A newborn failed her routine screening for critical congenital heart disease. What followed was a journey through one of the rarest forms of congenital heart disease, and a reminder of how a simple screening test, followed by the right clinical response, can change the course of a child’s life. The infant had been born near term by urgent cesarean delivery after concerns developed about the fetal heart rate tracing. After birth, she underwent routine pulse-oximetry screening for critical congenital heart disease and did not pass. An echocardiogram was obtained, and the findings were extraordinary: She had a type A interrupted aortic arch, an aortopulmonary window, and anomalous origin of the right pulmonary artery from the ascending aorta. Together, these abnormalities established the diagnosis of Berry syndrome. Berry syndrome is exceptionally rare; since it was first described in 1982, only about one hundred cases have been reported in the medical literature. Yet in this child, the first clue to this unusual diagnosis came from one of the most routine tests performed in a newborn nursery.
A complex circulation
Each component of Berry syndrome creates its own cardiovascular challenge. In an interrupted aortic arch, there is a complete discontinuity between portions of the aorta, compromising the normal pathway through which blood reaches the lower body. An aortopulmonary window creates an abnormal connection between the aorta and pulmonary artery. In this infant, the right pulmonary artery also arose directly from the ascending aorta instead of from the main pulmonary artery. Together, these abnormalities created a complex circulation in which maintaining adequate systemic blood flow while managing excessive pulmonary blood flow became central to the baby’s care. Prostaglandin therapy was initiated to maintain the ductus arteriosus and preserve systemic blood flow. The infant was then transferred to a pediatric cardiac surgical center, but stabilization and transfer were only the beginning.
Why not repair everything immediately?
As the infant’s clinical course evolved, pulmonary overcirculation became increasingly important. Definitive repair of Berry syndrome requires reconstruction of several major cardiovascular structures: The interrupted aortic arch must be repaired, the abnormal connection between the aorta and pulmonary artery must be closed, and the anomalously arising right pulmonary artery must be incorporated into the normal pulmonary circulation. For this small infant, the team elected to use a staged approach rather than undertake the entire reconstruction immediately. During the initial operation, bands were placed around both pulmonary arteries to restrict excessive blood flow to the lungs. This provided a way to control the pulmonary overcirculation while giving the infant additional time to stabilize and grow before undergoing a considerably more complex reconstruction. Sometimes the safest path to a complete repair begins with an incomplete one.
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Growing toward definitive repair
Following pulmonary artery banding, the infant made encouraging progress. She advanced to full oral feeding and continued to grow. Several weeks later, she was ready for definitive repair. The pulmonary artery bands were removed. The interrupted aortic arch was reconstructed, restoring continuity of the systemic circulation. The aortopulmonary window was closed. The right pulmonary artery was separated from its abnormal origin from the aorta and connected to the main pulmonary artery. The patent ductus arteriosus, which had been essential to maintaining systemic blood flow before repair, could then be divided. Postoperative imaging demonstrated an unobstructed reconstructed aortic pathway and satisfactory flow through the repaired pulmonary circulation. It was a major milestone. It was not, however, the end of her congenital heart journey.
Repair was not the end of the story
As the child grew, continued cardiac surveillance identified significant narrowing of the proximal right pulmonary artery, the vessel that had been translocated during her original reconstruction. The narrowing was treated in the cardiac catheterization laboratory, initially with balloon dilation followed by placement of a stent to improve blood flow to the right lung. The reconstructed aortic arch remained unobstructed. Later, another problem emerged: she developed progressive subaortic stenosis, an obstruction beneath the aortic valve caused by a ridge of fibrous tissue developing in the left ventricular outflow tract. Over time, the obstruction became severe enough to require another cardiac operation. The obstructing tissue was surgically resected, restoring an open pathway for blood leaving the left ventricle. Postoperative imaging demonstrated relief of the obstruction with preserved function of the heart and its valves. Once again, the immediate problem had been addressed, but the need for surveillance remained.
Repair is a milestone, not a cure
This child’s course illustrates an important principle in congenital heart disease: Successful repair does not eliminate the need for continued surveillance. Children grow, and reconstructed cardiovascular structures must function within a growing circulation. Areas of narrowing can develop, and new obstructions may emerge. Some problems can be treated through cardiac catheterization, while others may require another operation. The original anatomy may have been successfully reconstructed, but the cardiovascular system remains dynamic. For children with complex congenital heart disease, long-term surveillance is not simply follow-up after treatment; it is part of the treatment.
That distinction is particularly important when discussing congenital heart surgery with families. A successful operation can fundamentally change a child’s prognosis, but it does not necessarily end the child’s relationship with congenital heart specialists. The goal is not simply to get through an operation; it is to help that child continue to grow, develop, and thrive while identifying problems early enough to intervene when necessary.
It all began with a newborn screen
Perhaps the most remarkable part of this story is how it began. The child had an extraordinarily rare combination of congenital cardiovascular abnormalities, yet the first clue did not come from sophisticated cardiac imaging; it came from a routine pulse-oximetry screen. The screening test could not identify an interrupted aortic arch, demonstrate an aortopulmonary window, or determine where the right pulmonary artery originated. It simply indicated that something might be wrong, and that was enough to look further.
The abnormal screen led to echocardiography, which revealed the anatomy. Understanding the physiology led to prostaglandin therapy and transfer. Increasing pulmonary overcirculation led to a staged surgical strategy. Growth and stabilization created the opportunity for definitive reconstruction. Continued surveillance later identified problems requiring catheter-based and surgical intervention. The technology became increasingly sophisticated as her journey progressed, but the chain began with a pulse oximeter.
A rare diagnosis with universal lessons
Today, two years after that failed newborn screen, she is healthy and doing well. Getting there was not a straight path. She required medical stabilization and transfer soon after diagnosis, an initial operation to control pulmonary blood flow, complex reconstruction of her congenital heart defects, a catheter-based intervention for narrowing of the right pulmonary artery, and another operation when severe subaortic obstruction developed. Each intervention addressed a different problem at a different stage of her growth. Her course illustrates what modern congenital heart care can accomplish, but it also demonstrates why the system surrounding the child matters as much as any individual procedure. Her outcome depended on newborn screening, timely echocardiography, appropriate stabilization, safe transfer, congenital heart surgery, cardiac intensive care, catheter-based intervention, and continued surveillance as she grew.
Most clinicians will never care for a child with Berry syndrome. The principles that protected this child, however, apply every day: Screen carefully, take abnormal findings seriously, understand the physiology, stabilize before deterioration, connect children with the care they need, and continue watching after a successful repair. For hospitals without congenital heart surgery, this case reinforces another important point: Providing excellent care does not require every institution to provide every service. It requires the ability to recognize critical disease, initiate appropriate treatment, communicate effectively, and connect a child with specialized care when it is needed.
The diagnosis was rare. The principles that protected her were not. Today, after multiple procedures and operations during the first two years of her life, this child is healthy. She will continue to need congenital heart surveillance as she grows, but the critically ill newborn whose future was once uncertain is now a thriving two-year-old. That is perhaps the most important part of her story. A failed newborn screen was not the end of something; it was the beginning of the care that gave her a chance to grow.
Srinivasarao Badugu is a pediatric cardiologist at Driscoll Children’s Hospital in South Texas, specializing in congenital heart disease, complex cardiac interventions, and pediatric electrophysiology.
