Cardiovascular Genetics Center

Learn how genetic counselors and cardiology specialists use family history, genetic testing, and cardiac screening to identify and understand inherited heart conditions

Genes and Genetics Basics Explained by a Genetic Counselor

Genetic Testing for Heart Disease Explained

Genetic Counselor Explains How She Uses Family History to Identify Cardiac Risks

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Cardiovascular genetics focuses on how genetic factors can affect the heart. Some heart conditions are passed down through families, even when symptoms are mild or not yet present. Others can be new in a child and not inherited. 

In our program, we provide comprehensive clinical cardiac evaluation, genetic counseling, testing coordination and family screening when appropriate to:   

• Identify genetic conditions specific to the hearts 
• Evaluate a suspected diagnosis  
• Determine who else in the family may be at risk  
• Guide monitoring, prevention and treatment  

This information helps families better understand their heart health and make informed decisions about care. 

A cardiovascular genetics evaluation may be recommended for children and families who have: 

• A known or suspected inherited heart condition  
• Diagnoses of syndromic heart disease including Williams syndrome, Marfan syndrome, Loeys-Dietz syndrome,
• Vascular Ehlers-Danlos syndrome and RASopathies 
• A family history of cardiomyopathy, arrhythmias, hypercholesterolemia or aortic disease 
• A history of sudden cardiac death in the family  
• A relative with a diagnosed genetic heart condition  
• Questions about screening for siblings, parents or other relatives  

If you are unsure whether your child or family should be evaluated, our team can help determine the next steps. 

Our program offers specialized services for children and families at risk for inherited heart conditions:

• Genetic Counseling – Education and guidance about genetic underpinnings of heart conditions, testing options and what results may mean for your child and family
• Family History Assessment – A detailed review of your family’s health history to identify patterns that may suggest a genetic condition
• Genetic Testing – Advanced testing to detect gene changes associated with cardiovascular disease
• Cardiac Risk Assessment – Evaluation for your child with a cardiologist with genetics expertise
• Screening for At-Risk Relatives – Recommendations for heart screening and/or genetic testing for family members
• Care Coordination – Close collaboration with pediatric cardiology and other specialists to develop a personalized care plan

• Hypertrophic Cardiomyopathy (HCM) – A condition where the heart muscle becomes thickened, which can make it harder for the heart to pump blood effectively.  
• Dilated Cardiomyopathy (DCM) – A condition in which the heart muscle becomes enlarged and weakened, reducing its ability to pump blood.  
• Arrhythmogenic Cardiomyopathy (ACM/ARVC) – A condition that causes changes in the heart muscle and can lead to abnormal or irregular heart rhythms.  
• Long QT syndrome – A disorder of the heart’s electrical system that can cause fast, irregular heartbeats and the risk of fainting or sudden cardiac events.  
• Brugada syndrome – A specific genetic condition that affects the heart’s rhythm and may increase the risk of dangerous arrhythmias 

The Connective Tissue Disorder Program at Lurie Children’s provides comprehensive care and genetic counseling to patients — from infants to young adults — who have disorders of the connective tissue, such as Marfan syndrome and Loeys-Dietz syndrome.

Our Williams Syndrome Program is another multidisciplinary program that provides care for people with Williams syndrome. 

The RASsopathy Program also provides care for patients with RASopathies, such as Noonan syndrome, which can impact numerous body systems including the heart.

At your first visit with our Cardiovascular Genetics Program providers, our team will take time to understand your child’s health history and your family’s history of heart disease. We focus on providing clear information and helping you feel confident about next steps. 

You may meet with a genetic counselor and pediatric cardiology specialists who will explain possible diagnoses, discuss whether genetic testing is appropriate and outline a personalized care plan. 

During your visit, you can expect: 

• A detailed review of your child’s medical history  
• A discussion of your family’s cardiovascular history  
• Education about inherited heart conditions  
• Guidance on genetic testing and screening options  
• Recommendations for follow-up care or monitoring  

We can work with you to determine if Lurie Children’s is in-network for your plan. If you would like to talk to one of our insurance counselors directly, the number is 312.227.1230. View a list of insurance plans we accept.

If Lurie Children's is not in-network, we are often able to help connect you with an in-network provider.

Our cardiovascular genetics providers are dedicated to developing clinical and genetic strategies to improve outcomes for patients and families. 

View the resources below for more information on our team's research. 

Recent Publications

• The Prenatal Diagnosis and Perinatal Management of Congenital Long QT Syndrome: A Comprehensive Literature Review and Recent Updates
• A Case for Inclusion of Genetic Counselors in Cardiac Care
• Cardiac Evaluation of Children With a Family History of Sudden Death
• Changes in Genetic Variant Results Over Time in Pediatric Cardiomyopathy and Electrophysiology
• Genetic Counselors' Approach To Postmortem Genetic Testing After Sudden Death: An Exploratory Study
• Screening for Prevention of Sudden Death in the Young: What Is New?
• Desmoplakin Cardiomyopathy in Pediatric Patients: A Distinct, Underrecognized Cohort of Arrhythmogenic Cardiomyopathy
• Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy

Additional Resources

• A Child Caught Is A Child Saved: Merging Clinical Testing & Genetic Discovery
• Dr. Webster's Northwestern University Feinberg School of Medicine profile
• Lurie Children's Heart Center's ongoing research initiatives

For additional information, please refer to the resources included below: 

• Collect and draw your own family health history at My Family Health Portrait
• Get more information on when to refer to Cardiovascular Genetics