Peer-Reviewed Publication
Nat Cardiovasc Res2026September 1, 2026Journal Article
A multiancestry polygenic risk score improves stratification in patients with hypertrophic cardiomyopathy.
Harshvir S Bal1, Akhil Pampana1, Amrita Nayak1, Mokshad Gaonkar1, Sahaj Patel1, Krishin Yerabolu1, Nehal Vekariya1, Nirav Patel2, Rajat Kalra3,4, Peng Li5, Garima Arora1, Pankaj Arora6,7
1Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, AL, USA.
2Northside Hospital, Mount Olive, AL, USA.
3Center For Resuscitation Medicine and Minnesota Mobile Resuscitation Consortium at the University of Minnesota Medical School, Minneapolis, MN, USA.
4Division of Cardiology, Department of Medicine, University of Minnesota Medical School, Minneapolis, MN, USA.
5School of Nursing, University of Alabama at Birmingham, Birmingham, AL, USA.
6Division of Cardiovascular Disease, University of Alabama at Birmingham, Birmingham, AL, USA. parora@uabmc.edu.
7Section of Cardiology, Birmingham Veterans Affairs Medical Center, Birmingham, AL, USA. parora@uabmc.edu.
Abstract
Hypertrophic cardiomyopathy (HCM) has traditionally been considered a Mendelian disease driven by pathogenic or likely pathogenic variants in sarcomere-encoding genes (SARC-HCM-P/LP). However, these variants explain only one-third of cases, and variable penetrance suggests additional polygenic contributions. Existing HCM polygenic risk scores (PRSs), largely derived from European-ancestry cohorts,…
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