Atrioventricular Canal Defect (AVC): Roman's Story

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Roman was born with a congenital heart defect and trisomy 21. He underwent surgery at Children’s Hospital of Philadelphia (CHOP) when he was 3 months old to repair his heart, and has been going strong ever since. Now 2, Roman loves to play with dinosaurs, cars and trucks.

Roman smiling At a 20-week ultrasound, expectant parents, Sarah and Hector, learned they were having a boy. But the technician also saw a problem with the baby’s heart and indications of trisomy 21 (Down syndrome). The next day a fetal echocardiogram showed that their son had a large hole in the center of the heart, where the upper and lower chambers meet — a condition known as atrioventricular canal (AVC) defect.

Cardiac care in Allentown

Roman was born in Allentown, PA, near the family’s home. Testing after birth confirmed that he had trisomy 21, and an echocardiogram confirmed the AVC defect diagnosis. Robert Palermo, DO, FACC, a pediatric cardiologist with Children’s Hospital of Philadelphia who practices at CHOP’s Cardiac Center in Allentown, examined Roman when he was a day old and discussed treatment options.

The repair would need to be completed with a surgical procedure when Roman was between 3 and 6 months old. He would need frequent visits with Dr. Palermo while waiting to get to the optimal size for repair. Dr. Palermo referred the couple to CHOP’s Cardiac Center in Philadelphia for treatment and surgery.

When Roman was 2 weeks old, Sarah and Hector brought him to the Cardiac Center at CHOP meet with cardiologist Anita Szwast, MD. Over the next few weeks, Dr. Szwast managed Roman’s care  while the team monitored his condition to decide the optimal time to schedule his surgery.

Because his heart needed to work harder, Roman's breathing was labored and he had trouble eating. His parents and his older sister, Isabella, learned to monitor him closely, and to look for signs of trouble. Roman took Lasix to reduce extra fluid in his body that resulted from his heart not pumping optimally. 

Closing the hole in Roman’s heart

When he was almost 4 months old, Roman came back to CHOP for his surgery, which was performed by Christopher Mascio, MD, an attending surgeon in CHOP’s Cardiac Center. During the procedure, Dr. Mascio placed a patch of material over the hole to separate the two lower chambers of Roman’s heart.

The procedure was successful, and Roman was in the Hospital for just four days after the surgery. He needed oxygen support for a few days, but was back to room air by the time he was discharged to go home. The positive changes were visible almost immediately.

“As soon as they gave him a bottle, he drank,” remembers Sarah. “And his color was better. He was so pale before. I didn’t realize how sick he looked until after the surgery.”

Roman today

Since then, Roman has been thriving. At home, he had early intervention therapy to help overcome developmental delays. He’s done so well that he only needs speech therapy now. To supplement his oral communication, he has learned some sign language.

Now 2, Roman is a fun, energetic and loving little boy. He likes to play with his older sister and younger brother. Isabella, his older sister, loves him dearly and, at 7, knows so much about Trisomy 21 (Down syndrome) that she can teach adults about the condition. Roman’s relationship with his adoring younger brother, isn’t quite as steady, his parents joke. They flip between hugging and fighting.

Roman has special interests in dinosaurs, cars and trucks. He loves music and dancing. And he enjoys video chats with his grandparents. He doesn’t have the words for long chats, but he blows kisses to get his message across.

Sarah and Hector bring Roman to see Dr. Palermo in Allentown for regular cardiac follow-up visits. The family is thankful that they can see a cardiologist in their community while still having access to the cutting-edge resources of CHOP’s Cardiac Center — one of the world’s leading pediatric heart centers.

“It’s amazing,” Sarah says. “When we first went to CHOP, we were scared. But meeting the people there put us at ease.”

The staff is awesome. Every doctor took time with us to explain what would happen. And after the surgery, the nurses never left his side. Everybody made us comfortable. I would never have had the surgery anywhere else.

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