Leonardo Nobile entered the world last month in perilous condition.
Luckily for him, his parents and doctors were prepared.
Leonardo, his head covered with black hair, emerged by cesarean section in an operating room at Children's Hospital of Philadelphia, briefly met his overwhelmed parents, and rode in anesthesiologist Lisa Montenegro's arms to a nearby catheterization lab. There, a swarm of medical staff began prepping their six-pound patient for the first of two procedures to protect his brain and repair his defective heart.
The first, done in the hour after his birth, improves blood-oxygen levels for babies like Leonardo. He had a rare defect in which the aorta and pulmonary artery become attached to the wrong ventricles, depriving blood of oxygen. Without surgery, such babies die.
Four days later, a surgical team switched Leonardo's arteries to their proper positions.
Doctors at Children's have done the two procedures for decades. The first, known as a balloon septostomy, was created in the 1970s by Children's physician William Rashkind.
In the last several years, Children's has tried to make care more efficient by identifying high-risk babies in the womb and assuring immediate intervention after birth. Each year, Children's treats 30 to 40 babies with Leonardo's condition.
Jack Rychik, Leonardo's pediatric cardiologist, called the new program IMPACT (Immediate Postpartum Access to Cardiac Therapy). While data on its effectiveness still are being analyzed, Rychik said it made sense that giving care quickly would improve outcomes.
"I'm not sure we need a randomized trial for that," he said.
Leonardo's mother, Graziella Nobile, 30, of Brick, N.J., was featured recently in an Inquirer article about Children's efforts to prevent cognitive problems in babies with heart defects. The brain is a big oxygen-user, so blood-circulation problems can deprive it of needed fuel. Nobile participated in a clinical trial testing whether the hormone progesterone helps.
Surgical outcomes are best when the artery switch is done one to four days after birth, Rychik said. Many babies are OK for a while because the foramen ovale, a hole between heart chambers, allows oxygenated and blue, or depleted, blood to mix. In most babies, it closes within a few weeks, but prenatal tests showed that Leonardo's foramen ovale was already too small.
"We know these babies are going to be extremely blue when they're born, and the clock is ticking," Rychik said. "Every hour, every minute could be an IQ point."
Wayne Tworetzky, a pediatric cardiologist at Boston Children's Hospital, agreed that quick intervention was better. Unlike at Children's in Philadelphia, which delivers such high-risk babies right on site, the Boston hospital is connected by a bridge to the adjacent obstetric hospital next door.
The bigger issue for Tworetzky is that transposition of the great arteries is detected prenatally in only 41 percent of cases, greatly upping the odds that babies will get very sick before doctors can help. He and Rychik both hope greater awareness of the importance of early detection will improve ultrasound screening.
Graziella Nobile knows how fortunate it was that an alert ultrasound technician caught Leonardo's defect, even though the news was "devastating, heartbreaking, the worst thing ever."
Things moved so fast the day she went into labor, she barely had time to worry. She thought her baby might be so sick that she wouldn't get to see him at all before he was hurried away. "I was preparing myself for the baby to be extremely blue," she said. "I couldn't believe how good he looked."
During Leonardo's septostomy, interventional cardiologist Matthew Gillespie threaded a catheter about the diameter of thin spaghetti into Leonardo's top left atrium. He tapped against the foramen ovale, which is closed with a trap-door-like structure. Once on the other side, he inflated a balloon to about 5 mm and yanked it through the paper-thin tissue, tearing the trap door off its hinges.
Leonardo's mother was still in her own operating room when Gillespie came to tell her the procedure had gone well.
Rychik said doctors would have to keep an eye on Leonardo's heart valves and blood vessels as he grows. Still, he said, "the prognosis for Leonardo is superb."