Outliving disease

Christopher Jossick had his first open-heart surgery when he was five weeks old. Born more than a month prematurely, Jossick weighed approximately four and a half pounds, and his heart was about the size of a walnut.

Jossick, now 27 and living in Newtown, Connecticut, needed the surgery because of a rare congenital heart defect called truncus arteriosus. There are about 250 cases of this defect diagnosed in the United States each year. The aorta, a large artery that carries oxygen-rich blood to the body, and the pulmonary artery, which carries oxygen-poor blood to the lungs, do not separate completely in babies born with truncus arteriosus. Instead, the baby has a single artery leaving the heart containing both oxygen-poor and oxygen-rich blood. An abnormally high amount of blood is sent to the lungs, which makes it difficult for the baby to breathe. People born with truncus arteriosus rarely survive to adulthood without surgery within the first few months of life.

When William Hellenbrand, MD, professor emeritus of pediatrics (cardiology), started practicing medicine 50 years ago, the prognosis for someone like Jossick would not have been as good as it is now.

“Chris would have had bleak prospects; it would have been a difficult outcome,” said Hellenbrand. He joined the Yale School of Medicine faculty in 1976 and was one of Jossick’s first doctors.

In the early 1970s, the mortality rate for babies born with some complex congenital heart defects was as high as 90%. Today, that rate has dropped to about 5%. Hellenbrand said that dramatic advances in surgical techniques and the use of catheters to perform
minimally-invasive procedures that once required open-heart surgery now mean that people who once would have died in infancy or shortly after birth can live to adulthood.

Because of advancements in catheterization, doctors can replace a defective heart valve without open-heart surgery, said Britton Keeshan, MD, MPH, an assistant professor of clinical pediatrics whose specialty is cardiac catheterization for children and adults. He said that some congenital heart conditions once meant that people born with them might have as many as eight surgeries during their lives. Now, they may need only one or two. “We have converted some surgeries into catheterization procedures, which has huge downstream consequences for children and adults who are just trying to live their lives,” Keeshan said.

A device called a Melody® valve, inserted through a catheter to replace a defective pulmonary valve in the heart, has revolutionized the treatment of congenital heart defects since its introduction in the early 2000s. The Melody® valve consists of a segment of bovine jugular vein mounted inside a platinum-iridium stent. Jossick said that he had three open-heart surgeries in childhood. He was an early recipient of a Melody® valve and hopes that the new device means that he won’t need surgery again.
One person in 100 is born with a congenital heart defect, the most common birth defect, said Robert Elder, MD, associate professor of pediatrics (cardiology) and of internal medicine (cardiology). Elder is director of the Yale Adult Congenital Heart Program and one of Jossick’s doctors.

Last September, Jossick and Elder participated
in the Walk for 1 in 100 in West Hartford, one of a series of events to raise money and awareness for
the American Congenital Heart Association. Jossick raised more than $2,000, and organizers said that he was one of its top fundraisers.

Joining them for the event was Adrienne Webb, who is also one of Elder’s patients and was born with a group of four heart defects called tetralogy of Fallot. Like Jossick, the defects Webb was born with resulted in insufficient oxygen in her blood, also known as a cyanotic heart defect. As a result, she had her first open-heart surgery when she was 7 to repair a hole between the two lower chambers of her heart. At age 18, Webb had another open-heart surgery, this time to replace her pulmonary valve. In 2011, the valve was replaced with the Melody® valve.

Webb is now 59 and leads an active life. She is a project manager at Yale Law School; she enjoys hiking in Vermont and New Hampshire and horseback riding twice a week. But Webb’s experience is also a cautionary tale, Elder said. Even when surgery as a small child is successful, people with congenital heart defects will often need procedures and treatment for the rest of their lives. In 2019, Webb was diagnosed with endocarditis, an infection of the heart’s chambers and valves.

The condition was a real setback for Webb. “I was not in a good place, it was like the fire department pulled up, and the house was fully engulfed in flames,” she said. In Webb’s case, the infection attacked the pulmonary valve doctors had put in her heart in 2011. Because of this complication, she needed open-heart surgery to replace the valve for the third time and
was in the hospital for a month, followed by a cardiac rehabilitation program. “I slowly worked my way
back, but now I’m doing all of my normal activities,” Webb said.

As with any other chronic health problem, heart patients have a role to play to ensure that they get the most benefit from advances in medical technology. For example, seeing a specialist who treats congenital heart defects in adults is crucial, even if you feel fine. Doing so, Elder said, can uncover a problem before it gets out of hand. “Dr. Elder is exactly right. It’s important for people like us to stay in care because we have lifelong, complex issues,” Webb said.

Ken Byron is a frequent contibutor to Yale Medicine Magazine.