Hypoplastic Left Heart Syndrome: Siena's Story
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For most kids, spending their first birthday in the hospital would be less than ideal. For Siena — who was born with congenital heart disease and had spent most of the past year at Children's Hospital of Philadelphia (CHOP) — it somehow seemed appropriate. "She got to celebrate surrounded by her favorite people: her family and the nurses, doctors and anesthesiologists who helped us reach this huge milestone," says Siena's mom, Carissa.
Two days later, Siena was medically cleared to return home to Long Island, NY, with her family. By the weekend, the family got to celebrate Siena's birthday again — this time with extended family and friends who'd been praying for the little girl's recovery for more than a year.
Now 14 months old, Siena enjoys reading pop-up books with her parents, Carissa and Angelo. She loves music and sways her shoulders when her grandparents sing to her. And she is fascinated by everything her 2 ½-year-old sister Mariella does. Siena’s upbeat and serene demeanor, as well as her tender age, do not show the many challenges she has already overcome.
Diagnosis before birth
The first hint of trouble occurred before Siena was even born. At Carissa's 20-week prenatal ultrasound, the clinician couldn’t get full images of the baby's heart and recommended Carissa see a high-risk obstetrician and a pediatric cardiologist.
When Carissa met with a pediatric cardiologist at her local hospital, she says, “he seemed surprised at what he was looking at.” The cardiologist told Carissa and Angelo that their unborn baby had multiple "holes," known as ventricular septal defects (VSDs), in the lower chambers of her heart. The left side of her heart was also smaller than normal — potentially indicating a variant of hypoplastic left heart syndrome (HLHS), a serious cardiac defect that makes it harder for the heart to pump oxygenated blood to the rest of the body.
Carissa and Angelo wanted to know what they could do to give their baby the best chance for survival. The cardiologist recommended a fetal heart specialist. After doing their research, the couple decided to go to Children’s Hospital of Philadelphia.
“We wanted to go to the best facility for cardiology, where the best doctors were. We found that at CHOP. ”
Coming to CHOP, planning next steps
Within two weeks, the couple was at CHOP meeting face to face with Cardiologist Michael D. Quartermain, MD, of CHOP’s Fetal Heart Program. Dr. Quartermain confirmed the still developing fetus had multiple ventricular septal defects (VSDs), and mild HLHS.
For the remainder of Carissa's pregnancy, doctors at CHOP and back home on Long Island jointly managed her care. Carissa had regular prenatal checkups at home, and once a month drove to CHOP so the team here could evaluate the baby’s heart.
When Carissa entered her third trimester, doctors met with her and Angelo to plan for Siena's birth. While VSDs can sometimes close on their own, HLHS can be fatal if not treated soon after birth. To ensure the baby had the immediate medical support she needed, doctors recommended Carissa give birth in CHOP's Garbose Family Special Delivery Unit (SDU), the first birth facility in a pediatric hospital for mothers carrying babies with known birth defects.
Support for the whole family
On Aug. 10, 2017, doctors induced labor and Siena was born. Immediately, the cardiac team assessed Siena, began monitoring her heart and providing supplemental oxygen, the first of many therapies and interventions. Siena was then transferred to the Cardiac Intensive Care Unit (CICU).
More About HLHS
Siena had difficulty feeding. The very act of vigorously sucking was taxing to her heart and, at times, she would choke or have difficulty breathing with eating. To ensure Siena was safely absorbing the nutrients she needed to grow, her care team at CHOP decided to insert a nasogastric (NG) tube to deliver food directly to her stomach. As doctors worked to stabilize Siena's condition, her parents took classes at the hospital to learn how to care for her at home, including how to deliver medications and place her NG tube for feedings. After nearly a month in the hospital, Siena went home.
Once back home, Siena’s care was jointly managed by CHOP specialists and her local pediatricians. Her local doctors tracked her development, and each month Siena returned to CHOP for appointments with Dr. Quartermain to monitor her heart function and any changes.
Surgery, ECMO and more surgery
When Siena was 5 months old, it became clear her VSDs were not closing on their own and would need surgical repair. In January 2018, Siena's family brought her back to CHOP for open heart surgery with Thomas Spray, MD, an internationally renowned cardiothoracic surgeon.
Dr. Spray successfully closed four VSDs, but discovered many more than originally suspected. He described Siena’s heart as looking like "Swiss cheese." He couldn't see how many VSDs she had or where some of the holes were tunneling to.
Hours after surgery, Siena’s heart was not functioning well. To save her life, Christopher E. Mascio, MD, put Siena on extracorporeal membrane oxygenation (ECMO), a cardiopulmonary bypass technique that provides long-term breathing and heart support. Siena remained on ECMO for eight days, but when doctors finally did remove mechanical support, she was able to breathe on her own.
As the weeks went by at the hospital, Siena continued to struggle medically. She developed recurring pneumonia due to reflux, and she was not gaining weight. To protect her lungs, Michael L. Nance, MD, performed a Nissen fundoplication, a surgery to tie a piece of Siena’s stomach around her esophagus to keep formula or liquids out of her lungs.
Over the next two months, doctors performed several additional procedures with the goal of stabilizing Siena's health enough so she could go home. These included a cardiac catheterization with Jonathan J. Rome, MD, to close her residual VSD, and a pulmonary artery (PA) band surgery with Dr. Spray to restrict blood flow and reduce pressure in her lungs.
Finally, on April 1, Siena was well enough to leave CHOP and go home. A week later she developed respiratory syncytial virus (RSV), a common respiratory infection that typically causes mild cold symptoms, but instead sent Siena to the hospital for 10 days because her body couldn't fight the infection on its own.
Heart failure
In May, Carissa and Angelo brought Siena back to CHOP for a follow-up appointment. Instead of returning home afterward, Siena was admitted to the hospital. Dr. Rome performed another cardiac catheterization and discovered Siena was in heart failure.
Immediately, Siena was placed on medication to help her pulmonary system. In the following weeks, Dr. Rome performed multiple cardiac catheterizations to measure the pressures inside her heart so doctors could adjust her medication to better control her symptoms.
In July, Dr. Rome discovered a new problem: Siena had developed pulmonary vein stenosis, a narrowing in one of the veins leaving the heart. He placed a balloon stent to improve blood flow to that area.
Siena spent her first birthday at CHOP. On Aug. 12, 2018, Siena returned home and hasn't been hospitalized since.
Hope for the future
In contrast to her dramatic first year, Carissa describes Siena as a very calm baby. “Siena is an old soul. She's always smiling and is very playful. She goes with the flow,” says Carissa.
Siena’s medical journey is far from over, but she is doing well now. She is gaining weight, starting to talk, and is on the verge of walking. She receives early intervention services at home: physical therapy twice a week and speech therapy once a week. And every two to four weeks she returns to CHOP for an echocardiogram. Doctors are monitoring at least three significant VSDs in Siena's heart, but know there could be additional smaller holes.
Carissa and Angelo anticipate Siena will need another cardiac surgery in the future. Doctors may replace a pulmonary artery band, and will likely work to close additional VSDs.
Dr. Mascio will have a 3-D model of Siena's heart before surgery so he can see the exact location and size of the holes. Being able to practice before surgery allows doctors to be more efficient during surgery, limit Siena's time on bypass, and reduce surgical risks.
Carissa says she is hopeful for Siena’s future. “I used to be afraid to think about the future for her, but Siena has come so far," Carissa says.
“We want her to live a healthy, long life; to be happy and healthy.”
