By identifying changes in our chromosomes, genes, or proteins, genetic testing can confirm the presence of diseases that are a result of a genetic mutation. This is accomplished, mainly, by providing a sample of blood, hair, skin, amniotic fluid, or other tissue which is then checked for any changes in our genes. While genetic testing is mainly done for genetic mutations, in recent years it has also been used to test for risk factors concerning Cardiovascular diseases and disorders.

Genetically Influenced Heart Diseases

Our genes control many aspects of how our cardiovascular system functions. A single, genetic mutation, then, can drastically impact our likelihood of developing a cardiovascular disease later on in Iife. Many cardiac diseases and disorders can be inherited from one generation to the next, including, but not limited to:

  • Arrhythmias (such as Atrial fibrillation)
  • Brugada syndrome
  • Loeys-Dietz syndrome
  • Long QT Syndrome
  • Marfan Syndrome
  • Familial amyloidosis
  • Familial dilated cardiomyopathy
  • Hypertrophic cardiomyopathy

Genetic Testing

With so many diseases linked to genetic mutations, it is crucial, then, that patients undergo the proper testing to determine if they are genetically inclined to develop these diseases either now or into the future. It is important, however, to test the most affected person in a family in order to best identify the existence of these mutations. This is because by testing less-affected family members, you may only identify less important mutations while overlooking those that have a more significant contribution.

Framingham Heart Study

Perhaps the most enlightening study on cardiovascular diseases is the Framingham Heart Study. Beginning in 1948, the FHS recruited 5,209 men and women between the ages of 30 and 62 from the town of Framingham, Massachusetts to participate in the most extensive heart study done to-date. It followed all participants over decades to see how heart disease develops. However, the study took another angle in 1971, when they began to study the children of the original participants, and in 2002 when they began to study the grandchildren of the “Original Cohort.” These two additional phases sought to determine how cardiovascular disease are inherited and what role genes play in regard to heart disease, high blood pressure, lung disease, and osteoporosis.

With studies such as the FHS, we are learning more about how closely linked genetics and heart disease is. Using genetic testing, then, can help prevent cardiovascular diseases in many patients.