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

Mengyao YuAndrew R HarperMatthew AguirreMaureen PittmanCatherine TcheandjieuDulguun AmgalanChristopher GraceAnuj GoelMartin FarrallKe XiaoJesse EngreitzKatherine S PollardHugh C WatkinsJames R Priest
Published in: Circulation. Genomic and precision medicine (2023)
Automated estimates of cross-sectional area of the IVS supports discovery of novel loci related to cardiac development and Mendelian disease. Inheritance of genetic liability for either small or large IVS, appears to confer risk for ventricular septal defect or hypertrophic cardiomyopathy, respectively. These data suggest that a proportion of risk for structural and congenital heart disease can be localized to the common genetic determinants of size and shape of cardiovascular anatomy.
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