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Cardiovascular Genetics Clinic Services

Appropriate treatment of inherited cardiovascular diseases is most effective when directed by individuals who have expertise in this unique area of cardiovascular disease. Unlike more widely known forms of heart and vascular disease that may develop over time because of diet or other lifestyle factors, inherited cardiovascular disease may result from a gene mutation. Gene mutations can lead to weakness of the heart muscle, known as cardiomyopathy, irregular heart rhythms or vascular disease. Specialists at the University of Chicago have the focused knowledge and the resources to address these unique conditions in individuals who are known to have the condition and in family members who are at risk.

The program here combines the best of standard treatments and the latest in testing to diagnose and treat inherited forms of cardiovascular disease. With the use of genetic testing, we may be able to diagnose those who are at risk for heart disease before it has developed. We make therapy recommendations to prevent heart disease in those who are at risk. In addition, research-based studies may be available, if patients choose to participate.

Our comprehensive services include diagnosis/risk assessment, treatment and prevention/risk reduction.

Previsit Evaluation

Prior to your visit, we will work with you to gather medical record information, including results from prior imaging tests. We will then coordinate your visit so that comprehensive testing, if needed, can be offered on the day of your visit.

Diagnostic Services

The first step in effective treatment is properly identifying the problem and its cause. The University of Chicago Medicine uses the latest findings to guide the use of genetic testing. Genetic testing can identify gene abnormalities associated with specific types of cardiovascular disease.

Grandfather, father, son

Diagnosis may include: Review of medical records, cardiovascular imaging and testing, gathering extensive family history to identify patterns of heart disease within the family tree. Based on the family tree and clinical diagnosis, genetic testing may be recommended to identify genetic mutations associated with cardiovascular diseases within a family. These analyses also help us identify family members who are at risk for inherited cardiovascular disease.


Once a diagnosis is established, we generate a treatment plan to reduce symptoms and the risk of future disease. This plan may include recommendations for managing heart failure, irregular heart rhythms and for treating vascular disease. In some instances where advanced-level care is required, we work in consultation with other cardiologists to recommend a treatment plan.

Genetic counseling and family education are important complements to the genetic testing process. We want to make sure that patients and family members clearly understand the results, and use the findings and all available medical information to make decisions they’re comfortable with regarding treatment or other interventions.

Preventive Services

Preventing or reducing heart disease when possible is a key goal of this program. Because of the inherited aspect of these diseases, our approach welcomes the patient’s immediate or extended family members by encouraging prevention and treatment options when available. Where appropriate or desired, we also may perform genetic testing on family members to determine their risk for specific types of heart disease, so that we can recommend preventive steps to lower their risk.

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