Single Ventricle Heart Defect and Chylothorax: Emmett’s Story
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Emmett is a cheerful and playful baby. He loves to laugh, and his family just recently celebrated his first birthday. By looking at him, you would never guess that he’s already had multiple surgeries to correct a complex congenital heart defect and a lymphatic flow disorder.
Doriana and Nate have always described Emmett as their miracle baby. After five years of trying to conceive, they were thrilled to find out they were pregnant in 2015. During a routine 20-week ultrasound, they were excited to find out they were having a boy, but the ultrasound also brought some troubling news.
“We were told they couldn’t get good pictures of our baby’s heart,” remembers Doriana. “Our midwife told us that this could be really bad. We were in shock — we just kept thinking that the ultrasound technician did something wrong.”
A rare diagnosis
Doriana and Nate went to Lancaster General Health nearby their home to see Marie M. Gleason, MD, FAAP, FACC, an Attending Cardiologist and Director of Children’s Hospital of Philadelphia (CHOP) Cardiac Outpatient Operations. CHOP has a collaborative agreement with Lancaster General Health, under which CHOP pediatric hospitalists and cardiologists provide care at the location.
About Staged Reconstruction
Dr. Gleason diagnosed the unborn child with a rare heart defect called double inlet left ventricle (DILV), which impacts the heart’s chambers and valves. “She explained to us that the left chamber was big and the right one was small, which means that only the left chamber was developing. If we didn’t have an intervention, the baby wouldn’t survive,” says Doriana.
The baby would need staged reconstruction (a series of three open heart procedures) after he was born to treat the heart defect. CHOP’s Fetal Heart Program would also have to closely monitor Doriana throughout her pregnancy. She had regular ultrasounds and echocardiograms to observe her progress, but she didn’t have any additional complications.
Emmett’s first surgery
Doriana was induced in April, 2016 at CHOP’s Garbose Family Special Delivery Unit, the world’s first birth facility in a pediatric hospital specifically designed for mothers carrying babies with known birth defects. During Doriana’s labor, doctors realized the umbilical cord was wrapped around Emmett’s neck, so he was delivered via C-section. He was then placed in the Evelyn and Daniel M. Tabas Cardiac Intensive Care Unit (CICU) for round-the-clock care.
Emmett would need his first surgery (the Norwood procedure) at just 32 hours old. Doctors operated on Emmett to ensure that his blood-flow was controlled enough to prevent damage to his heart and lungs. The operation was successful, and the family was able to go home in less than two weeks.
“It was a little scary coming home. We were new parents dealing with all of the ‘new parents stuff,’ but it was also nerve-wracking thinking about his heart,” says Doriana.
Emmett’s progress was closely monitored during regular evaluations in Lancaster under the care of Matthew Elias, MD, an Attending Cardiologist with CHOP’s Cardiac Center, who sees patients in CHOP’s various locations, including CHOP Specialty Care, Lancaster.
“Dr. Elias — he’s just so amazing — I can’t even express how thankful we are for him,” says Doriana.
“the whole team is amazing. we've had to rely on them for so much, and they've just been so wonderful. it's the little things. the nurses would sing to emmett, and they would get us coffee or anything we needed. we are so thankful there's a chop location in our hometown.”
Emmett was also placed in CHOP’s Infant Single Ventricle Monitoring Program, which provides specialized care for infants during the time between two necessary heart repair procedures. Doctors and nurses educated Doriana and Nate on how to identify potential risks to Emmett’s health. Doriana and Nate stayed in contact with clinicians on a weekly basis to report Emmett’s weight and oxygen levels.
When Emmett was almost 4 months old in August, his oxygen levels were dropping. He would need his second surgery (the Glenn operation), sooner than expected. In this procedure, doctors disconnected a large vein (the superior vena cava) from the heart and attached it to the pulmonary artery so that deoxygenated blood from the upper body could go to the lungs without passing through the heart. The surgery was successful, and the family was able to go home a week later.
Lymphatic system problems
In October 2016, the family faced a new challenge. Doriana and Nate were concerned when Emmett appeared to have breathing problems. Emmett was eventually diagnosed with chylothorax, an uncommon condition in which lymphatic fluid leaks into the space between the lung and chest wall. When this fluid builds up in the lungs, it can cause a severe cough, chest pain and difficulty breathing. A chest tube was immediately placed to relieve pressure on Emmett’s lung.
Yoav Dori, MD, PhD, a Pediatric Cardiologist at CHOP and Director of the Jill and Mark Fishman Center for Lymphatic Disorders is an expert in lymphatic leaks in children. He used dynamic contrast MR lymphangiography (DCMRL), an advanced imaging test, to confirm the location of Emmett’s leak, then sealed it using a procedure called thoracic duct embolization.
“Dr. Dori is amazing. He’s not only intelligent, but he’s also hilarious, which put us at ease. The whole team is just fantastic,” says Doriana.
Emmett today
Doriana and Nate continue to bring Emmett, now 1, for check-ups with Dr. Elias every other month. He will need a heart catheterization this summer for an evaluation, but he’s developing normally and is a happy baby. “I envision him as a regular kid, doing what any other kid wants to do like run around and play,” says Nate.
Emmett will need to have a third surgery (Fontan procedure) in a few years to treat his heart defect, but his medical team is pleased with his progress.
“There were so many breakthrough moments during this journey. Our initial tour of CHOP — seeing Emmett make it through his first procedure — learning about CHOP’s world-leading work with lymphatics — and more,” says Doriana.
“he's our miracle baby. without the doctors and technology at chop, emmett wouldn't be here with us right now.”
