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, behavioral, 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) starting at an early age. About one in every 500 people in the United States have this condition. Early detection of this disorder can help reduce the burden of heart disease. People diagnosed with familial hypercholesterolemia can take steps to lower their levels of "bad" cholesterol. Finding familial hypercholesterolemia in one person in a family can alert other family members to their increased risk, so that they can find out if they have the condition and, if so, take steps to reduce their risk. 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 tool, and share this information with their doctors.
For more general information:
- Heart disease, Centers for Disease Control and Prevention (CDC)
- HeartHub, American Heart Association
- Vital signs: High Blood Pressure and Cholesterol, CDC
- Million Hearts™ is a national initiative to prevent 1 million heart attacks and strokes by 2017
For more information about family history and heart disease:
- Family Health History
- Jim’s Story: A Family History of Coronary Heart Disease Case Study[PDF 836.77 KB]
For more information about heart disease and genetics:
- CDC Podcast on Familial Hypercholesterolemia
- Cascade Screening for Familial Hypercholesterolemia (FH), PLoS Currents: Evidence on Genomics Tests
- Information on Familial Hypercholesterolemia, National Library of Medicine
- Clinical Guideline: Identification and Management of Familial Hypercholesterolaemia[PDF 746KB], National Institute for Health and Clinical Excellence (NICE), United Kingdom
- Recommendations from the EGAPP Working Group: Genomic profiling to assess cardiovascular risk to improve cardiovascular health