To celebrate February as American Heart Month, the News Blog is highlighting some of the latest heart-centric news and stories from all parts of Penn Medicine.
Congenital heart disease (CHD) is the number one birth defect in the U.S., affecting one out of 120 babies. This group of conditions consists of a defect or malformation in one or more structures of the heart or blood vessels that occurs before birth. Some of the most common forms of CHD are heart valve defects, defects in the walls between the atria and ventricles of the heart, and heart muscle abnormalities that can lead to heart failure. Though some forms of CHD were once considered lethal, dramatic surgical and medical advances over the past several decades now allow more than 90 percent of these children to live into adulthood.
Now, for the first time ever, there are more adults than children living with CHD in the U.S. It is estimated that there are approximately 1 million adults living with CHD in the U.S. alone and these numbers are expected to keep growing by about 5 percent each year.
A major issue for these adults is the common misperception that the surgeries they had as children were "curative.” Many patients often leave the medical system when they reach adulthood, thinking they are ok, only to return in their late 20s, 30s, or beyond - during a crisis.
Programs that bridge the gap between pediatric and adult care are crucial to keeping these patients healthy. That’s why Penn Medicine and The Children's Hospital of Philadelphia joined forces to create the Philadelphia Adult Congenital Heart Center.
“Adults with congenital heart disease are not just ‘big kids’,” says Yuli Kim, MD, assistant professor of Medicine and director of the Penn Medicine Adult Congenital Heart Disease Program . “Many are survivors of pediatric heart disease and others still are diagnosed for the first time in adulthood. At the Philadelphia Adult Congenital Heart Center, we address the complex healthcare needs of this population by providing comprehensive care to the whole person. Our team includes cardiologists, geneticists, pulmonologists, and reproductive specialists. We have the resources of two world-class institutions to tailor care for each patient.”
Listen as Dr. Kim explains the importance of adult congenital heart patients getting multidisciplinary care.
Transitioning from being a child with a heart problem to being an adult patient – who must learn to communicate with health care professionals and navigate the insurance process on their own – can be a special challenge.
“This is a relatively young cohort of patients, many of whom are used to having a parent interface with the doctor at regular visits instead of themselves” says Dr. Kim. “We emphasize ownership of your diagnosis such that each patient is empowered in knowing their anatomy and repairs. Many of our patients struggle with insurance, especially as congenital heart disease has traditionally been considered a pre-existing condition. Some of our patients struggle with the feeling of being different from their peers at school or work. Sometimes it is difficult for people around them to understand that they are a ‘heart patient’ and except for a scar on their chest, peers and coworkers would not know that they have a medical condition.”
One major issue for adults with CHD is reproductive health. Many patients worry whether they can have healthy pregnancies or if their children might have CHD themselves.
Successful pregnancies are possible with most forms of congenital heart disease. However, the many changes in a woman's cardiovascular system during pregnancy may cause increased risk to the mother with CHD, and her baby.
“Unfortunately, for some women, pregnancy is just not recommended or even contraindicated,” Dr. Kim says. “But often, we can recommend procedures to decrease the risks associated with pregnancy. For other patients, it just requires a full assessment by the CHD cardiologist including a physical exam, echocardiogram, and other testing such as a cardiopulmonary exercise stress test.”
She says the best way to have a healthy pregnancy with CHD is to have a planned pregnancy. Patients should seek out pre-conception counseling, where the risks of pregnancy, labor, and delivery are discussed up front.
Growing and Thriving
With appropriate medical care, adults with all kinds of heart defects are now living longer, fuller lives than ever before. There is no better example of this than CHOP/Penn patient, Brittany Rotonda. As an infant, she was diagnosed with a congenital heart defect. Before she reached the age of two, Brittany had undergone two procedures to help repair her heart.
“I am fortunate enough to have no memory of my early surgeries,” she says. “Growing up, you would never have known I had a heart defect. I never looked or acted any different than my peers. I was always very active and participated in many sports. In fact, I was the fastest girl in my third-grade class!”
In high school, she played both varsity field hockey and softball. She went on to thrive in college, but at the age of 21, Brittany learned that she would need additional procedures.
“I was told I needed another surgery down the road to repair my pulmonary heart valve. There had been a leak in the valve since my first open heart surgery, and over the years, the leak got worse. I didn’t think much of this news since I was 21 years old and “down the road” meant 20 more years to me.”
In 2008, Brittany got married and two years later, she and her husband decided they wanted to start a family. But her doctors let her know that she would have to wait until she had her valve repaired to become pregnant.
“This news came as a shock to me. Why did I need open heart surgery when I felt completely healthy? I was exercising daily and was in the best shape of my life! I just couldn’t wrap my head around the fact that I would be having open heart surgery,” she remembers.
Brittany had a successful operation in December 2010 to fix her leaky valve, and just three months later, she learned she was pregnant and delivered a healthy baby boy, Preston Jamie, on 11/11/11.
“He is truly a miracle and a blessing and is as healthy as can be” she says. “I always dreamed of becoming a mother and I didn’t let a little heart condition stop me. I simply wouldn’t let it.”
Read Brittany’s inspiring story of hope and happiness in her own words.
Continued Progress in CHD Treatment and Care
Dr. Kim and her colleagues continue to search for better approaches in the monitoring and treatment of CHD patients, including minimally invasive approaches to replacing faulty heart valves in CHD patients. The Penn/CHOP team is also investigating the use of noninvasive magnetic resonance imaging (MRI) to better illustrate the anatomy and physiology of congenital heart diseases and improve diagnostic and interventional cardiology procedures.
Their ultimate goal is to develop a national database of CHD patients to better understand disease patterns and to track outcomes. CHD is a lifelong disease that begins in childhood and continues into young adulthood and beyond. With a robust database of all CHD patients in the United States, CHD specialists can develop care strategies to ensure high-quality care to all.