Genetics of coagulation: what the cardiologist needs to know

Hemostasis maintains the blood in a fluid state under physiological conditions, yet enables rapid clot formation at sites of vascular injury to prevent excessive bleeding. Disruption of hemostasis can lead to thrombosis, which can occur in arteries, veins, or in the chambers of the heart. Factors contributing to thrombosis in these sites include endothelial injury, reduced blood flow, and hypercoagulability of the blood. Vessel wall injury and stasis are particularly important in the pathogenesis of arterial thrombosis, whereas hypercoagulability and stasis are the key contributors to venous thrombosis. Hereditary and acquired risk factors combine to establish the intrinsic risk for thrombosis in each individual and superimposed environmental factors can add to this risk. Although hereditable risk factors for venous thrombosis are well defined, much less is known about the genetic risk factors for arterial thrombosis. This article reviews our current knowledge of hereditable risk factors for arterial and venous thrombosis from the cardiology perspective.