients of West African ancestry. The clinical management of ATTR-CA has dramatically changed in the past five years, with rapidly evolving diagnostic approaches and life-prolonging therapies. The TTR variant c.424G>A, p.V142I (aka V122I) is pathogenic and occurs in 3-4% of indiv...

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Literature Corpus work: 4104c60c-b114-55d2-bf4c-8f28f674353b
DOI: 10.1101/2020.10.14.20201046

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