For children and families with inherited heart disease or other genetic conditions that are often associated with heart defects, we provide comprehensive diagnosis and treatment planning in the Pediatric Cardio-Genetics Clinic.

Patients can see both our cardiologist and genetics specialist at the same appointment in our dedicated clinic. The cardiologist and genetics specialist work together on a treatment plan that meets our patients’ needs.

For children who have symptoms of a genetic abnormality but may have previously tested negative, we often provide additional testing. Testing capabilities are continually evolving, and our state-of-the-art genetic testing capabilities provide patients with a high level of sensitivity and accuracy, while providing results more rapidly.

This includes chromosome microarray, to determine if missing or extra chromosomes are causing a medical condition; and next generation sequencing panels or whole exome sequencing, which are types of testing that allow us to detect genetic variants that may be causing a medical condition. Our team will recommend the type of testing that best meets your child’s needs.

We see most patients in the clinic every six months to one year and will work with you and your child’s providers to plan the appropriate interval for tests, screening, and treatments, depending on their condition.

We also monitor your child’s developmental milestones and can connect families to other specialists such as neuropsychology or other resources as needed.

For women with conditions or a family history that may put them at-risk for having a baby born with a heart condition, we also provide genetic testing and counseling related to pregnancy.

Some of the conditions we treat in the clinic include:

• Congenital heart disease
• Cardiomyopathy
• Arrhythmias
• Connective tissue disorders such as Marfan, Ehlers-Danlos, and Loeys-Dietz syndromes

What to Expect

Patients are seen by Melissa Crenshaw, M.D., medical director of the clinical genetics program and an expert in the genetics of congenital heart disease, and Marguerite Crawford, M.D., pediatric cardiologist. Your child will be recommended for genetic testing, such as chromosomal, metabolic or DNA testing, and echocardiography and EKG testing to review your child’s heart health as needed. DNA and chromosomal testing require insurance approval. Samples will then be taken at the lab. Results are typically returned within several weeks of your child’s initial visit.

Once results are received, we will review the results with you and review recommendations for your child’s treatment. We coordinate directly with your child’s primary physician or other specialists throughout your child’s care.