Faces of adult congenital heart disease: Marathoner, mom, researcher

Spartan race 2Most people with congenital heart disease (CHD) are diagnosed at birth. But Dr. Kornelia “Nelly” Polyak found out about her condition in medical school.

After a lesson on cardiology, the teacher demonstrated an EKG on Nelly. Everyone was surprised by the abnormal result, and an echocardiogram confirmed that Nelly had CHD.

“I didn’t believe it at first. I was active, otherwise healthy, and felt fine — how could I have a heart problem,” says Nelly, who modestly describes herself as “more active than most people.”

Soon she learned she had an atrioventricular canal defect (ASVD), a hole in her heart that disrupted proper blood flow and also affected her mitral valve.

“It was pretty big,” says Nelly, “and I was warned my heart could fail before my 40th birthday if I didn’t have surgery.”

She decided to have the surgery to close the ASVD.

Six months later, Nelly left her home country of Hungary to enroll in graduate school at Weill Cornell Graduate School of Medical Sciences – Sloan Kettering Cancer Center in New York City. After that she went on to Johns Hopkins University in Baltimore, Maryland, for post-doctorate training in cancer genetics, and then accepted a faculty position at Dana-Farber Cancer Institute in Boston. She also started seeing Dr. Michael Landzberg in the Boston Adult Congenital Heart Program (BACH), a joint collaboration between Boston Children’s and Brigham and Women’s Hospital.

When Nelly became pregnant, she was closely monitored through BACH and at Brigham and Women’s because her pregnancy was considered high-risk. However, Nelly had no complications. She underwent a fetal ultrasound because AVSD can be genetic, but as far as she knows, no one else in her family has it. She kept working out with minor limitations during pregnancy, and her daughter Olivia, now almost 6, was born with no cardiac issues.

“Sometimes I listen to her heart,” Nelly admits, “but she’s fine!”

For many years, Nelly’s heart functioned well, but in 2015, her doctors grew concerned again.

congenital-heart-diseaseA second surgery and a positive outlook

Nelly had a mitral regurgitation that seemed to be worsening, and her left atrium had become enlarged due to the extra pressure on that side of the heart. She also had occasional abnormal palpitations because the muscle was stretched, and Landzberg warned this could lead to atrial fibrillation, a dangerous condition in which the heart rhythm is too fast and erratic.

The recommendation was another surgery.

Dr. Sitaram Emani performed a valve repair, and less than 24 hours after surgery, Nelly was up and walking. Three weeks later, she was back to work walking two miles to and from her office — but heeded Landzberg’s advice and didn’t run or bike for at least six weeks. Of course, that was a little difficult for the active doctor/patient.

Since her surprise diagnosis and first surgery, Nelly has run the Boston marathon, multiple half marathons and a Spartan race. She’s hiked and scuba dived all over the world, including Ecuador, Costa Rica, Argentina and Australia. Photos of a whitewater rafting trip in West Virginia decorate the walls of her office (alongside some greenery and lots of Olivia’s original artwork).

To others facing a new diagnosis of CHD, she advises: “See what your limits are, and don’t be afraid of doing things. Some people with congenital heart disease are afraid to exercise, so they don’t. That’s not good! If you don’t exercise, you put yourself at risk for other diseases, like coronary artery disease. My philosophy is: test your limits in a way that’s safe. Always train so you know what you’re doing. Do what you can. Focus on what you can do and what you can accomplish.”

Learn more about the Boston Children’s Adult Congenital Heart Service.