agenesis of the superior vena cava

Agenesis of the superior vena cava is a rare congenital condition in which one or both of the major veins that carry blood from the upper body to the heart are missing. In many cases, when only one side is absent, people do not experience symptoms and the heart appears normal. The condition is generally found by accident during imaging studies performed for other reasons. When both sides are absent, the condition is more likely to be seen along with other congenital heart problems, such as tetralogy of Fallot or an atrial septal defect. In these cases, the absence of the SVC may lead to symptoms of SVC syndrome, where the normal blood flow back to the heart is disrupted.

People with unilateral agenesis often do not have noticeable symptoms. However, when both sides are absent, symptoms related to SVC syndrome may occur. These symptoms might include swelling in the upper body and other signs of impaired blood flow. Information about specific symptoms is currently limited for this condition.

Agenesis of the superior vena cava is a congenital anomaly, meaning it is present at birth. It occurs due to abnormal development of the great veins during fetal growth. When only one side is affected, the condition usually occurs on its own; when both sides are absent, it is more often associated with other congenital heart issues. There is no known genetic cause at this time.

Information about treatment is currently limited for this condition.

The outlook for people with agenesis of the superior vena cava can vary. Many individuals with unilateral agenesis lead normal lives without complications. For people with bilateral agenesis, especially when other congenital heart anomalies are present, closer follow-up and management are important. Information about long-term outcomes is currently limited for this condition.

Information about research is currently limited for this condition.