TY - CHAP M1 - Book, Section TI - Genomics And Epigenomics of Heart Diseases A1 - Rhee, June-Wha A1 - Wu, Joseph C. A2 - Fuster, Valentin A2 - Narula, Jagat A2 - Vaishnava, Prashant A2 - Leon, Martin B. A2 - Callans, David J. A2 - Rumsfeld, John S. A2 - Poppas, Athena PY - 2022 T2 - Fuster and Hurst's The Heart, 15e AB - Chapter SummaryThis chapter discusses the genetics and epigenetics of cardiovascular disease (CVD) (see Fuster and Hurst’s Central Illustration). Following the advances in deoxyribonucleic acid (DNA) sequencing technologies, our knowledge of cardiovascular genetics and epigenetics has dramatically increased. While we previously understood the genetics of heart disease mainly in the context of syndromic diseases, caused by chromosomal abnormalities, and Mendelian diseases, caused by single-gene defects, we now appreciate the integral roles of noncoding genes, polygenic mechanisms, and epigenetics in mediating heart disease. Herein, we first review conventional genetic mechanisms of heart disease, including chromosomal anomaly-related congenital heart defects and monogenic diseases such as genetic cardiomyopathy, inherited cardiac arrhythmia, and familial hypercholesterolemia. We then discuss the evolving evidence of polygenic mechanisms in heart disease, presenting an example of coronary artery disease and how polygenic risk score is used in its risk stratification. Next, we review epigenetic regulation of gene expression and discuss its role in CVD pathogenesis. Finally, we conclude by discussing a number of emerging technologies, including genome editing technologies, human-induced pluripotent stem cells, and advanced sequencing and bioinformatics technologies, which can further advance our knowledge of genetics and epigenetics of heart disease. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/12 UR - accesscardiology.mhmedical.com/content.aspx?aid=1202441437 ER -