Genetic polymorphisms that predict outcome and need for treatment in cardiovascular disease

PURPOSE OF REVIEW: Interest in the genetic determinants of complications of cardiovascular disease, and the resultant influence on management, has increased. We have therefore reviewed the literature in the last 12-16 months for studies documenting genetic risk of complications. The focus is on risk of complications or differences in management, rather than only susceptibility to cardiovascular disease itself. RECENT FINDINGS: Polymorphisms in myocyte enhancer factor 2A, a transcription factor, tumor necrosis factor (ligand) superfamily, member 4, the OX40 ligand, and proprotein convertase subtilisin/kexin type 9, which affect low-density lipoprotein levels, have all been associated with an altered risk of coronary artery disease and myocardial infarction. A preliminary study of genotype-specific therapy of the 5-lipoxygenase pathway has shown benefit in the intermediate endpoint of reduction in inflammatory markers in patients at risk of myocardial infarction and stroke. Bleeding and renal complications after coronary artery bypass surgery have also been associated with genetic polymorphisms. A familial study confirms a genetic association with thoracic aortic aneurysms. SUMMARY: A familial risk of cardiovascular disease is well known. The specific genotypes at risk are increasingly being discovered. The science has progressed to the point that genotype-specific interventions are increasingly feasible.