There are several vascular disorders related to genetic causes compatible with Mendelian inheritance and multifactorial inheritance. Atherosclerosis, aortic aneurysms and hyperlipidemias are among these entities.

Genetic epidemiological studies of atherosclerosis have identified a surprisingly long list of genetic and non-genetic risk factors for coronary artery disease. However, such studies indicate that family history is the most significant independent risk factor; The majority of cases of myocardial infarction (MI) and stroke result from the interactions of multiple genetic and environmental factors3. Defining the genetic causes of vascular diseases, such as atherosclerosis, and their role in the risk stratification of coronary disease is the most reliable and quick way to ensure a correct diagnosis, with direct implications for prevention and family screening.

Aortic aneurysms, dissections and rupture have been classified as high as the fifteenth cause of death in the United States, and represent almost 15,000 deaths per year4. Thoracic aortic aneurysms (TAA) tend to be asymptomatic and may not be diagnosed until catastrophic acute aortic dissection occurs. It is known that seven genes and two loci are associated with TAAD; The detection of first-order relatives of probands with TAA is essential5.

One of the most common types of hyperlipidemias occurs due to mutations in the LDL receptor gene (low density lipoprotein), familial hypercholesterolemia (FH). This autosomal dominant disorder affects approximately 1 in 500 individuals6. The receptor defect alters the catabolism of LDL, and the resulting elevation in plasma LDL cholesterol promotes the deposition of cholesterol in the skin, tendons and coronary arteries (atherosclerosis) 7.