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Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records (JACC: CardioOncology October 2021-2)
Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records
New treatments for transthyretin amyloidosis improve survival, but diagnosis remains challenging. Pathogenic or likely pathogenic (P/LP) variants in the transthyretin (TTR) gene are one cause of transthyretin amyloidosis, and genomic screening has been proposed to identify at-risk individuals. However, data on disease features and penetrance are lacking to inform the utility of such population-based genomic screening for TTR. This study characterized the prevalence of P/LP variants in TTR identified through exome sequencing and the burden of associated disease from electronic health records for individuals with these variants from a large (N = 134,753), primarily European-ancestry cohort. 

JACC CardioOncology Editor-in-Chief and CME Editor
Bonnie Ky, MD, MSCE, FACC

Author
Brendan J. Carry, MD

Important Dates

Date of Release: October 19, 2021    
Term of Approval/Date of CME/MOC/ECME Expiration: October 18, 2022 

Summary
Availability: On-Demand
Expires on Oct 18, 2022
Cost: FREE
Credit Offered:
1 CME Credit
1 ABIM-MOC Point
1 ECME Credit
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