Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.

doi:10.1161/CIRCULATIONAHA.124.069398

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Article

Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.

Circulation - 18 Mar 2025

Meisner Joshua K, Renberg Aaron, Smith Eric D, Tsan Yao-Chang, Elder Brynn, Bullard Abbey, Merritt Owen L, Zheng Sean L, Lakdawala Neal K, Owens Anjali T, Ryan Thomas D, Miller Erin M, Rossano Joseph W, Lin Kimberly Y, Claggett Brian L, Ashley Euan A, Michels Michelle, Lampert Rachel, Stendahl John C, Abrams Dominic, Semsarian Christopher, Parikh Victoria N, Wheeler Matthew T, Ingles Jodie, Olivotto Iacopo, Day Sharlene M, Saberi Sara, Russell Mark W, Previs Michael, Ho Carolyn Y, Ware James S, Helms Adam S

Abstract excerpt

BACKGROUND: Classically, hypertrophic cardiomyopathy (HCM) has been viewed as a single-gene (monogenic) disease caused by pathogenic variants in sarcomere genes. Pathogenic sarcomere variants are individually rare and convey high risk for developing HCM (highly penetrant). Recently, important polygenic contributions have also been characterized. Low penetrance sarcomere variants (LowSVs) at intermediate...

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Identifiers

PMID: 39633578
DOI: 10.1161/CIRCULATIONAHA.124.069398
PMCID: PMC11913586

Genes

MYBPC3
TNNT2

Variants

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