Sonu Abraham (@sonuabrahammd.bsky.social)

🚨 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

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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... https://tinyurl.com/HCM-IEVs