Inherited heart diseases are caused by a change (mutation) in one or more of your genes. Heart disease may also be multifactorial, meaning conditions may be associated with both genetic and environmental risk factors. Since cardiovascular disease is the leading killer of American men and women, knowing whether you may have an increased genetic risk can be lifesaving.
Many types of heart disease can be inherited, including abnormal heart rhythms (arrhythmias), aneurysms, cardiomyopathy, and high cholesterol. If you find a genetic risk for heart disease, you can help prevent or treat it before symptoms begin.
Watch for these signs in your personal and family health history:
If you see these red flags in your family tree, you should inform your doctor and ask whether cardiovascular genetic counseling and testing may be right for you.
Genetic counseling occurs before genetic testing is considered. Cardiovascular genetic counselors specialize in providing risk assessment and genetic testing for heart disease. Meeting with a genetic counselor does not always mean a person is ready to have testing. Some people come in for an evaluation to learn about their options and to understand the implications of testing for themselves and their family members.
During your initial genetic counseling session, your genetic counselor will review your relevant clinical history, obtain a three-generation family history (pedigree), provide a familial risk assessment, and offer baseline genetics education. Your genetic counselor will also provide extensive information regarding genetic testing and will review different testing options and potential results. The counselor will discuss the cost of testing, insurance coverage and legal protections from genetic discrimination, as well as the implications of both positive and negative test results.
Helpful information to know before your appointment:
If a patient decides to proceed with genetic testing, our staff will coordinate the testing process including the sample collection and insurance coverage.
Your genetic counselor will follow up with your genetic testing results. It is possible that your genetic testing results may change clinical management and surveillance recommendations. This may include imaging tests like an echocardiogram or cardiac MRI, earlier intervention, or starting preventive medications. The genetic counselor may also assist in facilitation of cascade testing and counseling for at risk family members when a positive test result is identified. Even when a person tests negative for genetic mutations, they still may have a higher-than-average risk of heart disease due to family history. Patients at high risk for heart disease based on family history may still have various increased screening options available to them.
Your genetic counselor will discuss insurance coverage for genetic testing with you during your appointment. Most patients will be informed if there is an anticipated out of pocket cost for genetic testing and will receive a real time cost estimate from their genetic counselor when the order is placed. Some people worry that their health insurance company may discriminate because of a genetic test result; however, there have been very few documented cases of insurance discrimination and there are both state and federal laws in place to protect individuals from such discrimination.
Patients with a personal or family history of the following types of heart disease are most often considered for a genetics evaluation:
The Cardiovascular Genetics Program offers appointments by phone or in person at several office locations. To speak with a genetic counselor or to schedule an appointment, please call our office at 404-851-6284 or email cardio.genetics@northside.com. A referral from your physician may be required to schedule an appointment.
