Abby, who is 1½, doesn’t know that this fun is serious: doctors and other specialists are keeping close watch for developmental delays.
As a group, children with complex congenital heart disease (CHD), like Abby, have a higher likelihood of experiencing problems related to neurodevelopmental issues compared to children without CHD.
Diagnosis: Double inlet left ventricle
Abby has been a patient of CHOP’s Cardiac Center since before she was born. Her mother, Tara, was 16 weeks pregnant when a routine fetal ultrasound showed an irregularity in her baby’s heart. She and her husband Adam were referred to the Fetal Heart Program at the Cardiac Center. The program provides highly specialized expertise in diagnosing and managing heart conditions before birth.
Jack Rychik MD, director of the Fetal Heart Program, confirmed that Abby had a complex congenital heart defect in which only one of the heart’s two lower pumping chambers (ventricles) is developed enough to function adequately.
The condition, known as double inlet left ventricle, is so complex that the overwhelming majority of babies with this diagnosis do not reach their first birthday without some form of treatment.
The treatment for double inlet left ventricle that Abby needed to survive required a series of cardiac surgeries to reconstruct her tiny heart and re-route circulation. Surgery does not give children with double inlet left ventricle a normal circulation, but it does allow their heart to better pump blood to their lungs and the rest of their bodies.
A special delivery unit
For the rest of the pregnancy, Tara and Adam returned to CHOP monthly for visits with the Fetal Heart Program, allowing the medical team to carefully plan for Abby’s arrival and care. There they discovered yet another reason to be grateful they’d come to this world-renowned children’s hospital: the Garbose Family Special Delivery Unit (SDU).
The SDU is the world’s first birthing facility dedicated exclusively for mothers carrying babies with known birth defects, such as double inlet left ventricle. The SDU allows these infants to be born within a pediatric hospital where the highest level of care is available from the moment of birth.
Moms stay in comfortable, private rooms that are just steps away from the operating rooms and intensive care units in which their babies will be treated and cared for during recovery.
On Oct. 6, 2008, with Adam at her side, Tara gave birth to Abby at the SDU at CHOP. The Cardiac Center team was waiting to stabilize the baby and immediately transport her to the Evelyn and Daniel M. Tabas Cardiac Intensive Care Unit (CICU), where Tara could visit any time.
“It made a huge difference to be with Abby as much as I could,” she recalls.
At 3 weeks of age, Abby’s condition deteriorated. She was feeding poorly and had low oxygen levels in her blood. She was seen by a cardiologist and the decision was made to admit her to the CICU. A follow-up echocardiogram showed a tumor, called an atrial myxoma, growing rapidly in her heart’s right atrium. The tumor, combined with the double inlet left ventricle, was responsible for a very rapid heart rate.
The next day, Thomas Spray, MD, chief of Cardiothoracic Surgery at CHOP, performed open heart surgery to remove the tumor and placed a shunt to improve Abby's oxygen levels. She recovered quickly with a rapid improvement in her feeding, growth and oxygen levels.
To treat her double inlet left ventricle defect, Abby had a second operation at 5 months of age, and will have a third when she is 3 years old.
Cardiac Kids Developmental Follow-up Program
Abby's relationship with CHOP is just beginning. She is among the first participants in the Hospital's Cardiac Kids Developmental Follow-up Program. The Program was created in 2009 in response to research at CHOP and other institutions that showed that children with complex CHD, such as double inlet left ventricle, are at higher risk of neurodevelopmental and behavioral difficulties compared to children without CHD. This program brings together an interdisciplinary group of practitioners to provide screening, evaluation and ongoing coordination of care for children with CHD who are at risk for these issues.
During her twice-yearly visits to the Cardiac Kids Program, Abby sees a developmental pediatrician, a physical therapist, an occupational therapist, a speech and language pathologist, a neurologist, and a cardiologist.
The team evaluates her motor skills, muscle tone and developmental benchmarks such as speech. The family also meets with a social worker for psychosocial support and to learn about resources in their own community. Abby will also continue to see her cardiologist each year as she grows.
Advances in treatment
For Tara and Adam, the CHOP program means peace of mind.
“The sooner they catch certain things, the more treatable they are and the better quality of life she’ll have.”
For any parent, watching a child born with a severe heart defect grow and thrive is a joy. For Tara, the process has been bittersweet. Back in 1980, well before Abby was born, Tara’s younger sister Erin was born with double inlet left ventricle, the same congenital heart condition as Abby. But Erin did not live to see her fourth birthday.
For Tara, seeing Abby happy and thriving today embodies the incredible advances in cardiac care since Erin’s death.
“I look at the progress research has made over the last 30 years right in the face every day,” Tara says.
And as Abby makes her own progress, CHOP will be with her every step of the way.
Originally posted: October 2010
Updated: January 2013