Katie’s health challenges began before she was even born. Her mother was 30 weeks pregnant when the family learned Katie had Down syndrome, also known as trisomy 21. Down syndrome is a genetic condition caused by an extra chromosome. It can cause intellectual disabilities and puts children at greater risk of developing heart disease, gastrointestinal abnormalities, musculoskeletal issues, and other medical issues.
Lori delivered Katie at Virtua Voorhees Hospital near the family’s home in New Jersey. Today, Virtua’s neonatal intensive care unit is staffed by Children’s Hospital of Philadelphia neonatologists, neonatal nurses, and other pediatric specialists.
Katie’s first few years were filled with typical milestones: smiling, grabbing things, sitting up, crawling, walking and talking. She did it all — just at a slower pace that’s customary for children with Down syndrome.
When Katie was 2 ½ months old, she began having trouble breathing and her heartbeat was irregular (arrhythmia). Lori knew something was seriously wrong; she brought Katie to CHOP for answers.
CHOP doctors diagnosed Katie with two serious heart conditions — tetralogy of Fallot (TOF) and complete atrioventricular canal (CAVC) — that would require immediate treatment.
Tetralogy of Fallot (TOF) is a congenital heart defect that refers to a combination of heart defects, including a ventricular septal defect, a hole between the lower chambers of the heart; overriding aorta, when the aorta is on top of both ventricles instead of just the left ventricle as in a normal heart; pulmonary stenosis, a narrowing of the pulmonary valve that affects blood flow from the heart to the lungs; and hypertrophy, when the right ventricle becomes thicker and more muscular than normal as a result of working harder to pump blood through the narrow pulmonary valve.
Complete atrioventricular canal is a type of heart defect in which there is a large hole in the tissue (the septum) that separates the left and right chambers of the heart. The hole is in the center of the heart, where the upper chambers (atria) and the lower chambers (ventricles) meet.
Surgeries to repair Katie’s heart
Lori and her family were overwhelmed, but felt confident the team at CHOP’s Cardiac Center could help their little girl. Over the next 12 years, Katie had three surgeries to address her complex heart defect.
In 2005, J. William Gaynor, MD, an attending surgeon in the Cardiac Center and Surgical Director of the Heart Failure and Transplant Program, closed the large hole to repair Katie’s compete atrioventricular canal with two patches, which were stitched into her heart muscle.
In 2009, Katie needed another surgery — she had developed mitral regurgitation. This time, Dr. Gaynor performed a procedure called a mitral valvuloplasty. He was able to repair Katie’s valve by closing the cleft to improve its function.
Five years later, Katie began to have issues with an arrhythmia called ventricular tachycardia. Ventricular tachycardia is an arrhythmia caused by abnormal electrical signals in the lower chambers of the heart, causing the heart to beat faster than normal, out of sync with the upper chambers. In some cases, this can be a life-threatening medical emergency.
Maully Shah, MBBS, an attending cardiologist, recommended placing an implantable cardioverter defibrillator (ICD) into Katie’s heart to regulate her arrhythmia. Once inserted, the ICD would deliver an electrical rescue shock to restore the normal heart rate if Katie had a persistent dangerously rapid heart rhythm that exceeded her preprogrammed heart rate threshold.
Coordinated care at CHOP
Katie’s complex congenital heart disease is only one of her health issues, so Lori appreciates the integrated care CHOP provides and its special attention to Katie.
“Everyone we encounter is great with Katie,” says Lori. “They always make sure she feels comfortable. If she’s upset or not cooperating, they know how to help her.”
In addition to the Cardiac Center, Katie also sees specialists from ophthalmology, nephrology, gastroenterology, pulmonary, orthopaedics, and otolaryngology, among others. With all of Katie’s specialists at CHOP, coordinating care is more streamlined. All of her doctors know Katie’s overall treatment plan and how they can help.
“CHOP is family to us — they’re always there for us. We’ve formed such close relationships with everyone — her doctors, nurses, child life team and more.”
Hope for a heart
Katie’s heart condition remained stable for some time after the ICD was implanted in 2014. In 2017, she began experiencing some new symptoms — increased fatigue and decreased appetite.
Because she has moderate to severe ventricular dysfunction and continued heart failure symptoms, Katie’s doctors consulted with her family and recommended a heart transplant. Katie is currently listed for transplant on the U.S. Organ Donor Registry and is awaiting a new heart. For now, Katie remains at home with her family. Though she sometimes tires easily, she enjoys spending time with her sister and watching her favorite action TV shows.
Katie is currently on heart failure medication called Milrinone, which she receives through a peripherally inserted central catheter (PICC). It works by increasing the heart’s contractility and decreasing pulmonary vascular resistance. Milrinone is a vasodilator which helps to improve the pumping action of the heart. Since starting this medication, her symptoms have improved. In the past, this medication was only used in an inpatient setting. Today, some patients like Katie are able to use this treatment at home once they are considered stable and meet certain criteria.