Genetic Testing Disease Risk Profiling Heart

Heart disease is the leading cause of death in the United States. While heart disease has complex causes, research has shown that certain gene mutations can increase the risk for some forms of this condition. Learning about genetic disease risks can help in the management of heart disease by encouraging lifestyle changes and preventative treatments.

Understanding Genetics Heart Disease

Heart disease often seems to run in families, and twin studies reveal a powerful link between genetics and heart disease. Recently, scientists discovered a DNA strand that is currently the strongest known genetic factor for inherited heart disease. People with this strand are:

  • at a dramatically higher risk of coronary heart disease
  • at a 40 percent overall risk of heart disease with a lifetime risk of 60 percent
  • twice as likely to suffer from premature heart attacks as those without the strand.

Almost a quarter of Caucasian people carry this dangerous genetics heart disease strand. This strand also causes cells to multiply too quickly, and can increase cancer risk.

How to Identify Genetics for Heart Disease

A test for the DNA strand linked to heart disease is under development and will hopefully be available within the year. A DNA sample for testing can be easily collected with a painless cheek swab, or from blood. It is important to understand that the strand only identifies risk for inherited heart diseases including:

  • dilated cardiomyopathy
  • familial aortic aneurysm
  • hypertrophic cardiomyopathy
  • inheritied arrhythmia
  • Marfan syndrome.

This test will not assess risk for other types of heart disease including such as atherosclerosis, hypertension or ischaemic heart disease. While genetic research is promising, the best current measure of heart disease risk is still family history.

Marfan Syndrome - Genetics and Heart Disease

DNA Testing for Heart Disease Results

A genetic test for heart disease can only evaluate risk and can not diagnose disease. It can not predict when or if a person will actually develop heart problems. Testing can still be beneficial in many ways. Healthy lifestyle choices can help reduce disease risk for those found to have a high risk profile. Here are a few heart healthy choices:

  • a nutritious diet
  • maintaining a healthy weight
  • not smoking
  • regular exercise.

Doctors may encourage those with particularly high risks to begin taking cholesterol lowering drugs or other preventive medication. Annual heart scans may also be recommended so that heart disease can be treated at its earliest stages. With any DNA test, it is important to include genetic counseling to help you understand your results and handle emotional consequences.

Testing for heart disease risk can help keep entire families healthy. Those who discover they carry the high risk strand can alert family members who may want to be tested themselves. Those planning to be parents can undergo pre-natal genetic counseling to learn about the odds of passing the strand on to their children.

Being aware of risk is the first step toward successful treatment and management of heart disease. Early diagnosis and treatment often help those with heart disease manage the condition and live healthier lives.


BWH (2007). Frequently Asked Questions: Cardiovascular Genetics Center. Retrieved September 16, 2008, from the Web site:

Sample, Ian. DNA Find May Identify Early Heart Risk Victims. Retrieved September 16, 2008, from the Guardian Web site:

Weaver, W. Douglas (2008). Are There Any Genetic Tests For Heart Disease? Retrieved September 16, 2008, from the Web site: