Tetralogy of Fallot (TOF): Mac's Story

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Mac, 17, has a complicated medical history and has had a number of surgeries, including several to repair a congenital heart defect called Tetralogy of Fallot. After becoming the first patient in the Philadelphia region to receive an innovative replacement heart valve, he is enjoying life - and making music. 

Mac Tetratology of Fallot Patient When Mac was born, his parents noticed something unusual: His skin had a distinctive bluish tint - a symptom that can indicate a serious heart problem.

Shortly afterward, Mac was diagnosed with VACTERL association, a rare condition that affects children in different ways. Mac, for example, was born with only one kidney; he also has limb abnormalities and a congenital heart defect called tetralogy of Fallot (TOF).

Tetralogy of Fallot (TOF) refers to a combination of heart defects, including a ventricular septal defect, a hole between the lower chambers of the heart; overriding aorta, when the aorta is on top of both ventricles instead of just the left ventricle, as in a normal heart; pulmonary stenosis, a narrowing of the pulmonary valve that affects blood flow from the heart to the lungs; and hypertrophy, when the right ventricle becomes thicker and more muscular than normal as a result of working harder to pump blood through the narrow pulmonary valve.

Lifelong cardiac care

When he was 2 months old, Mac had a procedure to help increase his pulmonary blood flow. And when he was 10 months old, he had open-heart surgery to repair his heart. When he was two months old, Mac had his first surgery, a temporary repair. The temporary repair involves connecting the pulmonary arteries (which carry blood from heart to lungs) with one of the large arteries that carry blood away from the heart to the body. This increases the amount of blood that reaches the lungs, and so increases the amount of oxygen in the blood. At ten months old, he had a complete repair. 

When Mac was growing up, Stacey and her husband, Glen, took him to see a local cardiologist near their home in Brielle, NJ, for regular checkups. And despite Mac's health challenges, he had a happy childhood.

But in 2015, Mac told his mom that his heart "didn't feel right," and his parents took him to a hospital near their home. One of the doctors who examined him suspected something was seriously wrong - and told his parents to take him to CHOP.

At CHOP, pediatric cardiologist Victoria Vetter, MD, examined Mac and ordered an MRI, which showed that his heart was dangerously enlarged.

Like many patients with TOF, Mac had developed pulmonary valve regurgitation, meaning blood was leaking backward in his heart and affecting its ability to pump blood through his body. The condition can lead to heart failure.

Innovative treatment

In the past, Mac's only option would have been open-heart surgery to replace the leaky valve. But Dr. Vetter referred Mac to interventional cardiologist Matthew J. Gillespie, MD, who had a new, much less invasive option to offer: the Harmony Transcatheter Pulmonary Valve (TPV), a finger-sized, polyester-covered metal frame that is placed in the heart using a catheter inserted through a vein in the groin.

Dr. Gillespie helped to test the Harmony valve in preclinical studies and is helping to lead the national clinical trial of the device. When he mentioned it to Mac's family, they were thrilled. It meant Mac wouldn't need another open-heart surgery.

"It was such a gift to hear that they can do it without open-heart surgery," says Stacey. "Dr. Gillespie explained it thoroughly so that we understood everything. It was an 'a-ha' moment - we thought, 'This is going to be better than we could have ever even imagined.'"

A first at CHOP

Mac's medical team created a 3-D model of his heart to help them prepare for and plan the procedure, and in April 2017, Mac became the first patient at CHOP to receive a Harmony TPV. He went home the next day.

"It was the greatest thing we've ever done," says Stacey. "It couldn't have gone better."

"I felt like a million dollars right away," adds Mac.

The procedure was also a breakthrough for Dr. Gillespie, who believes it will make a big difference for many children with TOF:

This is really going to change the way we're managing these patients.

Mac today

The Harmony TPV has changed Mac's life for the better. Now 17, he comes to CHOP every six months or so for checkups with Dr. Gillespie and Dr. Vetter, and he hasn't had any complications.

He loves music - he's a drummer in a rock band - and he also enjoys hanging out with his friends and exercising.

"I can run really well now," he says. "The other day I was having a race with my friends. They were all out of breath - and I wasn't."

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