Cardiovascular Genetics

Cardiovascular Diseases Genetics

Vascular occlusion or Thrombosis is when a vein is blocked by a blood clot that forms inside a vein. Venous thrombosis is the name given to the formation of blood clots in the veins. If thrombosis in a vein is detached from the place where it first occurred and travels inside a vein, it is called an embolism.

Causes Of Thrombosis

• Slow blood flow
• Deterioration of the blood structure
• It occurs as a result of deterioration of the internal structure of the vein.

Thrombosis Results:

• Heart attack as a result of blockage of heart vessels
• Pulmonary embolism as a result of obstruction of the lung vessels
• Stroke or paralysis as a result of clogging of cerebral vessels
• Vascular occlusion in the arms and legs causes superficial or deep vein thrombosis, Blockages in the internal organ veins cause thrombosis in the liver, kidney and intestines

Risk Factors That Predispose To Thrombosis And That Occur Later

These factors include conditions such as pregnancy, obesity, old age, smoking, blood diseases such as polycythemia, essential thrombocythemia, antiphospholipid syndrome, diseases that adversely affect all systems such as heart failure, cancer and nephrotic syndrome, the use of drugs such as birth control pills, erythropoietin, tamoxifen, thalidomide, includes surgeries and trauma, particularly affecting the large vessels. Inactivity during long journeys (especially air travels that take six hours or more) and prolonged bed rest due to diseases are also factors that increase the development of blood clots.

Inherited (Genetic) Risk Factors In Thrombosis

A tendency for thrombosis is called thrombophilia. Hereditary thrombophilia refers to genetic problems that cause blood clots to form more easily than normal individuals. Hereditary risk factors such as Antithrombin, Protein C or Protein S deficiency predispose to clot formation in patients younger than 50 years old.

If a patient with thrombosis has no known disease or recent surgery, the presence of inherited risk factors should be considered.

Genes And Mutations Related To Hereditary Thrombosis:

• Factor V G1691A (Leiden): It is an important risk factor in hereditary thrombophilia. Activated Protein C (APC) activates the formation of resistance, it is present in 20-50% of thromboembolic patients.
• FactorV H1299R (R2): It is a milder risk factor. If Factor V G1691A (Leiden) carriage coexists, thromboembolic risk increases.
• Protrombin G20210A: The risk of brain and deep vein thrombosis is tripled.
• MTHFR C677T: Increased risk of arterial and venous thrombosis in homozygotes.
• ApoE (E2, E3, E4): E4 allele is a risk factor for early heart attack especially in smokers due to high bad cholesterol (LDL) and total cholesterol.
• MTHFR A1298C: If combined with MTHFR C677T, it is considered a cardiovascular risk factor.
• Factor XIII V34L: L variant has a protective effect against venous thromboembolism.
• GPIIIa L33P (HPA-1): HPA 1b is a risk factor for early heart attack and stroke.
• ACE I/D: It is a risk factor in the elderly and smokers.
• PAI-1 4G-5G: 4G allele is a risk factor for moderate venous thromboembolism.
• Fibrinojen -455 G>A: It increases the risk of early heart attack and stroke by increasing the level of fibrinogen.
• ApoB R3500Q: Risk factor for severe hyper cholesterol elevation and arteriosclerosis.

Our clinic dedicated to evaluating, counseling, and treating patients and families with genetic heart diseases. We serve extended Thrombophilia Panels and many different Cardiology panels for the detection and prevention of Cardiovascular diseases. 

For more information please contact us.