When Liam was born via planned C-section with no issues, his parents, Mark and Sharon, expected to take their newborn home as soon as Sharon had recovered. In the nursery, however, nurses noticed that Liam’s oxygen level was not what it should be. When they discovered he had aspirated fluid, they transferred him to the NICU for observation and placed him on oxygen. Four days later, with Liam still unable to maintain adequate oxygen levels on his own, doctors performed a chest x-ray and an echocardiogram. Though Sharon had been discharged from the hospital that day, Liam’s test results sent the parents rushing back. 

Liam was diagnosed with total anomalous pulmonary venous return (or TAPVR), which is a type of congenital (present from birth) heart disease that affects the pulmonary veins. Liam needed surgery as soon as possible; that night, the family was transferred to Children’s Hospital of Philadelphia (CHOP) for care. 

At only 6 days old, Liam underwent open heart surgery with Muhammad Nuri, MD, an attending surgeon in CHOP's Division of Cardiothoracic Surgery and the Surgical Director of the Topolewski Pediatric Heart Valve Center. 

Liam’s surgery went well. His parents and care team were amazed at his quick recovery, and the family began to prepare for discharge. 

And then Liam began to plateau.

A disturbing discovery

Over the next several weeks, Liam cycled through a series of complications and treatments that initially resulted in improvements but were then followed by plateaus. 

When Liam began to lose weight and was unable to keep food down, doctors began to suspect pulmonary vein stenosis (or PVS). PVS affects the blood vessels that deliver newly oxygenated blood from the lungs back to the heart. If these blood vessels are narrowed, the heart doesn’t receive the oxygenated blood it needs, which can cause serious complications. PVS often occurs in patients that also have CHD, and can cause issues with breathing and feeding intolerance, among other symptoms. The exact cause of PVS remains unknown. Sometimes, the condition can be present from birth. In other cases, a child can develop PVS as a complication to another heart or lung issue or after heart surgery. 

Liam underwent a cardiac catheterization with Ryan Callahan, MD, attending cardiologist and Medical Director of CHOP’s Pulmonary Vein Stenosis Program. One of the few highly experienced PVS programs in the country, CHOP’s Pulmonary Vein Stenosis Program provides expert diagnosis, individualized therapies and ongoing care to children with PVS. 

Dr. Callahan confirmed that Liam suffered from severe PVS — all four of the main pulmonary veins were extremely narrow to the point of closing altogether. Thankfully, he was able to perform a balloon dilation to fully open three of the pulmonary veins and partially open the fourth. Balloon dilation is one treatment option for PVS, which is often treated with a combination of interventions. As a child grows and the veins narrow again, repeat interventions are usually needed. 

In an effort to slow the progression of Liam’s condition and reduce the likelihood of future procedures, Dr. Callahan recommended a novel medication – typically used to treat cancer.

A surprising solution

Imatinib (Gleevac®) is a medication that targets proteins in cancer cells and stops them from growing. However, it has new applications in PVS, as it also inhibits the cells responsible for the condition and slows – or even stops – restenosis. Since the conclusion of clinical trials, the Pulmonary Vein Stenosis Program uses imatinib as part of individualized treatment plans for PVS.

“We were of course concerned about side effects,” says Sharon. “There are still a lot of unknowns.”

Adds Mark: “In terms of his options, we were clear that giving Liam the medication was his best shot.”

Fortunately, Mark and Sharon were able to administer the medication from home, though they had to return to the hospital every few weeks for an echocardiogram and a nuclear perfusion scan, which enables doctors to see how well blood is flowing through the heart muscle. 

“The scans just kept getting better and better,” says Mark. “We were planning on Liam needing future interventions, but as the time between scans stretched further and further, our outlook began to change.”

After nearly six months on imatinib, the narrowing in Liam’s veins was gone. Although there’s always the possibility that this will change in the future – and Liam will continue to be followed by cardiology — there is currently no indication that Liam will need future interventions for PVS. This makes Liam the first CHOP patient to successfully complete treatment with imatinib for PVS.

Now 18 months, Liam is “full of life, energy and curiosity.” He’s meeting all his growth and developmental milestones, and he loves to play with his big sister, Maggie. “She’s a wonderful big sister,” says Sharon. “Always looking out for her little brother and keeping him entertained!” Liam and Maggie’s parents are full of gratitude for the care Liam received at CHOP.

“There’s an amazing level of care, compassion and service,” says Mark. “The best decision we ever made was to take Liam to CHOP.”