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Johns Hopkins Health Alert

Genetic Testing for Heart Disease: Is It a Good Idea?

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Having a family history of premature heart disease (heart disease in a father or brother younger than age 55 or in a mother or sister younger than age 65) is considered a risk factor for heart attacks.

Today, many investigators are searching for genes that might be associated with premature heart disease. A few have been identified, such as that for familial hypercholesterolemia (see below), and some companies already market tests that purport to assess risk. However, genetic research is still in its early stages. In addition, many of the genes involved in heart disease have not yet been identified, and having a particular gene mutation does not mean that you are destined to have a heart attack.

So for now, we advise against genetic testing for the vast majority of people with a family history of premature heart disease, because the results are unlikely to change your doctor's treatment advice.

What is inherited high cholesterol? -- Familial hypercholesterolemia is an inherited form of high cholesterol that results from a mutation in the gene for the low-density lipoprotein (LDL) receptor. About 1 in 500 people inherits a single copy of the mutated gene from either their father or mother.

In people with familial hypercholesterolemia total cholesterol levels are usually above 300 mg/dL and LDL cholesterols are above 200 mg/dL. In addition, men with the condition often have heart attacks in their 40s and 50s; women, in their 60s.

Because people with familial hypercholesterolemia have a one in two chance of passing the mutation on to their children, family members can benefit from a blood cholesterol test at an early age. High total and LDL cholesterol levels indicate the need to start treatment.

Treatment involves the same measures used for other forms of high cholesterol. Dietary changes are especially important, and medication is always needed. However, even with treatment, very few people with familial hypercholesterolemia are able to lower their cholesterol to normal levels.

People who inherit high cholesterol levels and have a positive family history should make an appointment with a doctor who specializes in lipids if they are unable to lower their LDL cholesterol substantially after six months to one year of treatment. For a referral to a physician in your area, call MEDPED (Make Early Diagnosis to Prevent Early Death) at 888-244-2465 or visit www.medped.org.

Posted in Heart Health on February 12, 2010
Reviewed January 2011


Medical Disclaimer: This information is not intended to substitute for the advice of a physician. Click here for additional information: Johns Hopkins Health Alerts Disclaimer


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Health Alerts registered users may post comments and share experiences here at their own discretion. We regret that questions on individual health concerns to the Johns Hopkins editors cannot be answered in this space.

The views expressed here do not constitute medical advice, and do not represent the position of Johns Hopkins Medicine or Remedy Health Media, LLC, which has no responsibility for any comments posted on this site.


I have three major concerns about this type of testing: (1) Insurance companies would love to have the results so they can deny coverage. (2) Drug companies would love to have the results so they can make more money selling expensive drugs. (3) Results could be devastating to patients, turning them into nervous wrecks. Thank you.

Posted by: sylvan | February 12, 2010 9:59 AM

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