Cardiovascular genetics and genomics explore the role of genetic factors in the development, progression, and variability of heart and vascular diseases. Inherited mutations, polymorphisms, and epigenetic modifications can influence susceptibility to conditions such as hypertrophic cardiomyopathy, arrhythmias, congenital heart defects, and familial hypercholesterolemia. Advances in high-throughput genomic technologies, including whole-genome sequencing, exome analysis, and genome-wide association studies (GWAS), have allowed researchers to identify genetic variants associated with both rare and common cardiovascular disorders. This knowledge enhances risk prediction, early diagnosis, and the development of targeted therapies.
Integration of genomics into clinical cardiology has paved the way for precision medicine, where treatment and prevention strategies are tailored to an individual’s genetic profile. Genetic counseling and testing enable early identification of at-risk family members, guiding monitoring and lifestyle interventions. Furthermore, pharmacogenomics informs drug selection and dosing, reducing adverse effects and improving efficacy, particularly in anticoagulation, lipid-lowering, and antiarrhythmic therapies. Emerging research in gene editing, RNA-based therapeutics, and regenerative medicine holds promise for correcting genetic defects and repairing damaged myocardium. By bridging molecular biology with clinical care, cardiovascular genetics and genomics are transforming the understanding, prevention, and management of heart disease, offering personalized solutions for improved patient outcomes.