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Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.

Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.

Authors :
Khurshid, Shaan
Lazarte, Julieta
Pirruccello, James P.
Weng, Lu-Chen
Choi, Seung Hoan
Hall, Amelia W.
Wang, Xin
Friedman, Samuel F.
Nauffal, Victor
Biddinger, Kiran J.
Aragam, Krishna G.
Batra, Puneet
Ho, Jennifer E.
Philippakis, Anthony A.
Ellinor, Patrick T.
Lubitz, Steven A.
Source :
Nature Communications; 3/21/2023, p1-11, 11p
Publication Year :
2023

Abstract

Left ventricular mass is a risk marker for cardiovascular events, and may indicate an underlying cardiomyopathy. Cardiac magnetic resonance is the gold-standard for left ventricular mass estimation, but is challenging to obtain at scale. Here, we use deep learning to enable genome-wide association study of cardiac magnetic resonance-derived left ventricular mass indexed to body surface area within 43,230 UK Biobank participants. We identify 12 genome-wide associations (1 known at TTN and 11 novel for left ventricular mass), implicating genes previously associated with cardiac contractility and cardiomyopathy. Cardiac magnetic resonance-derived indexed left ventricular mass is associated with incident dilated and hypertrophic cardiomyopathies, and implantable cardioverter-defibrillator implant. An indexed left ventricular mass polygenic risk score ≥90<superscript>th</superscript> percentile is also associated with incident implantable cardioverter-defibrillator implant in separate UK Biobank (hazard ratio 1.22, 95% CI 1.05-1.44) and Mass General Brigham (hazard ratio 1.75, 95% CI 1.12-2.74) samples. Here, we perform a genome-wide association study of cardiac magnetic resonance-derived indexed left ventricular mass to identify 11 novel variants and demonstrate that cardiac magnetic resonance-derived and genetically predicted indexed left ventricular mass are associated with incident cardiomyopathy. A genome-wide association study of cardiac magnetic resonance-derived left ventricular mass index including 43,000 UK Biobank participants reveals 12 associations (11 novel), implicating genes involved in cardiac contractility and cardiomyopathy. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20411723
Database :
Complementary Index
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
162586287
Full Text :
https://doi.org/10.1038/s41467-023-37173-w