Genetic Testing for Heart Disease: What You Need to Know

Genetic testing and counseling can be important tools to understand and care for your family's cardiovascular health. In this post, Lurie Children's cardiovascular genetic counselors Sara Cherny, MS, CGC;  Sarah Jurgensmeyer Langas, MS, CGC; and Angelique Mercier, MS, CGC answer some of the most frequently asked questions about genetic testing in cardiology. 

What is genetic testing and why does it matter in healthcare? 

An important component of our body’s makeup is our genetic material, such as deoxyribonucleic acid (DNA), which carries the code for how we grow and develop.  Genetic testing is a process that examines an individual’s genetic material for specific, unique changes or variations.   

The results can help diagnose genetic conditions or identify individuals at risk of passing certain health conditions to their children, such as cardiac arrhythmias or conditions affecting the heart muscle or blood vessels. In prenatal care, results may help guide monitoring during pregnancy and inform care at birth. In children, informative genetic test results can support early heart screening and monitoring before symptoms appear.  

Who should consider genetic testing for heart conditions? 

Some heart conditions may be due to an underlying genetic cause. Meeting with a genetic counselor and learning about genetic testing for heart disease might be recommended for your family depending on the specific type of heart condition diagnosed in your child and/or other family members. Genetic conditions may include: 

• Arrhythmias
• Congenital heart disease
• Cardiomyopathy
• Familial hypercholesterolemia (high cholesterol) 
• Inherited aortic disease (aortic aneurysm/dissection), including Marfan syndrome and related connective tissue disorders 

If you are wondering if genetic testing could be beneficial for your family, speak to a genetic counselor. If your child has a known cardiac diagnosis, their cardiologist can refer you for a genetic counseling visit. If a family member has a known cardiogenetic diagnosis that you’d like to discuss, your pediatrician can also provide a referral for your family. During your visit, the genetic counselor can answer your questions, help you understand if genetic testing is right for you and support you through the process.  

Learn more about what to expect during genetic counseling. 

How is genetic testing performed? 

You will provide a sample, such as blood or a cheek swab, from which your genetic information can be analyzed in a laboratory. Depending on the type of test ordered, results are available in 3-10 weeks. You will have the opportunity to discuss your test results with your provider and ask any questions. 

Learn more about genetic testing for heart disease below:

What to Expect After Genetic Testing 

Once results are ready, your genetic counselor or other healthcare provider will review them with you. Your care team will explain what each type of result means in the context of your child’s symptoms, heart testing, medical history and family history. 

Depending on the results, there may or may not be recommended changes to medical care. Some results help guide monitoring, follow‑up schedules or treatment decisions, while others may simply provide additional information. It’s also possible that additional genetic testing may be recommended for other family members based on the results.  

What do genetic test results mean? 

There are generally three kinds of genetic test results.   

The first is a positive result, meaning a pathogenic variant was identified, which may be associated with one or more health conditions. In this case, genetic testing can be offered to other family members through a process called cascade testing to determine who may be at risk for heart disease.  

Other times, a test result finds variants in the genetic code that may or may not be associated with a disease. These are called variants of uncertain significance (VUS) and are not uncommon. Our understanding of these variants may change over time, so further research may be needed to determine whether this variant is associated with an increased risk of a specific cardiac condition.  

A negative result is when no genetic variants of interest are identified. This type of result can be reassuring but does not completely rule out the possibility of a genetic contributor to heart disease.  

What is cascade genetic screening? 

Cascade genetic screening is a process that offers genetic counseling and testing to biological relatives of someone who has a positive genetic test result. This process identifies individuals who may be at risk of developing the same condition so that they can take steps to prevent or manage the disease. Cascade screening is an important way to make sure every family member is provided with timely and complete care.   

Learn more about cascade genetic screening below:

Genetic testing is a powerful tool that can be used to improve our understanding of human health and disease. It is also important to discuss the benefits, limitations and results of genetic testing with a genetic counselor or other healthcare professional to understand how they may affect you and your family. 

Find out more about Lurie Children’s Genetic Counseling. 

Benefits and Limitations of Genetic Testing 

Genetic testing can help identify inherited heart conditions that may run in families, sometimes even before symptoms appear. For some people, testing can clarify the cause of heart problems and help your medical team better understand future risks for both individuals and their children. Results may guide care decisions, such as how closely the condition should be monitored, whether certain medications or devices might be helpful, or whether lifestyle changes are recommended. If a genetic cause is found, relatives can be tested in the future as well. 

However, genetic testing also has limitations. Not all heart conditions have a known genetic cause, so results may be negative or unclear even when a heart problem is present. Some findings are classified as a “variant of uncertain significance” (VUS), meaning there is insufficient information to determine if the genetic change is associated with heart disease or if it has no effect.  

Having a genetic variant does not always mean you will develop heart disease, and genetic testing may not always change treatment. For these reasons, testing decisions are best made through discussion with a genetic counselor, taking into account your medical history, family history and personal preferences. 

Frequently Asked Questions 

A distant relative of mine had heart disease. How concerned should I be for my child? 

In many cases, a single distant relative with heart disease does not significantly increase the risk for your child. Many heart conditions, especially those that appear later in adulthood, are influenced by a mix of genetics, lifestyle and environment. When the affected family member is far removed (for example, a great‑uncle or a cousin), the amount of shared genetic material is smaller. 

There are a few situations where it makes sense to look more closely: 

• The heart condition was diagnosed at a young age (typically before age 50).
• Multiple relatives on the same side of the family have had similar heart problems.
• The condition is known to be inherited, such as cardiomyopathy or arrhythmias.
• A relative died suddenly of known or suspect cardiac causes.
• Your child has symptoms, or your pediatrician has raised concerns. 

If none of these apply, the chance that your child is at increased risk is likely low. Still, if you’re unsure, a genetic counselor or pediatric cardiologist can review your family history and help determine whether testing would be useful. 

Does a negative result mean my child will be fine? 

A negative result means that no known genetic cause was identified with the testing performed. This is reassuring, but it does not always rule out the possibility of a heart condition. Some heart conditions are caused by genetic changes that are not yet known or cannot be detected with current testing. Your child’s care team will continue to use medical history, family history, physical exams and heart testing to guide care. 

Should siblings or future children be tested? 

Whether siblings or future children should be tested depends on the specific genetic results, family history and the type of heart condition involved. If a genetic cause is identified, testing may be recommended for parents, siblings or future children to see who may benefit from monitoring or early care. If no genetic cause is found in the person with a history of heart disease, genetic testing is often not needed for other family members, but your care team or a genetic counselor can help guide these decisions for your family. 

Can a VUS become reclassified later? 

Yes. A variant of uncertain significance (VUS) may be reclassified over time as researchers learn more about the variant and gene in question. For this reason, genetic testing results may be reviewed again in the future, and your care team may contact you if new information becomes available. You are also welcome to contact the genetic counselor who ordered your child’s test to learn if there have been any updates. 

Is genetic testing painful or risky? 

The process of genetic testing itself is usually not painful and carries little risk. Most tests are done using a blood sample or a saliva sample. However, decisions around genetic testing are personal to each person and family. Your healthcare team will explain how the test is done, benefits and limitations, and answer any questions before you make a decision about proceeding.  

Find out more about Lurie Children’s Genetic Counseling. 

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