Heterotaxy Syndrome and Lymphatic Intervention: Carl’s Story

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Carl is an energetic 4-year-old. His mother, Tiara, describes him as “always smiling.” Watching him play outside or wheel his toy cars and trucks around the floor, you’d never know that he has had multiple surgeries to correct his heart problems.

Carl on a scooter outside smiling Tiara and her husband Carl found out something was wrong with their unborn son’s heart in a routine ultrasound. Their obstetrician immediately referred Tiara to Children’s Hospital of Philadelphia (CHOP), where the baby was diagnosed with heterotaxy syndrome (isomerism).

For the remainder of her pregnancy, Tiara went to CHOP’s Specialty Care & Surgery Center in Voorhees, New Jersey, where she was seen frequently by attending cardiologist Terry Anderson, MD, who has special expertise in fetal echocardiography and neonatal cardiology.

Preparing for delivery

As her due date approached, arrangements were made for Tiara to deliver at CHOP’s Garbose Family Special Delivery Unit, the world’s first birthing unit within a pediatric hospital. Her baby could get the immediate, expert care he would need, and Tiara could stay close.

When Carl (named after his father) was born, he was stabilized and taken to the Cardiac Intensive Care Unit (CICU). Carl’s heart was in the right side of his chest (dextrocardia syndrome), he had no spleen and his heart had a combination of malformations that would require a series of surgical procedures.  

Stephanie Fuller, MD, an attending surgeon in the Division of Cardiothoracic Surgery, performed a series of operations called “staged reconstruction,” starting with the placement of a shunt in baby Carl’s heart when he was just two days old. Tiara trusted Dr. Fuller from the moment they met.

I just knew she was going to take care of my son.

Lymphatic complications

In 2016, Carl had his third procedure as part of his staged reconstruction heart surgery. The operation went as planned, but triggered a complication that sometimes affects young patients who have surgery for heart defects.

Carl’s lymphatic system had been disturbed by the procedure. Fluid began to build up around his lungs, interfering with his ability to breathe. Dr. Fuller inserted two tubes to drain the fluid, which removed the pressure on his lungs. The drains were expected to be a solution to a short-term problem. It was expected that Carl’s lymphatic system would heal itself and redirect the flow of lymphatic fluid. But it didn’t. The flow of lymphatic fluid into Carl’s lungs continued at a high rate, and the tubes continued to be needed to drain it.

Fortunately for Carl, he was in the right place. Yoav Dori, MD, PhD, a pediatric cardiologist at CHOP, and Maxim, Itkin, MD, an interventional radiologist at the Hospital of the University of Pennsylvania (HUP), have collaborated on an innovative and effective interventional procedure to resolve lymphatic leaks. The two doctors direct the Center for Lymphatic Imaging and Interventions Program, a joint program of CHOP and HUP.

Innovative treatment

Dr. Dori used dynamic contrast MR lymphangiography (DCMRL), an advanced imaging test, to confirm the location of the leaks in Carl’s lymphatic system. He then performed a thoracic duct embolization to stop the flow of lymph that was leaking in his lungs.

Two days later, the flow of lymphatic fluid from the drains had slowed to a trickle, and the tubes were removed. “I never knew how much pain he was in until the fluid stopped leaking and the drains were removed,” says Tiara.

That night he slept through the night for the first time since the surgery.

Always smiling

Carl started preschool in October, and had a few months of freedom from medical issues. But as it turns out, he wasn’t quite out of the woods with his heart problems. As he approached his fourth birthday, he started to complain that he felt tired all the time, and an examination at CHOP showed that his heart was beating at a very high rate.

Called supraventricular tachycardia (SVT), a rapid heartbeat (arrhythmia) reduces the flow of oxygen from the heart and lungs to the rest of the body, as the heart is pumping too quickly to completely fill the heart’s ventricles with each beat.

Carl was seen by Victoria Vetter, MD, a cardiologist with special expertise in cardiac arrhythmias and autonomic nervous system dysfunction. Dr. Vetter prescribed an oral medication to bring Carl’s heart rate down to a normal level, and Tiara was trained to monitor his heart rate at home. When Carl is older, the electrical pathway causing the SVT may be able to be fixed by a procedure called catheter ablation, which will eliminate the need for taking this particular medication as well as the fast heart rate.

Carl looks and acts like a perfectly healthy young boy, and the medical scares haven’t put a dent in his smiling demeanor. He loves playing outside in his local park, and motoring in his imagination with his toy cars and trucks.


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