Left Atrial Isomerism: Annabelle’s Story
Patient Story Highlights
Thirteen-year-old Annabelle is gathering steam …
Described by her dad as “wicked smart,” Annabelle is embracing life as a teenager with a wide range of interests.
She loves to swim and dive and has a passion for marine science. She would like to be an animal trainer someday. Or perhaps a commercial artist. An avid reader, she also has plans to write a fantasy fiction book.
While a full plate of interests may not be uncommon among teens, perhaps this teenager is different — because she takes less for granted.
You see, Annabelle was born with an extraordinary heart.
“People say to me, ‘that must be hard,’ but I only know life with a weird heart. I don’t know what life would be like otherwise,” Annabelle says.
• • •
Annabelle’s parents, Mike and Kate, wanted nothing more than to raise a family. They’d been trying to have a baby for six long years when, finally, they were able to delight in the news that Kate was carrying twins, Annabelle and Madeleine.
But during Kate’s second trimester, an ultrasound uncovered a shattering truth.
One of the babies had serious heart abnormalities. A condition called left atrial isomerism rendered some organs out of place. Annabelle’s heart and stomach were flipped, and the right side of her heart had not fully formed, leaving her with a single ventricle — essentially only one pumping chamber, where a normal heart has two.
“I remember a doctor telling us, ‘your baby has a condition that is not compatible with life,’” Kate says.
But life persisted.
The twins were born on a late summer day in 2009. Annabelle was whisked away to the cardiovascular intensive care unit (CVICU) of what is now Johns Hopkins All Children’s Hospital in St. Petersburg, Florida.
Annabelle’s first days, months, and even years would center around undergoing multiple reconstructive heart surgeries that were critical to saving her life.
The common denominator throughout those early years was James Quintessenza, M.D.
“Dr. Q,” as he is called, is a talented pediatric cardiac surgeon with decades of experience in resolving some of the most complex heart issues in children. Today, he is the co-director of the Heart Institute and chief of cardiovascular surgery at All Children’s.
Annabelle’s issues were indeed complex, and Quintessenza performed the early surgeries on her heart that would allow her to have a childhood.
“He gives you a sense of trust,” Kate says. “He is brilliant and confident. Annabelle has a ‘custom’ heart and he built it.”
Annabelle still had challenges. With essentially half of a functioning heart, she would fatigue easily at times, and she had a harder time kicking viruses than other kids. But, fiercely independent, she refused to allow her heart condition to keep her from doing the things she wanted to do.
Sheer perseverance worked for a time.
But in more recent years, Annabelle began to truly struggle. Walking to class or even down the hall would leave her exhausted and out of breath. She had headaches. She looked pale and blue. She just didn’t feel good.
As it turned out, Annabelle’s oxygen levels were trending alarmingly low. A normal oxygen saturation level is between 95–100 percent. But Annabelle’s were in the low 80s.
She began requiring supplemental oxygen and carried an oxygen tank to school.
Annabelle’s heart was working very, very hard.
In the fall of 2021, Annabelle’s doctor encouraged the family to begin to consider what had, until then, been unthinkable for Annabelle … the possible need for a heart transplant.
The heart transplant team at Johns Hopkins All Children’s evaluated Annabelle, and in early 2022 she was placed on the waiting list for a heart.
It was a stunning prospect for a family to have to consider.
“We were not excited about a heart transplant for her,” Mike says. “Who would be? She would be on anti-rejection medications. She would be more susceptible to other illnesses. This was a time of COVID.”
A heart transplant could normalize the circulation problems Annabelle was having and could ultimately lengthen her life, but the procedure and the care that come afterward present their own risks and challenges.
Was there any other option?
Quintessenza believed there might be.
A Path Less Taken
Dr. Q had observed that Annabelle’s unique heart was still functioning quite well. But something else was in play, something called the “hepatic factor.”
Blood from Annabelle’s liver was not adequately getting to her left lung. As a result, she had developed arteriovenous malformations (AVMs), tangles of blood vessels that formed incorrectly, decreasing her oxygen levels.
Instead of a heart transplant, Quintessenza proposed a less risky operation — one designed to reroute blood coming from her liver to her left lung. Annabelle would have a 70 to 80 percent chance for improvement, and she might get to keep her heart.
But the procedure itself was highly unusual. With cases like Annabelle’s so rare, Quintessenza had only performed this procedure a few times, even though he has done thousands of operations over the years.
“Every decision we make as a team involves — what is the risk to the patient and what is the benefit,” Quintessenza says. “If there’s a clear benefit and a pathway to improve quality of life and the risks are lower, this was a reasonable thing to try.”
The family pondered their choices, with Annabelle making her vote clear.
“This is my heart. I want it. I want to keep it for as long as possible.”
On April 27, Quintessenza and the heart surgery team performed a thoracotomy on Annabelle, accessing through her side, and created a pathway for blood coming through her liver to reach the lung via a type of shunt called an H-graft.
“We were able to route the liver blood into the blood that was circulating through the left and right lung, and now all of the sudden the left lung was bathed in this “hepatic factor,” Quintessenza says.
The surgery went smoothly. But this was not designed to be a quick fix.
It would take months to fully determine whether the procedure had been effective.
Gradually, as the weeks and months ticked by, Annabelle’s pain began to subside. She was getting stronger.
But something else was happening …
The signs were nuanced at first.
Annabelle’s mom remembers the day she realized she didn’t need to charge Annabelle’s oxygen tank as often. Her daughter was using it less.
One day Annabelle was brave enough to go to school without it. And she did beautifully.
Annabelle’s oxygen saturation levels were up. Way up. Her skin had turned a healthy pink, instead of blue. She had fewer headaches. She felt better and had more energy.
Several months after her surgery, Annabelle underwent a stress test. Her O2 levels remained normal — a complete turnaround from the discouraging numbers recorded before her surgery.
The stress test results supported what the family already knew. The procedure had worked for Annabelle.
Life was looking up …
Off The List
In December, there was exciting news.
The heart transplant team had reviewed Annabelle’s progress and decided she could come off the heart transplant list.
SHE GETS TO KEEP HER HEART!!
Kate celebrated in bold letters between heart emojis on her Facebook page.
“Dr. Q’s creative thinking to solve the problem really changed the trajectory of her care and her life,” Kate says.
Quintessenza cautions that with Annabelle’s complex heart issues, there is a possibility that she may still one day need a heart transplant.
But not today.
“I hope we get as many years of improved quality of life as possible,” Quintessenza says. “If it’s lifelong, that would be extraordinarily great.”
For now, possibly for many years, hopefully forever, Annabelle gets to keep the heart that is hers.
That is just fine with Annabelle because she has things to accomplish — and she is just getting started with her fabulous, extraordinary teenage life.
You may need to pick up the pace to keep up with her.