Heart disease and aortic aneurysm related

Heart disease and aortic aneurysms are known to be associated with increased risk due to genetic factors. Through genetic testing, it is possible to identify genetic mutations associated with these diseases and assess an individual’s risk. This allows for early detection, implementation of preventive measures, and appropriate treatment planning.

Heart disease-related genetic testing

There are a wide variety of types of heart disease, but some diseases that have a particularly strong genetic component include the following

• Familial hypercholesterolemia:
  • Abnormally high levels of LDL cholesterol increase the risk of heart disease. This condition can be caused by certain genetic mutations (e.g., LDLR, APOB, PCSK9 genes).
• Hereditary cardiomyopathy:
  • It is a genetic disease that affects the structure and function of the myocardium, including abnormal enlargement of the myocardium (hypertrophic cardiomyopathy) and failure of the myocardium to function normally (dilated cardiomyopathy). Numerous genetic mutations are associated with the disease, including MYH7 and TNNT2.
• Long QT syndrome:
  • It is characterized by prolongation of the QT interval on the ECG and carries the risk of causing sudden cardiac arrest. It is caused by genetic mutations (e.g., KCNQ1, KCNH2).

Aortic aneurysm-related genetic testing

Aortic aneurysm is a disease in which a portion of the aorta becomes abnormally dilated and can be life-threatening if it ruptures. The following genetic tests can be useful, especially when hereditary factors are considered.

• Marfan Syndrome:
  • Mutations in the FBN1 gene cause a variety of ocular, skeletal, and cardiovascular conditions. The risk of aortic aneurysm and aortic dissection is particularly high.
• Loeys-Dietz syndrome:
  • It is caused by mutations in the TGFBR1 or TGFBR2 genes and leads to facial abnormalities, skin abnormalities, and cardiovascular problems (especially aortic aneurysms).
• Familial aortic aneurysm:
  • When aortic aneurysms run in families, genetic mutations such as ACTA2 and MYH11 may be involved.

Advantages and Cautions of Genetic Testing

Genetic testing can identify early risk for these heart diseases and aortic aneurysms and may reduce the risk of complications through preventive treatment, lifestyle changes, and regular monitoring. However, genetic testing should be accompanied by professional counseling, and the advice of a medical professional is essential in interpreting the results. Concerns regarding the privacy of genetic information and insurance coverage should also be considered. Because the results of genetic testing have important implications for individuals and families, it is important to fully understand these points before undergoing testing.