作者
Scott M Damrauer, Kumardeep Chaudhary, Judy H Cho, Lusha W Liang, Edgar Argulian, Lili Chan, Amanda Dobbyn, Marie A Guerraty, Renae Judy, Jenna Kay, Rachel L Kember, Michael G Levin, Aparna Saha, Tielman Van Vleck, Shefali S Verma, JoEllen Weaver, Noura S Abul-Husn, Aris Baras, Julio A Chirinos, Brian Drachman, Eimear E Kenny, Ruth JF Loos, Jagat Narula, John Overton, Jeffrey Reid, Marylyn Ritchie, Giorgio Sirugo, Girish Nadkarni, Daniel J Rader, Ron Do
发表日期
2019/12/10
期刊
Jama
卷号
322
期号
22
页码范围
2191-2202
出版商
American Medical Association
简介
Importance
Hereditary transthyretin (TTR) amyloid cardiomyopathy (hATTR-CM) due to theTTRV122I 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 unknown.
Objective
To assess the association between theTTRV122I variant and heart failure and identify rates of hATTR-CM diagnosis among carriers with heart failure.
Design, Setting, and Participants
Cross-sectional analysis of carriers and noncarriers ofTTRV122I of African ancestry aged 50 years or older enrolled in the Penn Medicine Biobank between 2008 and 2017 using electronic health record data from 1996 to 2017. Case-control study in participants of African and Hispanic/Latino ancestry with and without …
学术搜索中的文章
SM Damrauer, K Chaudhary, JH Cho, LW Liang… - Jama, 2019