Tetralogy of Fallot: Casey’s Story

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When Casey’s mom Jane was pregnant, she was warned that Casey had some indicators of Down syndrome, but the technology of the time couldn’t confirm the diagnosis. So, when Casey was born without the condition, Jane was relieved. But her relief didn't last long.

Casey “They took him to do the standard newborn screenings, and they weren’t bringing him back,” Jane recalls. Eventually, a doctor told Jane that Casey wasn’t getting enough oxygen. The doctor rattled off possible causes ranging from an infection to a heart defect. The next morning, after more tests, a pediatric cardiologist confirmed Casey had tetralogy of Fallot (TOF).

Tetralogy of fallot (TOF)

TOF is a condition with four distinct defects in the structure of the heart: a ventricular septal defect (a hole in the lower chambers of the heart), an overriding aorta, pulmonary stenosis, and right ventricle hypertrophy. TOF limits the heart’s ability to pump oxygenated blood to the other organs.

The doctor told Jane TOF was treatable and she should expect Casey to have surgery in about six months. This would give Casey time to gain weight and strength prior to surgery. That night, Jane held her baby for the first time. “I hadn’t even seen him since he was born. After getting the diagnosis, I was almost afraid to bond with him. But when I picked him up, he put his little head in the crook of my neck and I just melted.”

The next day, Casey took a turn for the worse: Likely due to the lack of oxygen, part of his intestines had died, a condition known as necrotizing enterocolitis. Twelve inches of Casey’s colon had to be removed, and he received an ostomy bag to collect his waste. Three weeks later, Casey went home for the first time.

Urgent surgery required

Casey was home but was still not completely stable. At 2½ months old, he experienced a serious “tet spell,” a common TOF complication in which oxygen levels drop. Casey turned blue and lost consciousness. A local hospital stabilized him and then flew him to Children's Hospital of Philadelphia’s (CHOP) Cardiac Center. Because Casey was struggling so much, doctors recommended doing the TOF repair surgery right away — his heart simply couldn’t wait six months.

“He was actually scheduled for surgery at a different hospital, but because he was so sick and CHOP was closer, we went there,” Jane recalls. “We are grateful we ended up at CHOP because they worked miracles with him. We always landed at CHOP in the worst crises, when you’re so vulnerable you have no choice but to trust someone to help you. But they always earned that trust.”

The TOF surgery repaired the hole between the chambers of Casey’s heart, widened his pulmonary artery and removed tissue that was impeding function of his pulmonary valve. Next, Casey had surgery to close his ostomy. In the following months, he developed chronic fluid around his heart, and he wasn’t gaining weight — at 9 months old, he was still at his birth weight.

Casey had a pericardial window — essentially a drain for the fluid around his heart —performed at CHOP. Then a CHOP allergist realized Casey’s failure to grow wasn’t due to TOF. Casey had severe allergies to milk, soy and other proteins; those symptoms had been masked by his other conditions. “That allergist basically saved his life,” says Jane.

After switching to an allergen-free formula and addressing the fluid around his heart, Casey thrived. His ostomy was closed, and his health was excellent. “That first year he dealt with so many life-threatening issues, but after that it was totally smooth sailing,” Jane recalls.

Harmony valve replacement

Casey continued to have “all-clear” annual checkups for the next 17 years. Then his local cardiologist said it was time to think about a pulmonary valve replacement. It wasn’t an emergency; Casey was still healthy.

When patients have their TOF repaired using transannular patches (as Casey's was), they do not have normal, functioning pulmonary valves. Over time, the patches begin to deteriorate. In Casey's case the leaking valve was starting to dilate his right ventricle, which led his medical team at CHOP to recommend a pulmonary valve replacement.

The news was a surprise to Casey. He’d heard about his difficult first year of life, but Jane says, “They were just stories to him because his heart condition never limited him. When he found out he needed a valve replacement, it was rough. He was just getting ready to go out and tackle the world. This put everything on hold.”

There were medical challenges to address as well. To avoid another open-heart surgery, Casey’s doctor, Matthew Gillespie, MD, Medical Director of the Cardiac Catheterization Laboratory at CHOP, wanted to use a catheter to place the new valve. But using a catheter required a valve precisely the right size — and after starting a procedure to implant a new valve, doctors discovered it was much too small. In fact, all the valves on the market were too small to fit Casey. “It was disappointing,” Casey acknowledges. “We went through the whole process and then found out [the valve] didn't fit. CHOP kept in touch with us, but in the meantime, all we could do was sit and wait.”

But CHOP’s research team wasn’t just waiting. During the procedure, they had taken precise measurements of Casey’s internal anatomy and used that to create a 3D model of his heart.

After more than two years, Dr. Gillepsie’s team contacted Casey with a potential solution. Medtronic had a new size for its HarmonyTM Transcatheter Pulmonary Valve. The self-expanding valve device hadn’t received FDA approval at the time — it was still in clinical trials. If Casey agreed to try it, he would be the first human recipient of the new device at CHOP.

A big decision

Casey had mixed feelings about being the first to receive the valve. “It made me a little nervous: What if I reject it? But I was excited, too. It’s kind of a big deal,” he recalls laughing.

Jane had more concerns: “I was scared to trust in this,” she says. “I had to look at it objectively: It’s the same result, but without the invasive surgery. So, what do we have to lose by trying this?”

She came around in part because of the information she received from Dr. Gillepsie and his team. “They were wonderful,” she says.

They explained everything thoroughly, and I could be confident because they were so confident. I could feel the dedication of this research team and Dr. Gillespie.

With everyone on board, Casey received his Harmony valve. He stayed in the hospital one night for observation and recovered at home for a week with no serious complications.

Casey today

Six months post-op, Casey says he has more energy. Thanks to the new valve, his heart doesn’t have to work as hard. Even better, his mild heart enlargement is already subsiding.

Casey’s follow-up care is minimal: He must take aspirin to prevent clots from forming on the valve, see a cardiologist twice a year for checkups, and in 8-10 years he’ll likely need a replacement for this valve. Otherwise, he’s like any other young man ready to make his way in the world.

“Now that this is done, he has finally been able to relax,” notes Jane. “He doesn't have it hanging over him, and the anxiety is gone. I’m looking forward to him being able to start his life as a man, for him to feel that he can do anything anyone else can do — because he can.”

Since the time of publication, the Harmony™ Transcatheter Pulmonary Valve (TPV) has been approved by the FDA. Learn more about what this means for patients like Casey with congenital heart disease.

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