Genetic Heart Disease in Children

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. 

Types of Genetic Heart Diseases We Treat
At Duke, we offer highly specialized genetic testing to identify a range of inherited heart disorders, including:

Arrhythmias:

• Brugada syndrome
• Catecholaminergic polymorphic ventricular tachycardia
• Idiopathic ventricular fibrillation
• Long QT syndrome
• Short QT syndrome

Cardiomyopathies:

• Arrhythmogenic right ventricular cardiomyopathy
• Dilated cardiomyopathy
• Hypertrophic cardiomyopathy
• Left ventricular non-compaction
• Restrictive cardiomyopathy

Connective tissue disorders:

• Loeys-Dietz syndrome
• Marfan syndrome

Malformations of the heart and other congenital heart defects:

• Atrial or ventricular septal defects
• Bicuspid aortic valve
• Hypoplastic left heart syndrome
• Tricuspid atresia

Sudden unexplained deaths of seemingly healthy children without an identifiable cause.

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. 

CT and MRI Scans
Machines capture images of your child’s overall heart structure, heart muscle function, and blood vessels.

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.

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.

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.