Genomics and Health

Heart Disease and Family History

Heart disease is the leading cause of death and a major cause of disability in the United States. More than 600,000 Americans die of heart disease annually. This represents almost 25% of all U.S. deaths. To raise awareness of this disease, February has been recognized as “American Heart Month” since 1963.

Some conditions, such as high cholesterol, high blood pressure, and diabetes, as well as lifestyle factors, such as unhealthy diet, obesity, physical inactivity, and alcohol and tobacco use, can put people at a higher risk for developing heart disease. A tendency toward heart disease can cluster in families; thus, family medical history offers important information for identifying risk in individuals. Such histories can capture the effects and interactions of shared genetic and environmental factors that lead to disease in a family.

Several genetic disorders are associated with increased risk of premature heart attacks. A relatively common disorder is familial hypercholesterolemia, which causes high levels of "bad" cholesterol (low density lipoprotein, or LDL cholesterol) beginning at birth. One out of 500 people in the United States may inherit this condition. Early detection of this disorder can help reduce the burden of heart disease in the person with hypercholesterolemia as well as in their family members. In the future, genetic testing to determine personal-risk estimates for heart disease may also prove useful, but this approach has not yet been scientifically validated.

The chance of developing heart disease can be reduced by taking steps to prevent and control factors that put people at greater risk. Individuals can help prevent heart disease by eating a healthy diet, maintaining a healthy weight, exercising regularly, limiting alcohol use, and not smoking. Individuals and their family members can also collect and record their family history information using the My Family Health Portrait