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In August, George Lui, MD, gave the Stone family of Aptos news that none of them, including Lui himself, had expected.

Brooke Stone, 27, had spent the day undergoing rigorous evaluation of her heart function. Now, Lui, medical director of the Adult Congenital Heart Program at Stanford, a collaboration between Lucile Packard Children’s Hospital Stanford and Stanford Health Care, joined Brooke and her parents, Barb and George, in the clinic room.

“It’s always scary going in for a check-up, because in the past they always found something new,” says Brooke. “So we were really nervous this time, too.”

But this time was different. Lui, who is also clinical assistant professor of cardiovascular medicine and pediatric cardiology at Stanford University School of Medicine, sat down quietly. “He looked at us and said, ‘Everything is really good. Your heart function is in the normal range. We’re very excited about this.’ My parents and I were speechless, very emotional, and I think he was, too,” says Brooke. “It was amazing. I don’t think my heart function has ever been normal in my life.”

Three years earlier, in September 2012, Brooke had undergone a high-risk, life-saving surgery that was only being done at Lucile Packard Children’s Hospital Stanford, only for a small set of carefully evaluated, medically eligible patients, and only by Frank Hanley, MD, executive director of the Children’s Heart Center at Lucile Packard Children’s Hospital Stanford and professor of cardiothoracic surgery at Stanford. The surgery involved performing an arterial switch procedure in addition to undoing a previous life-saving but non-curative operation that had been done when Brooke was a newborn. It was Brooke’s only hope.

Brooke was born in 1988 with transposition of the great arteries (TGA), a congenital heart defect in which the two main arteries that carry blood away from the heart—the pulmonary artery and aorta—are connected to the wrong pumping chambers of the heart, causing the blood to flow improperly. When Brooke was a newborn at the University of California, San Francisco, a team including Hanley—who was a young surgical fellow there at the time—had performed a complex operation that stabilized her and allowed her to grow and develop, but did not cure her. That surgery, called a Senning procedure, was the most trusted procedure for TGA at the time. Because it wasn’t a cure, doctors made sure Brooke’s parents understood that she would not have a normal life span or quality of life.

Barb Stone was a fierce advocate for her daughter, continuing her follow-up care and cardiac monitoring while searching for innovations in treatment. “I looked everywhere,” says Barb, “from Denver to Germany. I would have taken Brooke anywhere.”

Ultimately, there was only one place for Brooke: Lucile Packard Children’s Hospital Stanford, where Hanley was, by then, the only surgeon in the U.S. still doing the arterial switch for patients like Brooke who met his strict medical criteria.

Brooke qualified for the surgery not only because of the unique details of her heart’s anatomy, but also because she had been carefully monitored by a cardiologist her entire life. These annual visits ensured that any deterioration in her heart function could be caught and medically managed before she experienced heart failure, and that she would be healthy enough for surgery when the time came. Many patients already in heart failure may be too vulnerable for the lifesaving intervention they need.

Eight months after her 2012 arterial switch and Senning takedown, Hanley performed a third successful surgery to replace Brooke’s aortic valve because of residual aortic regurgitation after the arterial switch. Today, Brooke is a healthy 27-year-old with a career in veterinary care, making time for exercise and hula hooping, spending time with her boyfriend of 10 years, and, she says, “just enjoying a normal life for a change.”

Yet, even now, empowered by the good news that her heart is functioning in the normal range, Brooke has already scheduled a follow-up visit to confirm the results with further testing, and will continue her annual heart check-ups.

Growing Up With Heart Disease 

Today, according to the American Heart Association, 1.3 million adults and one million children are living with congenital heart disease (CHD) in the U.S. Each year about 40,000 children are born with CHD, about half of whom survive into adulthood. But surviving into adulthood doesn’t happen by chance. For all people born with CHD, like Brooke, knowing that their heart is never “cured” could be, paradoxically, the very thing that saves their lives.

“Many parents of children with CHD don’t recognize that their kids need lifelong cardiac care,” says Susan Fernandes, LPD, PA-C, program director of the Adult Congenital Heart Program at Stanford, and lead author of a 2011 study on the topic. “It is estimated that more than 50 percent of adults with CHD are not receiving specialized, adult congenital cardiac care or are lost to follow-up, most falling out of appropriate care before mid-adolescence.”

A cardiologist specializing in adult congenital heart disease is the best choice because a primary care doctor may not know about the potential complications of a CHD condition, and adult cardiologists are more experienced with heart diseases that are acquired later in life, which are very different than the heart conditions present at birth. The heart of a person with CHD may be weakening (heart failure) and experiencing potentially lethal, abnormal rhythms, known as arrhythmias, without any outward signs or symptoms.

This unseen risk points to the need for a lifetime of specialized monitoring, which can include annual echocardiograms, cardiac catheterizations, and advanced imaging such as MRI or cardiac CT, and perhaps additional surgeries in the future. This lifespan approach, along with bold advances in treatment, has helped more children with CHD do what was once unimaginable: thrive far into adulthood.

In the Adult Congenital Heart Program at Lucile Packard Children’s Hospital Stanford, lifespan care means just that. “You’re born here at our hospital with a congenital heart defect, you get your heart surgery here; our cardiologists and nurses follow you through your adolescent years, teach you how to advocate for your health, and educate you about how to become an adult with CHD. Then we introduce you and transfer you to an adult practitioner at Stanford Health Care, and then, if you want to get pregnant, we support you through pregnancy and deliver your baby at Lucile Packard Children’s Hospital Stanford. Then, when you’re 40 and you need heart surgery again, we do your heart surgery,” says Lui. “So, working closely together across both hospitals, we are your family that takes care of you from zero to 100.”

By zero, Lui is referring to the comprehensive screening, diagnosis, and care patients get at Lucile Packard Children’s Hospital Stanford before they’re even born. “We encourage all of our patients to understand the impact that their CHD has on their future offspring,” says Fernandes. “We offer genetic counseling and all of our pregnant patients have a fetal echocardiogram to look for CHD in the fetus during pregnancy.” 

Theresa Tacy, MD, director of the fetal cardiology program and echocardiography laboratory at Lucile Packard Children’s Hospital Stanford and associate professor of pediatrics at Stanford, coordinates care for fetuses who are at risk for or diagnosed with a congenital heart defect—whether or not the mother has CHD.

“We diagnose fetuses with heart disease,” says Tacy. “Just as important, we counsel families and develop a very close bond with them so that they fully understand all of their options and what lies ahead.” Tacy’s team also draws together multidisciplinary teams to plan and prepare for the baby’s high-risk birth. “By the time the baby arrives, we’ve already prepared for everything and know exactly what the baby will need.”

Pregnant women are referred to the fetal cardiology service when a routine ultrasound shows an abnormality in the fetus’ heart. Others are referred for a careful screening when their preexisting health condition—such as CHD in the mother or father, maternal diabetes, obesity, or lupus—is associated with increased risk of fetal heart defects or dysfunction.

Some of the most complex congenital heart conditions cannot be treated before birth, which is why Tacy’s team works closely with the Maternal-Fetal Medicine team at Lucile Packard Children’s Hospital Stanford, ensuring counseling, coordination, and the safest possible delivery for high-risk births. Helping fragile newborns with complex heart conditions live past their first days and weeks is a job for a diverse collection of specialists, and can involve medication, surgery, and more often a combination of the two. As they grow, these children will also need a lifetime of monitoring.

Filling the Gap of Care for Adults 

The careful monitoring that ensured Brooke’s good health and paved the way for her second life-saving surgery is, tragically, not the norm. Christy Sillman, RN, who works as the nurse coordinator for the Adult Congenital Heart Program, was born in 1980 with tetralogy of Fallot with pulmonary atresia—a life-threatening condition that includes several defects of the heart, including the absence of the vessel that carries blood from the heart to the lungs. She survived infancy by the placement of a shunt, followed by several more treatments and surgeries through her adolescence.

She had surgery for a leaky heart valve when she was 17—a surgery again performed by Hanley—and a year later her pediatric cardiologist sent her on her way with a clean bill of health and the instruction that she never needed to see a cardiologist again.

“He told me to have a nice life,” Sillman recalls.

But 10 years later, when Sillman was married and in her second trimester of pregnancy, she started having arrhythmias. Though she was stabilized and able to give birth to a healthy son, she found herself in a far worse situation two months later. Sillman was found to have cardiomyopathy, a disease of the heart muscle, and was diagnosed with heart failure. Thankfully, medication and exercise were successful treatments. Sillman now gets regular monitoring of her heart.

Today, in her nursing role at Lucile Packard Children’s Hospital Stanford, Sillman has turned the danger of that experience into a benefit for her patients—and she’s a favorite among them. “Many times my patients come in and say, ‘Can I see Christy?’” says Lui. “It just shows the connection that Christy brings to them about their experience.”

Sillman sees her advantage both ways. “Not only do I help the patients, but I help the providers as well,” she says. “They might ask me, ‘I have to deliver some bad news and I was going to say this. What do you think?’ I can provide perspective from my experience as a patient. And as a provider, I can ask if they’d like me to be in the room for the discussion. I straddle both lines, patient and provider.”

To Sillman, one of the unique advantages to our Adult Congenital Heart Program is the physical connection between the children’s and adult hospitals. As Sillman sees it, that physical connection also represents the deep connection and collaboration between the adult and pediatric congenital heart disease expertise. “We are truly made up of both institutions and seek consultation from both sides,” says Sillman. “That’s really the unique edge that our program has, that sets us apart from all others.”

That connection is part of the breadth of care that the Adult Congenital Heart Program provides, with a diverse team that spans pediatric and adult care and includes surgeons, adult congenital cardiologists, fetal cardiac specialists, advanced practice providers, nurses, social workers, and psychologists.

At the other end of the lifespan spectrum, care teams in the Adult Congenital Heart Program have also studied patients with CHD for their risk of acquired heart disease—the leading cause of death worldwide, including conditions such as coronary artery disease, stroke, and peripheral vascular disease. “In the past we didn’t think patients with adult congenital heart disease would live long enough to be at risk for these conditions,” says Fernandes. “Our study showed that we need to start educating medical providers to start screening adult congenital heart patients for these risk factors, and taking steps to reduce their risks.”

As our care teams and medical researchers successfully help more and more newborns survive infancy, childhood, and adolescence, one additional challenge remains: will there be enough cardiologists specializing in adult congenital heart disease to care for them?

“Because this is a relatively new subspecialty, there are currently just 16 institutions in the United States who train these individuals in medical fellowship programs, including Stanford University School of Medicine,” says Lui. There are more than 1,000 pediatric cardiologists for 1 million kids with CHD, and only a little more than 100 trained adult congenital heart disease specialists for 1.3 million adults. Most of the institutions train only one or two specialists in adult congenital heart disease each year, or in some cases, every other year.

“This means that less than 15 individuals are being trained every year,” Lui notes. “That’s a problem when you have more than a million of these patients in the U.S., with an estimated 20,000 new patients with CHD graduating into adult care every year.”

Thanks to the Adult Congenital Heart Association (ACHA) Actelion Fellowship Award and support from generous donors, Lucile Packard Children’s Hospital Stanford has funding to provide a two-year fellowship for a single fellow every other year in adult congenital heart disease. Our first fellow, Christiane Haeffele, MD, will complete the program in spring 2016. “With more funding,” says Lui, “We could increase this training to one fellow every year.”

Our Adult Congenital Heart Program has also been recently chosen as one of only five pilots sites in the U.S. for Adult Congenital Heart Disease program accreditation by the Adult Congenital Heart Association, as a model to achieve consistency of care and inclusion for patients and practitioners. In May 2016, the ACHA will open the accreditation process to the entire country.

And that training is essential for every patient with CHD, like Brooke Stone and Christy Sillman, whose lives depend not only on life-saving surgeries and medical advances, but on the consistent dedication of an adult congenital cardiologist who can be a lifelong partner to these unique patients and liaison to the right care at the right time.

This article first appeared in the Fall 2015 issue of Lucile Packard Children's News.

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