Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry.

doi:10.1001/jama.2019.17935

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Article

Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry.

JAMA - 10 Dec 2019

Damrauer Scott M, Chaudhary Kumardeep, Cho Judy H, Liang Lusha W, Argulian Edgar, Chan Lili, Dobbyn Amanda, Guerraty Marie A, Judy Renae, Kay Jenna, Kember Rachel L, Levin Michael G, Saha Aparna, Van Vleck Tielman, Verma Shefali S, Weaver JoEllen, Abul-Husn Noura S, Baras Aris, Chirinos Julio A, Drachman Brian, Kenny Eimear E, Loos Ruth J F, Narula Jagat, Overton John, Reid Jeffrey, Ritchie Marylyn, Sirugo Giorgio, Nadkarni Girish, Rader Daniel J, Do Ron

Abstract excerpt

Importance: Hereditary transthyretin (TTR) amyloid cardiomyopathy (hATTR-CM) due to the TTR V122I variant is an autosomal-dominant disorder that causes heart failure in elderly individuals of African ancestry. The clinical associations of carrying the variant, its effect in other African ancestry populations including Hispanic/Latino individuals, and the rates of achieving a clinical diagnosis in carriers are...

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PMID: 31821430
DOI: 10.1001/jama.2019.17935
PMCID: PMC7081752

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