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Genetic Testing Can Improve Management of Inherited Heart Conditions

Often caused by a single gene mutation, inherited heart conditions often present as structural problems (such as cardiomyopathies or aortic aneurysms) or electrical abnormalities (arrhythmias). Although the gene mutation itself cannot be modified, early diagnosis is critical for improved patient outcomes. When inherited heart conditions are detected prior to symptoms, the complications can often be successfully managed with medication, careful surveillance, activity restrictions and/or preventive surgery.

The UVA Cardiovascular Genetics Clinic is designed to help patients with or at risk for these inherited conditions. A comprehensive evaluation of a patient’s medical and family history, combined with advanced genetic testing enables a cardiologist and genetic counselor to determine the best course of treatment to lower or manage the risk of serious complications.

“Unfortunately, a lot of the inherited heart conditions have little-to-no symptoms, so the first recognized sign of disease may be sudden cardiac arrest,” says the clinic’s lead genetic counselor, Matthew Thomas, ScM. “Our goal is to identify those at risk sooner, so that we not only manage their condition but also inform family members of their potential risk.”

Indications for Genetic Testing

Part of UVA Heart and Vascular Center and UVA Children’s Hospital, the Cardiovascular Genetics Clinic offers services to patients with any known or suspected hereditary heart condition and their families. Some key indicators that signal the need for cardiovascular genetic testing include:

Process for Genetic Testing

When you refer a patient to the UVA Cardiovascular Genetics Clinic, a genetic counselor will:

When the results of the genetic test are available, a genetic counselor will review them in detail with the patient. “We work hard to ensure patients understand their genetic test results and feel comfortable with what they mean for their diagnosis and medical care moving forward,” says Thomas. Should the results of the genetic testing prove positive for a genetic condition, this comprehensive care extends to members of the patient’s family, who usually have a 50 percent chance of having the same condition.

After the patient is informed, all genetic test results are sent to the referring physician, along with the genetic counselor’s interpretation. The report includes guideline-based recommendations for how this information can be used to best manage the patient and his or her family members. “Communicating genetic test results to referring providers and primary care physicians is critical role of our clinic,” says Thomas. “We not only emphasize how genetic test results change a patient’s care, but also how they impact the at-risk family members who may also be cared for in the same practice.”

Learn more about the UVA Cardiovascular Genetics Clinic.

Watch a video segment featuring Matt Thomas, discussing inherited cardiovascular conditions.

Watch a video with cardiologist Robert Battle, MD, who provides an overview of the cardiovascular genetics program at UVA.