Genetics and Clinical Cardiologist

pp. 329-335

Abstract

Cardiovascular genetics has modified the traditional interpretation of numerous cardiovascular diseases. The relationship between genotype and phenotype depends on phenomena such as incomplete penetrance, variable expressivity, and the action of genetic and epigenetic modifiers, contributing to the heterogeneity of clinical manifestations observed among individuals.

While high-impact variants typically drive monogenic diseases, many common cardiovascular diseases have a polygenic architecture, in which multiple common variants with small effect sizes contribute cumulatively to individual risk.

Polygenic risk scores are designed to quantify this cumulative genetic susceptibility.

Integrating genetic information, phenotypic data, and traditional clinical variables is currently a major challenge in clinical cardiology and contemporary models of personalized medicine.