07Apr 2023
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy

Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy

Researchers developed a reproducible proxy for interventricular septum (IVS) structure using cardiac magnetic resonance imaging in a large cohort from the UK Biobank. They identified seven novel genetic loci associated with IVS structure, including a single nucleotide polymorphism in CDKN1A and a common inversion involving KANSL1. Mendelian randomization analysis revealed that a larger IVS size was associated with an increased risk of hypertrophic cardiomyopathy, while a smaller IVS size was associated with an increased risk of ventricular septal defect. These findings suggest that genetic determinants of IVS size and shape contribute to the risk of structural and congenital heart diseases involving the IVS.

  • #cardiology

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