Genetics Team Looks for Clues to Ensure the Best Care for CHD

Because it is possible to identify an underlying genetic cause in up to a quarter of children with CHD, the Genetics team at Sibley Heart Center Cardiology is dedicated to identifying and monitoring these conditions in children and providing educational support and guidance for families.

Stephanie Burns Wechsler, MD, is a Sibley pediatric cardiologist who is also board certified and trained in medical genetics. She splits her time between the Cardiac Acute Care Unit at Egleston, Sibley outpatient clinics and Emory University Hospital.  She is an attending physician at the Aorta and Vascular program at Sibley. Genetic connective tissue conditions like Marfan Syndrome, and chromosomal diseases, like Turner syndrome, which can be associated with an enlargement of the aorta, are addressed in that clinic. But even structural congenital heart disease can have a genetic component.

“We are involved at the beginning of a family’s journey of learning their child has a particular genetic syndrome,” Dr. Wechsler said. “We’re here to help families understand the condition and sometimes to arrange testing and genetic counseling for other members of the family.”

Questions that parents typically ask include, “Where did this come from? What about my other children? What do we need to know if we plan to have more kids?”

“Parents can feel a lot of guilt if their child’s condition is inherited,” Dr. Wechsler said. “They often wonder if they did something wrong. Our genetics team, including our genetics counselors, is here not only to provide the specific medical information they need to know, but also to help them put the diagnosis in context and adjust to it.”

Most infants with congenital heart disease admitted to the hospital after birth are offered a Chromosomal Microarray Analysis, which can detect certain genetic syndromes via a blood test. Children’s Healthcare of Atlanta is part of a national consortium study to help doctors better understand the genetic changes detected by microarray and how they impact CHD patients.

“While the microarray analysis may get lost in the shuffle of an initial CHD diagnosis and hospitalization, it’s good to know about this test so parents can ask if it’s been done or if it can be done, and what the results may be,” Dr. Wechsler said. “It may allow them to make more informed decisions about their child’s care.”

An initial appointment in a genetics clinic is longer than a typical doctor’s appointment, as the doctors and counselors create a detailed family tree, ask many questions and conduct a thorough physical exam.

We are on a fact-finding mission, looking for clues to help us understand the cause of clinical features,” Dr. Wechsler said. “When we make a specific genetic diagnosis, this helps families and doctors know what to look for and how to provide the best care for the child.”

For more information about Sibley Heart Center Cardiology and our pediatric cardiology specialists, click here.