Cardiovascular and Metabolic Genetic Markers

Cardiovascular and metabolic genetic markers can reveal inherited factors that influence heart rhythm, blood vessels, cholesterol, blood clotting, diabetes, obesity, and energy metabolism. This category explains how genetic tests work, who may benefit from testing, and what positive, negative, uncertain, or carrier results may mean for personal care and family members. Explore testing for inherited cardiovascular conditions such as long QT syndrome, short QT syndrome, cardiomyopathies, Loeys–Dietz syndrome, thoracic aortic aneurysm, and vascular Ehlers–Danlos syndrome. Learn how genes including KCNQ1, KCNH2, SCN5A, FBN1, TGFBR1, TGFBR2, COL3A1, and PCSK9 may affect arrhythmia risk, aortic disease, heart muscle function, or cholesterol levels. Coverage also includes Factor V Leiden, prothrombin G20210A, thrombophilia panels, LPA testing, and coronary artery disease polygenic risk scores. Metabolic topics include MODY, neonatal and mitochondrial diabetes, monogenic obesity, type 2 diabetes and obesity polygenic risk scores, MTHFR variants, Wilson disease, and mitochondrial disorders. Each guide focuses on clinical meaning, test limitations, inheritance, follow-up, family testing, and questions to discuss with a genetic counselor or specialist. It also explains why symptoms, medical history, laboratory findings, imaging, and ancestry can change how a result is interpreted. The goal is to help you use genetic information carefully—without confusing inherited risk with a diagnosis or treating a single result in isolation.