Polygenic Background and Penetrance of Pathogenic Variants in Hypertrophic and Dilated Cardiomyopathies

The findings in this study indicate that HCM and DCM risk were modified by polygenic background, which exists on an overlapping but opposing spectrum. Consideration of polygenic background may offer clinical value through improving understanding and prediction of these inherited cardiomyopathies.

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Publication Details

Journal
JAMA Cardiology
Published
2025-12-23
DOI
https://doi.org/10.1001/jamacardio.2025.4739
Citations
1
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
1.39
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article

Polygenic Background and Penetrance of Pathogenic Variants in Hypertrophic and Dilated Cardiomyopathies

Lily Hoffman‐Andrews, Sydney Linn, Nosheen Reza, Ned Haubein et al.
1 citations
JAMA Cardiology
Cardiomyopathy and Myosin Studies
1.39
article

Polygenic Background and Penetrance of Pathogenic Variants in Hypertrophic and Dilated Cardiomyopathies

Lily Hoffman‐Andrews, Sydney Linn, Nosheen Reza, Ned Haubein, Giorgio Sirugo, Marjorie Risman, Joseph Dunn, ANJALI TIKU OWENS, Teo Tran, Renae Judy, JoEllen Weaver, Aidan Harvey, Colleen Morse Kripke, Scott Dudek, Nawar Naseer, Sarah Abramowitz, Theodore G. Drivas, Stephanie DerOhannessian, Colin Wollack, Michael G. Levin, Afiya Poindexter, Fred Vadivieso, Julia Stephanowski, Salma Santos, S. Day, Yuki Bradford, Meghan Livingstone, Zachary Rodriguez, Marylyn D Ritchie, Shefali S Verma, Anurag Verma, Thomas P. Cappola, Jenna Dever, Daniel J Rader, Naman Srivastava, Scott M. Damrauer, David Y. Zhang
article en
1 citations

Abstract

The findings in this study indicate that HCM and DCM risk were modified by polygenic background, which exists on an overlapping but opposing spectrum. Consideration of polygenic background may offer clinical value through improving understanding and prediction of these inherited cardiomyopathies.

JAMA CardiologyVol. 11(2)
Hospital of the University of Pennsylvania (US), Donald & Barbara Zucker School of Medicine at Hofstra/Northwell (US), Penn Center for AIDS Research (US), Philadelphia VA Medical Center (US), University of Pennsylvania Health System (US), University of Pennsylvania (US)
Openalex Percentile: Top 12%
Cardiomyopathy and Myosin Studies
1.39
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