Peter J. Gruber, MD, PhD, is a pediatric cardiothoracic surgeon who treats patients from infancy—in some cases before they are born—to adults. He specializes in complex congenital heart disease, also known as structural heart disease, and performs a wide spectrum of procedures and complex surgeries, including pediatric heart transplant.
“Congenital heart diseases can be pretty scary because it’s your heart, and because the situation can turn serious very quickly,” Dr. Gruber says. “Some people want to know all the details. Other people find details just scare them. So, I read what the family or what the children want to know, and then try to communicate with them in whatever way is appropriate in that particular situation.”
“When a congenital heart problem is identified early, in one way or another, it may not be curable, but it’s usually treatable,” he says. “The overall mortality rate for those who have surgery is less than 1 percent, and patients who have surgery usually go on to enjoy a good quality of life.” Dr. Gruber works with a team of cardiologists and other specialists to determine the best approach for each patient.
A professor of surgery at Yale School of Medicine, Dr. Gruber has training as a developmental biologist and a geneticist, and he has a special interest in the molecular underpinnings of congenital heart disease. This work has impacted his work in the clinic as well. He had a patient with Wolff-Parkinson-White syndrome, characterized by abnormal electrical pathways in the heart, who needed a complex reconstruction inside of her heart. After the surgery, she developed an unusual irregular heartbeat, and she told Dr. Gruber that other members of her family had experienced the same thing. So, his research group sequenced and examined their DNA. “We identified a gene that was newly associated with this disease, all based on the generosity of the patient and their family,” he says. Committed to innovation, he said, “the research today is the clinical care of tomorrow.”
“Overall, it’s a highly rewarding combination of taking care of kids with lethal diseases, giving them a shot at a normal life. Figuring out how it happened is icing on the cake.”