Cardiovascular Genetic Testing

An inherited risk for cardiac disease means that a person was born with a faulty or irregular gene — a mutation — that can increase their chance for certain heart conditions.

If we find out that you have one of these mutations, we can offer specialized cardiac screening and/or treatments. This can help you and your doctors manage your risk to keep you as healthy as possible.

Knowing about a heart gene mutation also can help you understand your family's risk for cardiac disease. It can help you and your family take steps to lower your overall risk.

DNA is a chemical that lives in our cells. It is passed down genetically from our birth parents. DNA has specific instructions for how our bodies are formed and how they function, grow and stay healthy. Hair, heart, muscles, bones, teeth — all parts of the body are created from our DNA code.

Genes are sections of DNA that have a particular set of instructions. Changes in a gene (mutations) can cause the gene to stop working as it should.

It is important to gather information about your family’s health history. We'll ask about your children, siblings, parents, nieces, nephews, grandparents, aunts and uncles on both sides of your family. Before your appointment, try to find out this information:

• Which family members have had a heart condition
• What type of heart condition they had
• Ages they were diagnosed
• Ages that family members passed away and what caused them to pass away (a heart condition or another cause)

If you or any family members have already had genetic testing, please bring a copy of the test results to your appointment.

You will meet with a genetic counselor and/or a doctor. During your visit, our team will discuss these and other things with you:

• Review your personal and family history in detail, focusing on heart conditions in your family
• Assess the likelihood that a genetic heart condition runs in your family
• Provide information on basic genetics
• Discuss the options for genetic testing, including the benefits, risks and limitations
• Help you make an informed decision about genetic testing

After your visit, we will follow up with results, more information and resources. If our team identifies a cardiovascular concern, doctors will take these steps:

• Follow you and your family members over the long term
• Recommend preventive measures and proactive treatments
• Work to reduce your cardiovascular disease risk and manage existing heart disease

If our team does not recommend medical management of your condition, we’ll work with BIDMC cardiac surgeons to offer you surgical options for your genetic heart disease, such as hypertrophic cardiomyopathy.  

Genes may play a role in whether you develop an aortic aneurysm, particularly a thoracic aortic aneurysm (TAA). Conditions that increase the risk of aortic aneurysm include these and others:

• Aneurysm-osteoarthritis syndrome
• Bicuspid aortic valve
• Family history of thoracic aortic aneurysm and dissection (TAAD)
• Loeys-Dietz syndrome
• Marfan syndrome
• Polycystic kidney disease
• Turner syndrome
• Type IV (vascular) Ehlers-Danlos syndrome

The Aortic Center at BIDMC provides these comprehensive services for those who may have an increased risk of aortic aneurysm due to genetic factors:

• Coordination of multidisciplinary care with medical and surgical specialists
• Individualized counseling about genetic test results
• Latest genetic testing and screening
• Long-term, follow-up care