They're the kind of stories that make headlines: A seemingly healthy teenager dies suddenly at soccer practice. Out of nowhere, an 8-year-old goes into cardiac arrest while playing with friends. The culprit: an undiagnosed heart defect.
These stories make headlines precisely because the events are so rare. But coronary artery anomalies, which are among the heart defects that place children at risk for sudden cardiac death, are turning out to be much more common than doctors once believed.
How do you treat a potentially life-threatening condition no one fully understands? That’s the challenge for CHOP’s new Coronary Anomaly Management Program (CAMP), which brings together experts from many different disciplines — including cardiology, surgery, research, echocardiography and electrophysiology — to focus on solving the many mysteries surrounding coronary artery anomalies and caring for children who have them.
Discovering Anthony's heart anomaly
Four-year-old Anthony Guiga is one of those children. Two years ago, his parents took him to the ER at a hospital near their home in West Chester, PA, because he was having trouble breathing.
While his symptoms turned out to be caused by a bad case of croup, an echocardiogram performed during a follow-up visit with pediatric cardiologist Mohamed Seliem, MD, at CHOP’s Specialty Care Center in King of Prussia showed something astonishing: One of Anthony’s coronary arteries was attached to his aorta in the wrong place — a heart defect called anomalous aortic origin of a coronary artery (AAOCA).
“We were shocked and surprised and scared at the same time,” says his mom, Suzanne. They were also very lucky.
Though Anthony’s risk for cardiac arrest is thought to be very low, children with other forms of AAOCA are known to be at increased risk for sudden cardiac death — especially if they play competitive sports. And all too often, these children show no symptoms and are not diagnosed until after they’ve suffered a cardiac arrest.
Weighing a patient's risk level
For some children with heart defects, the care plan is clear: more tests, close monitoring, maybe surgery. But for children with AAOCA, the path forward is less certain. There are no established guidelines for how to treat these children — something Julie Brothers, MD, a leading expert on coronary artery anomalies and medical director of CAMP, is determined to change.
“Our biggest issue is understanding each patient’s true level of risk,” she says. “Which kids, symptoms or no symptoms, are going to be fine even if they’re out there doing competitive sports for the rest of their lives, and which are those rare kids who are going to have an event?”
These are the questions that drive Dr. Brothers’ research. With funding from a variety of sources — including Anthony’s Heroes for Hearts, a foundation the Guigas established in May 2014 — she is developing evidence-based standards of care for coronary artery anomalies and looking for better ways to determine an affected patient’s true risk for cardiac arrest.
In 2009, Dr. Brothers helped to establish a registry that currently includes data on more than 330 patients, and she is exploring ways to improve some of the tests that clinicians use to guide their treatment decisions — because those decisions have a tremendous impact on patients’ lives. For instance, some children with coronary artery anomalies need surgery, but for most, the risks of surgery are much greater than the potential benefits. Others aren’t permitted to participate in competitive athletics.
At every turn, the members of the CAMP team, who meet at least monthly to discuss each patient’s care, are engaged in a delicate balancing act: They want to keep kids as safe as possible, while still giving them the chance to enjoy a happy childhood that includes sports and other activities.
Care and long-term monitoring
Anthony Guiga, for one, is living a totally normal, joyful life. He comes to CHOP regularly for follow-up and monitoring, but because he is so young — and his risk is so low — his doctors haven’t placed any restrictions on the types of activities he can enjoy.
“It’s not scary yet,” says his mom of his diagnosis, “but when he’s a teenager and running around more, it will be a different story.”
The Guigas are deeply grateful for the care Anthony receives at CHOP — and for the team’s ongoing search for answers about his condition.
Says Dr. Brothers: “Hopefully, by the time he’s 14, we’ll know more.”
— Jessa Stephens