How joint pediatric heart program diagnosed and treated a young girl’s rare condition

A collaboration between Kentucky Children’s Hospital and Cincinnati Children’s Hospital Medical Center brings together the expertise of Kentucky’s top hospital and the country’s leading children’s hospital to create one of the top pediatric heart programs in the country, according to U.S. News & World Report.

A vibrant young patient from Central Kentucky is living proof of how that relationship is changing lives.  

Madelyn Amburgey is just like any other 8-year-old girl; she loves singing, dressing up and playing with her friends. However, she has already demonstrated remarkable resilience during her young life. 

Madelyn appeared healthy at birth, and although she was smaller than expected at merely 4 pounds, 10 ounces, she and her family were discharged from their community hospital without concerns. Madelyn was at home in Mt. Sterling for only a few days before her mother, Melinda, started noticing Madelyn was having constipation issues. Melinda took her to their primary care physician to get checked out. 

Melinda had no idea their world could change so quickly. 

“She had this head bobbing,” Melinda said. “We thought it was a natural soother, and the hospital she was born at told us it was a natural soother, so we didn’t think it was an issue.”

Madelyn’s primary care doctor was concerned and sent the Amburgeys to their local hospital. Madelyn’s health quickly worsened on the way there. Madelyn’s body temperature and oxygen were dangerously low, and her heart rate showed alarming spikes.

The local hospital was not equipped to treat Madelyn in her critical state, so after stabilizing her, they transferred her by ambulance to Kentucky Children’s Hospital. 

‘I was terrified’

When Madelyn arrived at Kentucky Children’s Hospital, she was critically ill and progressing towards shock.

“Her heart rate was sky high,” Melinda recalled.

Madelyn’s doctors in the Pediatric Intensive Care Unit (PICU) at Kentucky Children's Hospital emergently placed a breathing tube.

They were quick to consider a cardiac cause; a heart ultrasound confirmed an aortic coarctation, a condition where the blood vessel that leads from the heart narrows leading to insufficient blood flow to the body. 

Madelyn’s physicians initially suspected she had a lung infection based on an abnormal chest X-ray, but after further investigation discovered she only had half of her right lung and abnormal connections of her pulmonary veins.

This condition, known as scimitar syndrome, is a rare congenital heart defect affecting about 1 out of every 100,000 babies born. Madelyn’s frequent head bobbing, the Amburgey’s learned, was actually a sign of breathing difficulties.

Dr. Kristopher Cumbermack, medical director of the Congenital Echo Lab at Kentucky Children’s Hospital, has taken care of Madelyn since her initial diagnosis.

“This combination of heart and lung abnormalities is incredibly rare with only a handful of case reports previously described,” said Dr. Cumbermack. “Receiving care from the appropriate experts like those at Kentucky Children’s Hospital is critical to optimal long-term outcomes.”  

“I was terrified,” Melinda said. “We were sitting in the waiting area, and they told us we needed to go to the conference room – of course, your first thought is that they are not going to make it. That is when Dr. Cumbermack explained to us that Madelyn needed surgery.”

Madelyn first needed reconstructive surgery in which her surgeons would remove the obstruction in her aorta and create an open pathway to allow the blood to travel freely.

“I couldn’t make myself stand up. I was so scared,” Melinda said. “My husband told me, ‘We just have to push on.’” 

And so, they did. The Amburgeys had Madelyn blessed and had friends and family visit before her surgery. 

 A trustworthy health care partnership

Madelyn was medevac-ed to Cincinnati Children’s Hospital and at just 21 days old, underwent her first heart surgery. Since that surgery, she has undergone two catheter procedures to relieve recurrence of arch obstruction; a surgery to repair her abnormal pulmonary veins; and two additional surgeries to remove a membrane that grew underneath her aortic valve.

These membranes, which tend to regrow, are similar to scar tissue and can make it more difficult for blood to travel to the aorta.

Madelyn received her surgeries at Cincinnati Children’s Hospital while receiving medical care, including echocardiograms, at Kentucky Children’s Hospital. While Madelyn is currently stable and doing well, her physicians at Kentucky Children’s Hospital continue to closely monitor her condition.

The “bridge” in her heart from the pulmonary vein rerouting surgery has since closed off, but her body was able to create its own path for the blood to travel.

“It was crazy when the doctors told me it was blocked off, but the blood found a way around the bridge and is now circulating the correct way,” Melinda explained.

The Kentucky Children’s Hospital and Cincinnati Children’s Hospital Joint Pediatric and Congenital Heart Program has proven itself a trustworthy health care partner to the Amburgeys.

“If she is having issues, they (Kentucky Children’s Hospital) are the first people I call,” Melinda said. “We are kind of on a first-name basis.”

Madelyn remains bright, bubbly and wise beyond her years. Her health challenges never stopped her from doing what she loves — performing. At just 8 years old, Madelyn’s accomplishments are remarkable. 

Madelyn has had the honor of singing the National Anthem for Kentucky Governor Andy Beshear. She currently holds a national title for the U.S. Miss Pageant. Madelyn even accompanied country music singer Sam L. Smith on stage at a recent concert. 

Her accomplishments don’t stop there. Madelyn devotes countless hours to charity work through her platform “Maddy’s Helping Hearts”. She most recently helped coordinate a large toy donation to Kerrington’s Heart Toy Kloset. 

The obstacles Madelyn has faced have shaped her outlook on life and even influenced her to pursue a career in cardiology or nursing and help patients like herself. 

“What amazes me about this family is the devotion to Madelyn to reach her greatest potential even when that was frightening,” Dr. Cumbermack said. “Despite all the surgeries, procedures, hospital admissions she has been through, all the stress and worry by the parents, through their love and dedication, and a little help from her care team, she has already accomplished so much.

"We are all very fortunate to experience the joy Madelyn brings with her singing, her performances, and her infectious personality. This is what it’s all about for me and our team. I look forward to seeing what she does next.”

See how we care for kids like Madelyn through Kentucky Children’s Hospital’s nationally ranked Joint Pediatric and Congenital Heart Program.