Cardiac Genetics and Aortopathy Program

About the Cardiac Genetics and Aortopathy Program

Knowing everything we can about your child’s health helps us give them the best and most complete care. Cardiac genetics is helping us redefine how we approach the diagnosis and treatment of children with cardiac conditions by giving us a complete picture of your child’s heart condition. The Cardiac Genetics and Aortopathy Program at Children’s Hospital Colorado sheds light on complex cardiac conditions and aortopathy (aortic diseases) and provides a wholistic view of genetic conditions so we can treat your child, and not just their heart condition. Knowing what underlying genetic conditions are causing heart problems enables us to provide proactive treatments and anticipate what your child will need as they grow.

Who we treat at the Cardiac Genetics and Aortopathy Program

We recommend cardiac genetic testing for children with a personal or family history of congenital (present at birth) heart disease. This helps us determine appropriate care and assess risk for other family members. Cardiac genetic conditions we treat include:

• 2 deletion syndrome (also called DiGeorge syndrome and velo cardio facial syndrome)
• Familial thoracic aortic aneurysm and dissection (TAAD)
• Hereditary hemorrhagic telangiectasia (also called Osler-Weber-Rendu disease)
• Inherited types of congenital heart disease (CHD)
• Marfan syndrome and related aortopathy conditions (conditions that weaken the aorta, also referred to as connective tissue disorders)
• Noonan syndrome and other RASopathies
• Turner syndrome
• Williams syndrome

Our team works with other cardiologists (pediatric electrophysiologists, cardiomyopathy specialists and others) to coordinate genetic testing and family screening for patients with:

• Genetic forms of arrhythmia
• Genetic forms of cardiomyopathy
• Genetic analysis for pulmonary hypertension

Who are the most likely candidates for this program?

Any infant, child or family who doctors suspect has one of these conditions is a candidate for this program. We assume primary cardiac care and management for patients with these conditions in most cases. We also provide a consultative service for children who already have a cardiologist, adding depth to the care team but not leading care for patients who are already receiving care.

Why choose us for cardiac genetic care

There are many cardiac genetic disorders, and they can affect the heart in different ways, as well as other organs in the body. Once we diagnose the genetic disorder, we can start to fully understand the extent of how the condition affects the systems of the body. Our cardiac geneticists, cardiac genetic counselors and other experts have the training and experience to diagnose and treat all these conditions. They also work across our organization with other leading specialists to provide coordinated care when other body systems are involved.

In our program, your child will benefit from the expertise of dual-certified cardiologists and geneticists and genetic counselors who are leading this exciting field and leveraging precision medicine to improve care. By integrating genetics into pediatric cardiology, we take the next step in understanding your child’s unique genetic condition, which many children’s hospitals can’t do. This information helps us find the right treatments and understand what other specialists your child should see to get the best treatment.

See how our cardiac genetic care helps families seeking answers

Contact the Cardiac Genetics Program

For more information about the Cardiac Genetics and Aortopathy Program, please call us at 720-777-6820.