Diagnosis
A heart ultrasound, called an echocardiogram, is needed to diagnose total anomalous pulmonary venous return (TAPVR). A healthcare professional also listens to the heart and lungs. A whooshing sound, called a heart murmur, may be heard.
Different tests that may be used to help diagnose TAPVR include:
A chest X-ray can show changes in the heart and lungs. A chest X-ray may look different depending on whether blood flow from the lungs is blocked. In obstructed TAPVR, the X-ray may show fluid buildup in the lungs. In unobstructed TAPVR, the heart may appear enlarged, and the blood vessels in the lungs may look more prominent.
In supracardiac TAPVR, an X-ray may sometimes show a rounded shadow above the heart. This is caused by the enlarged heart and the blood vessels above it that are not typical. This is sometimes called the snowman sign because the outline can look like a snowman.
An echocardiogram is the test used to diagnose total anomalous pulmonary venous return. It uses sound waves to create images of the heart as it beats. An echocardiogram can show the pulmonary veins, any holes in the heart and the size of the heart chambers. It also shows blood flow through the heart and heart valves.
Other tests such as an electrocardiogram or a CT scan may be done if more information is needed.
Diagnosis of TAPVR before a baby is born can be challenging. Prenatal ultrasound may suggest certain heart conditions. Sometimes, if TAPVR is suspected, a fetal echocardiogram may be done to help confirm the diagnosis. But TAPVR is not commonly detected during pregnancy. It is hard to see the pulmonary veins on prenatal screening tests because not much blood flows to the lungs before a baby is born.
Treatment
Total anomalous pulmonary venous return (TAPVR) is treated with surgery. The surgery usually is done when a child is a baby. The timing of surgery depends on whether there's a blockage. If there is a blockage, surgery may need to be done very soon after birth.
To repair the heart, surgeons create a connection that allows the pulmonary veins to drain into the left atrium. Surgeons also may close the atypical pathway and close the hole between the upper heart chambers when needed.
One surgical technique that may be used is repair without sutures. Sutureless repair avoids placing stitches directly in the pulmonary veins. Instead, the surgeon attaches the left atrium to the tissue surrounding the pulmonary veins. This approach may cause less injury and scarring in the veins and help lower the risk that they will become narrowed after surgery.
Most infants do well after surgery. Monitoring is important right after surgical repair to make sure the heart and lungs are working well.
Prognosis
Most people have good long-term outcomes after treatment for TAPVR.
A person with TAPVR needs regular health checkups for life to check for blockages or irregular heartbeats. A doctor trained in congenital heart disease should provide care. This type of healthcare professional is called a congenital cardiologist.
Coping and support
Caring for a child with TAPVR can involve ongoing medical appointments and monitoring, even after surgery. Staying connected with your child's cardiology team can help you understand follow-up care, safe activities and any symptoms to watch for.
As children with congenital heart disease grow, paying attention to their emotional and behavioral health can be an important part of their overall care.
It's also important for caregivers to look after their own well-being and seek support when needed.