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For Your Patients: Should My Family Be Checked for Cardiomyopathy Too?

— Genetic testing is recommended for relatives in some situations

MedpageToday
Illustration of a strand of DNA and microscope over a heart with cardiomyopathy

Your physician likely asked early on when you were getting your diagnosis of cardiomyopathy whether you have relatives who have been told they have cardiomyopathy or heart failure or who died suddenly without a known cause. This kind of family history is common with many types of heart muscle disease caused by inherited genetic variations.

Joint from medical societies specializing in cardiovascular care recommend genetic testing along with interpretation by a genetic counselor if you have certain genetic or inherited cardiomyopathies. This can help determine the best treatment strategy and the potential course of your condition.

After your diagnosis with one of those types of cardiomyopathy, your close family members might also consider getting screened. That's especially true for those with whom you share the most DNA -- your parents, siblings, and children, a group known as first-degree relatives.

The guidelines point to people who carry genetic variants associated with cardiomyopathy or who have a family member with cardiomyopathy as being at risk for developing heart failure themselves, even if they don't have symptoms. Screening can catch this risk early so that medication and other strategies can be started before problems develop and potentially prevent serious cardiovascular events or sudden death.

Testing may turn up a "pathogenic" variant that causes cardiomyopathy. Although this means the person carrying it has higher risk, it doesn't always mean that the carrier has the disease or will develop it. Results might also show genetic variants that aren't yet clearly shown to cause disease or to contribute to risk.

As scientific evidence develops, though, those variants may be reclassified as pathogenic or harmless. Carriers might consider reaching out to a genetic counselor every 5 to 10 years to reassess risk.

Unless testing shows that a close family member doesn't have the genetic variation that contributed to your cardiomyopathy, he or she should also get periodic screening with a noninvasive testing of the electrical activity of the heart (electrocardiography) and sound wave-based imaging of the heart (echocardiography).

Of course, a healthy lifestyle is recommended for all individuals. However, regular physical activity, eating a healthy diet, not smoking, and maintaining normal weight, blood pressure, and blood glucose levels may be especially important for those at risk. These factors have been associated with a lower lifetime risk of developing heart failure and greater preservation of normal heart structure.

Read previous installments in this series:

Understanding Your Diagnosis of Cardiomyopathy

What to Expect When Your Doctor Suspects Cardiomyopathy

How to Prepare for Your Cardiomyopathy Appointment

"Medical Journeys" is a set of clinical resources reviewed by doctors, meant for physicians and other healthcare professionals as well as the patients they serve. Each episode of this 12-part journey through a disease state contains both a physician guide and a downloadable/printable patient resource. "Medical Journeys" chart a path each step of the way for physicians and patients and provide continual resources and support, as the caregiver team navigates the course of a disease.