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Steffi and Cassi Adult Congenital Heart Disease program at Herma Heart Institute at Children's Wisconsin

All in the family: How the Herma Heart Institute helped two sisters navigate heart disease and pregnancy

The bond between sisters often is described as enduring and irreplaceable. From childhood playmates to lifelong confidantes, sisters navigate life's ups and downs together. They famously share secrets, clothes and sometimes hobbies. But for sisters Cassi and Steffi, they also share a congenital heart defect (CHD).

“When I was born, doctors heard a heart murmur,” said Cassi, who is 29 years old. “Ultimately, I was diagnosed with a bicuspid aortic valve.” 

The aortic valve connects the lower left chamber of the heart with the aorta, the body’s main artery. Flaps of tissue on the valve, known as cusps, open and close with each heartbeat and ensure blood flows in the proper direction. A typical aortic valve has three cusps. Those with a bicuspid valve only have two cusps. This can cause narrowing of the aortic valve (stenosis) and backward flow of blood, or “leaking,” known as regurgitation. 

Bicuspid aortic valve (BAV) is one of the most common and treatable congenital heart defects, affecting approximately 1 percent of the population. Individuals can live with BAV for years without ever having an issue. However, once signs of valve regurgitation or stenosis appear, the heart may be under increased strain as it works harder to pump blood throughout the body. This added effort ultimately can contribute to heart failure if not corrected.

Throughout her childhood, Cassi underwent yearly echocardiograms (an ultrasound of the heart) with her pediatric cardiologist to keep tabs on her condition. During physical activity, she monitored herself for signs and symptoms that might indicate her heart was having trouble keeping up — shortness of breath, fainting and getting tired easily.

“I did feel a little different growing up, knowing that I had a heart condition, but it didn’t affect me that much,” said Cassi “My doctors always said, ‘You know your limits.’”

An unexpected bond

Steffi and Cassi Adult Congenital Heart Disease program at Herma Heart Institute at Children's Wisconsin Steffi, who is four years older than Cassi, grew up without any physical limitations. She started playing basketball and softball at the age 5, and even ran cross country her freshman year of high school. As kids, Steffi and Cassi would play outside together all summer long and Steffi remembers always carrying a worry in the back of her mind that Cassi needed to take it easy because of her heart condition.

“Every year when Cassi had her annual check-ups with her cardiologist we would all be so happy and relieved when everything went well,” said Steffi.

But in 2008, when Steffi went in for a routine physical before her senior year of high school, she was shocked when doctors detected a heart murmur for the first time. An echocardiogram confirmed that Steffi also had a bicuspid aortic valve.

Cassi has always known about her condition,” said Steffi. “I’m not sure if my murmur got worse over time until the doctor heard it, but for me to find out much later was a big surprise.”

An even bigger surprise came just five years later. During an annual exam, Steffi’s cardiologist determined her valve was leaking. In 2013, when she was 21 years old, Steffi underwent open-heart surgery and had her aortic valve replaced with a mechanical one. 

One year later, Cassi had the same surgery.

”When Cassi had her surgery after me it allowed me to be super supportive of her and help her through the process,” said Steffi.

Like Steffi, Cassi opted for a mechanical valve instead of a biological replacement. The biological tissue valves (made from a cow or pig), break down over time and may eventually need to be replaced again. The mechanical valves are much more durable, but do require recipients to be on blood thinners for the rest of their life to prevent blood clots from forming on the valve.

The shared experience bonded the sisters in a way they hadn’t expected.

“We weren’t super close during my high school years due to the age difference,” said Steffi. “We became closer as she was graduating from high school and then we became 100 percent connected on another level after our surgeries.”

The shared journey continues 

Steffi and Cassi Adult Congenital Heart Disease program at Herma Heart Institute at Children's Wisconsin In 2016, two years after her open-heart surgery, Cassi had an opportunity to repay Steffi with support and guidance through another major life milestone — pregnancy.

“I always knew I wanted to be a mom, even though I knew it would be a high-risk pregnancy,” said Cassi. “When I found out I was pregnant, I was worried about my heart because there were so many unknowns.”

Cassi’s obstetrician in Green Bay referred her to the Adult Congenital Heart Disease (ACHD) Program offered by the Herma Heart Institute at Children’s Wisconsin. It is one of the leading programs in the nation and the largest in the state. 

Since congenital heart disease is different than heart disease acquired by age or lifestyle factors, most adult providers and cardiologists aren’t trained to care for it. In fact, there wasn’t even an official certification for adult congenital heart disease specialists until early 2016. Pediatric cardiologists, by definition, aren’t trained to care for the needs of an adult patient. The result is a lack of adult cardiac physicians who are trained to treat congenital heart disease.

The ACHD team’s advanced training in both pediatric and adult cardiology makes them exceptionally qualified to provide complete care for patients through every age and stage of life, including pregnancy. The program also partners with the Children’s Wisconsin Fetal Concerns Center, one of the nation’s top fetal cardiac programs.

During pregnancy, a woman’s heart is under more strain as it works to pump efficiently for mom and the growing fetus’ body. This increased workload can put women with heart disease at increased risk of having adverse events, such as heart failure or arrhythmias. 

“Being seen in a multidisciplinary setting by specialized providers who understand their unique care needs is very important for improved pregnancy and birth outcomes,” said Scott Cohen, MD, director of the ACHD Program at Children’s Wisconsin. “Not only do we have a clinic with a multispecialty team, but once a month we conference with all the providers to discuss cases and complications. We have access to so many resources to help these women and their babies have safe pregnancies and the best care.”

While having a CHD and being pregnant is unique, it’s becoming more common.

“About 90 percent of females with congenital heart defects are living into adulthood and reaching child-bearing age,” said Dr. Cohen. “Of the 1.5 million people with CHDs, half of them are women. The field of cardio obstetrics is growing, but we are the only multidisciplinary cardio obstetric clinic in Wisconsin. We have the ability to build specific, individualized plans for women during pregnancy and labor and delivery with the subspecialists each patient needs.”

Coordinated, compassionate care

Cassi met with Dr. Cohen and his team to develop a plan for managing her blood thinner during pregnancy. Instead of taking an oral medication, Cassi switched to a twice-daily injection that was safer for the baby. However, the new medication required trial and error to ensure her blood was in the proper range to prevent forming clots on her valve. Cassi went for regular lab visits to monitor her blood work. Dr. Cohen also traveled to Green Bay once a month for clinics and would review her valve function.

“The doctors did an amazing job coordinating and explaining everything,” said Cassi. “I felt extremely at ease knowing that they were communicating together.”

Pregnant women in the ACHD Program also receive a specialized fetal echocardiogram at approximately 20 weeks of pregnancy to evaluate the developing heart of the fetus. Congenital heart defects may be hereditary, and a baby has a 6 to 7 percent increased chance of developing a CHD when the mother also has one.

“The fetal echo assesses the unborn baby’s heart structure and function,” said Dr. Cohen, who is also an associate professor at the Medical College of Wisconsin. “If a developing baby has been diagnosed with congenital heart disease, then the mother and baby are followed closely by our fetal heart program specialists to determine a care plan for pregnancy, labor and delivery, and the postpartum period.”

Bundles of joy

Steffi and Cassi Adult Congenital Heart Disease program at Herma Heart Institute at Children's Wisconsin Two months after Cassi found out she was pregnant, so was Steffi!

"I had recently gotten married and my husband and I planned to try for a baby right away,” said Steffi. “Cassi and I didn’t expect to be pregnant at the same time, but experiencing pregnancy together with both of us having a CHD brought us even closer. This time I was the one calling Cassi for advice and she could always relate to what I was feeling.”

Steffi and Cassi shared an obstetrician in Green Bay who once again referred Steffi to the Children’s Wisconsin ACHD Program.

“This is such an amazing program,” said Steffi. “I don’t know where I’d be without them. I didn’t need to reach out to five different providers myself. It was such a team effort. Everyone was on the same page.”

Steffi followed the same general course of treatment as Cassi, including meeting with Dr. Cohen and the whole team shortly after the 30-week mark to create a game plan for labor and delivery.

On June 5, 2017, Cassi gave birth to a baby girl, Aubrey Veronica. Less than two months later, Steffi delivered her baby girl, Livy Rose. Neither baby was born with congenital heart disease.

Ultimately, Cassi and Steffi would go on to deliver a total of seven babies under the watchful eyes of Dr. Cohen and the ACHD Program. All seven babies received echocardiograms in the hospital the day after they were born.

Steffi’s second baby, Cole William, was born on Oct. 10, 2019. The day after Cole’s birth, three doctors walked into her room and Steffi immediately sensed something was wrong. Despite two fetal echocardiograms during pregnancy showing normal heart function, Cole’s echo after birth picked up a bicuspid aortic valve, the same condition his mom and aunt have.

“I took it kind of hard,” said Steffi. “I was very emotional because we thought he was okay, but I’m so happy we knew about it right away. Cole and I definitely have a special bond.”

Steffi and Cassi Adult Congenital Heart Disease program at Herma Heart Institute at Children's Wisconsin Cole has been seeing Sara Creighton, MD, a pediatric cardiologist at Children’s Wisconsin, for echoes since before he was born and she continues to lead his care.

“Dr. Creighton has been nothing short of amazing,” said Steffi. “I’m so confident in her. She puts my mind at ease and has reassured me that we’re doing everything we need to do. Thankfully, his valve has been consistent and we hope it stays that way for a long time.”

Inseparable sisters

Cassi and Steffi continue to see Dr. Cohen annually, or as needed. They both feel thankful to have one another.

“I’m not happy Steffi has this heart defect, but it was a blessing to have someone in my life who knows exactly what you’re going through,” said Cassi. “I’m thankful we’re doing it together.”

Steffi wholeheartedly agrees.

“It’s not common for people our age to go through this, so to know someone so well and to be able to lean on each other for support is remarkable,” said Steffi. “We were there for each other throughout surgery, recoveries, pregnancies and now motherhood. I truly cannot imagine my life without her. She is my best friend.”