Reposted by Gurleen Kaur
🚨 New @CircAHA #ESC2025 SimPub alert!
🚨 HCM isn’t just driven by rare Mendelian mutations. This study highlights the role of intermediate-effect variants (IEVs)—variants with moderate effect & low penetrance—in shaping disease expression. #HCM #SoMeEditor
tinyurl.com/HCM-IEVs
tinyurl.com
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate Effect Variants | Circulation
Background: Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous disorder
primarily linked to rare variants in sarcomere genes, though recently certain non-sarcomeric
genes have emerged as...
