Charting a new path for Sophie: A unique solution for rare heart defect

Sophie Bauernfeind was born with “an uncommon problem in a world of uncommon problems,” according to M Health Fairview Pediatric Cardiologist Matthew Ambrose, MD.

The issue? A rare congenital heart defect called neonatal Ebstein anomaly.

An Ebstein anomaly is a congenital heart defect that occurs when babies are born with a faulty valve between the two right chambers of their heart. This causes the heart to swell, putting pressure on the lungs and making it difficult to breathe. It also makes it difficult for the heart to effectively pump blood.

Many people are born with Ebstein anomalies and don’t notice symptoms until later in life. Neonatal anomalies, ones that are noticeable from birth, are the most severe.

Doctors discovered Sophie’s condition during a 20-week ultrasound. It wasn’t certain that Sophie would survive until birth, but an interdisciplinary team of specialists at M Health Fairview Masonic Children’s Hospital sprang into action to help. The care team monitored Sophie closely in the womb, with weekly hospital visits for Sophie’s parents – Aaron and Bethany Bauernfeind. When Sophie was delivered after a full term – and came out crying – her family was thrilled.

But Sophie’s struggle wasn’t over. She was taken immediately to the Neonatal Intensive Care Unit (NICU) at M Health Fairview Masonic Children’s Hospital. After 12 hours, she was no longer able to breathe on her own. Doctors placed her on a ventilator to support her lungs.

Sophie’s heart defect needed to be repaired as quickly – and thoroughly – as possible. Heart surgery involving newborns is particularly challenging. Thankfully, a unique and innovative two-step procedure got Sophie out of critical condition, and then fully repaired her faulty valve.

Charting a new path for Sophie

Traditionally, there are two ways to fix an Ebstein anomaly. Surgeons can close the valve and create an alternate route for blood flow that bypasses the lower right chamber of the heart – called the right ventricle.

Or, they can repair the valve. Repairing the valve itself is usually preferred. However, it’s often impossible for smaller patients.

“Valve leaflets in a baby are paper thin. It’s difficult to rearrange them and repair the valve well when a baby is young,” said M Health Fairview Pediatric Cardiac Intensivist Brian Joy, MD, who helped care for Sophie after delivery. “Most of the time, full repairs are done on older patients.”

If not, setting up an alternate blood flow requires a three-step procedure. Surgeons perform one surgery to close the valve. They then perform two additional surgeries to set up an alternate blood flow route.

Doctors needed to act quickly because Sophie was in critical condition in the NICU. However, a full valve repair would set her up for better quality of life. In the end M Health Fairview Cardiac Surgeon Sameh Said, MD proposed a compromise – a new and unique approach that would combine the two traditional surgeries. First, he would close Sophie’s valve. Then, once she’d had time to grow, he would undo the closure and perform a full valve repair.

“Our doctors discussed multiple surgery options with us after Sophie was born. We had faith that she would survive and knew she would likely need surgery to fix the defect,” said Bethany. “They explained our options and what factors they would need to look at in her first days after delivery.”

The Bauernfeinds ultimately decided to move forward with this third option, to temporarily close the valve and then do a full repair. A surgical team closed Sophie’s valve just 10 days after birth.

Dedicated clinic helps Sophie prepare for surgery

After Sophie’s first surgery, her heart was operating with only one ventricle.

Brian Joy, MD, is part of a dedicated single-ventricle team at the Heart Center at M Health Fairview Masonic Children’s Hospital. This team follows complex patients like Sophie, who have only one working ventricle. It includes experts from cardiology, cardiac intensive care, surgery, nutrition, nursing, and rehabilitation services. This team worked closely with Sophie’s family, helping her grow to prepare for her valve repair.

“Sophie stayed in the Cardiovascular Intensive Care Unit after surgery. We got to take her home when she was seven weeks old, and we immediately became home nurses to our little girl,” said Aaron Bauernfeind, Sophie’s father. “We had to give her a bottle every three hours – she was always full, always exhausted from feeding. Eventually, the hospital was able to give her a feeding tube. That opened her up to overnight feeding and allowed all of us to sleep. For the first time, we got to experience a little bit of normalcy with our new baby.”

Slowly, Sophie gained weight and strength. When she was six months old, she came back in for her full valve repair.

“During the first operation, we closed the faulty valve with a patch. During the second operation, we removed the patch and repaired the valve,” said Said. “She did very well after both procedures and, so far, her valve and heart are looking good.”

‘An incredible turnaround’

“People tell us all the time, ‘We wouldn’t have known Sophie had heart surgery, if you didn’t tell us,’” said Bethany. “She’s been doing great, and we are so grateful for our little miracle.”

The Bauernfeinds now get to enjoy uninterrupted time at home as a family. After a year of worrying – when Sophie was in the womb, in the NICU, and going through two open-heart surgeries – Aaron and Bethany have a daughter with a healthy heart.

“My initial conversations with Aaron and Bethany were hard – with Ebstein anomalies, we can hope for the best, but many babies don’t make it out of the womb,” said Ambrose. “To see Sophie’s story turn out so positively – it’s an incredible turnaround.”