Genetic Heart Disease in Children

Cardiovascular Genetics Services

For More Information 855-855-6484

Duke's pediatric cardiologists and cardiovascular geneticists diagnose and treat inherited heart diseases, like certain arrhythmias, cardiomyopathies, heart malformations, and other conditions that can cause sudden cardiac death. We work closely with medical geneticists and genetic counselors to provide individualized evaluation, genetic testing, and guidance for children with genetic heart diseases and their families. Using advanced methods, we personalize the entire process so that you can make informed health care decisions for your child, their siblings, and the rest of your family.

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Genetics and Your Child’s Heart

Expert Care Is Crucial
If someone in your family has a genetic heart condition or has experienced sudden cardiac death, it’s important to test children and relatives early in life to help identify if any family members are at risk. In cases where there is no known family history, your child’s pediatrician or a pediatric cardiologist may detect genetic heart disease upon hearing a heart murmur or an irregular heartbeat or learning your child has experienced unexplained fainting, dizziness, heart palpitations, trouble breathing, chest pain, or weight loss. 

True genetic heart disease is rare and can be challenging to diagnose, so it’s important to be evaluated by a true expert. Because genetic heart conditions sometimes affect more than one person in a family, it’s vital that your child gets the right testing and that a team of experts helps your family understand and act on test results. At Duke, we offer highly specialized genetic testing to identify a range of inherited heart disorders, including:

As part of the Undiagnosed Diseases Network, Duke collaborated to discover one teenager's mysterious cause of death and helped protect his siblings from a similar fate.

Wired Magazine

Why Choose Duke
Our team of pediatric cardiologists, genetic counselors, heart surgeons, electrophysiologists, and others work together to identify and manage your child’s heart health. At Duke you’ll have access to various specialists and subspecialists, all working toward the same goal of keeping your child healthy. Our dedicated nurse navigator helps you manage your child’s evaluation and treatment journey, including scheduling appointments, setting up physician referrals, answering questions, and being the main point of contact for your child’s care team.

Our Locations

Duke Health offers locations throughout the Triangle. Find one near you.

Comprehensive Evaluation

Our specialized pediatric cardiologists collect a thorough medical and family history, perform a physical exam, and order testing that may include:

Electrocardiogram (ECG)
Electrodes are placed on your child’s chest to record the heart's electrical function. This test is quick and painless.

CT and MRI Scans
Machines capture images of your child’s overall heart structure, heart muscle function, and blood vessels. These tests usually take at least 30 minutes and are also painless.

Stress Test
Your child will exercise on a treadmill while their heart function is recorded with electrocardiography and blood pressure monitoring.

Event Monitoring
Your child will be fitted with a 24-hour wearable heart monitor that will record heart activity and abnormalities over the course of a day.

Clinical Trials at Duke

Our participation in the latest research on how genes influence heart disease ensures we are up to date on the most advanced treatments available. Your child may also be eligible to participate in clinical trials studying new therapies that aren’t available elsewhere.

Cardiovascular Genetics Services

In addition to heart testing, your child may benefit from specialized genetic testing and counseling.

Genetic Testing
Blood and/or saliva samples are gathered so we can examine your child’s DNA. These tests can determine whether your child carries a gene or a genetic mutation that could increase the risk for an inherited heart condition. We personalize testing for each child we see.

Advanced Heart Disease Detection
Our doctors are also scientists who are nationally recognized for using individual genetic studies to discover genetic heart disease. Our researchers can extract blood cells through a simple blood draw, revert them into stem cells, and then direct them to grow into heart cells. By observing these cells as they mature, researchers can learn more about what genetic components may be causing heart problems. 

Genetic Counseling
A genetic counselor and your doctor will share with you the results of your child’s genetic testing. We take time to educate you about your child’s condition, address your concerns, offer emotional support, connect you with resources, and discuss appropriate next steps.


Depending on your child’s condition and the results of genetic testing and genetic counseling, your child’s treatment options may include:

Long-Term Follow-Up and Screening Plan

Your child may not need intervention right away or at all. Rather, your child’s doctor may want to keep an eye on symptoms and see your child periodically for repeat exams and testing.


Medicines like beta-blockers and antiarrhythmics are customized for each child’s specific diagnosis or defect. 

Implantable Devices

Surgically placed devices like implantable cardioverter defibrillators (ICDs) or pacemakers can help regulate your child’s heartbeat. They detect irregular heart rhythms and deliver electricity to shock the heart back into a normal rhythm. In rare cases, ventricular assist devices (VADs) can help your child’s heart pump mechanically.

Heart Surgery

Any surgical options are discussed by a group of cardiologists, heart surgeons, intensive care doctors, anesthesiologists, and other team members. Before any recommendations or decisions are made, this group reviews all the details and agrees together on a plan.

Heart Transplant

In rare cases, a child’s best treatment option may be a heart transplant.

A gold badge shows Duke has been nationally ranked in 10 pediatric specialties for 2023 to 2024
#2 in Nation and #1 in NC for Pediatric Cardiology and Heart Surgery

Duke Children’s is ranked the #2 pediatric cardiology program in the nation and the best in North Carolina by U.S. News & World Report.

This page was medically reviewed on 07/13/2022 by