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Sonu Abraham

@sonuabrahammd.bsky.social
33 followers 52 following 5 posts

HF Cardiologist @GillKentucky via @NMCardioVasc, @LaheyHospital, @svhmedres @CalicutCollege | @Circulation #SoMeEditor | #InfiltrativeCMs | #HCM | #CardiogenicShock

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Sonu Abraham @sonuabrahammd.bsky.social · 29/08/2025
@ahajournals.bsky.social
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Sonu Abraham @sonuabrahammd.bsky.social · 29/08/2025
💥 The coexistence of IEVs with monogenic variants leads to a more aggressive HCM phenotype: earlier onset, greater hypertrophy, and reduced survival (MACE-free: 69% vs 93% at 70 yrs). 💥 Clinical takeaway: IEV assessment could be considered as part of HCM genetic testing.
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Sonu Abraham @sonuabrahammd.bsky.social · 29/08/2025
⚡ Clinically, IEV carriers had: 👉 Earlier diagnosis (59 vs 61 yrs) 👉 Thicker LV walls 👉 Higher risk of adverse events ➡️ IEVs aren’t “benign” passengers—they modulate disease severity. #SoMeEditor
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Sonu Abraham @sonuabrahammd.bsky.social · 29/08/2025
🧬 In >10k HCM cases vs >590k controls, 14 IEVs were identified across 8 genes. 🧬 Strikingly, 65% were in non-sarcomeric genes. 🧬 Contribution to HCM burden? 4.9%. #Genetics #HCM #SoMeEditor
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Sonu Abraham @sonuabrahammd.bsky.social · 29/08/2025
🚨 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...
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