Tricuspid atresia is a rare heart defect in which the tricuspid valve is permanently closed during the development of an infant’s heart before birth. This condition rarely occurs in isolation. In other words, infants with tricuspid atresia frequently have other congenital heart defects that will also require surgical treatment. Because these problems can be complex, treatment usually begins within days of birth, to maintain adequate blood flow to the body, and may take several years. The patient will require specialized care for this form of heart defect for life. Even as an adult, he will need to be seen regularly by a cardiologist familiar with congenital heart defects.

The tricuspid valve is located between the upper right chamber (right atrium) and lower right chamber (right ventricle) of the heart. Under normal circumstances, it regulates the flow of oxygen-poor blood from the body between the right atrium and the right ventricle. From the right ventricle, blood is pumped through the pulmonic valve, into the pulmonary artery and to the lungs, where it receives fresh oxygen. In a baby with tricuspid atresia, returning oxygen-poor blood is blocked from reaching the lungs. This situation is incompatible with life, unless there is some way that oxygen-poor blood can reach the lungs and eventually be pumped out to nourish the body. Some infants are born with natural defects that allow this to happen. In other cases, physicians create temporary pathways for blood flow. Without rapid treatment, infants born with tricuspid atresia and no associated heart defects would die due to a lack of oxygen.

The most common symptoms associated with tricuspid atresia are failure to thrive and a bluish tint (cyanosis) in the skin, lips, fingernails and other parts of the body. This indicates a lack of blood flow to the lungs (a condition known as blue baby).

The condition may be diagnosed with several tests, including an electrocardiogram and an echocardiogram with ultrasound imaging. These tests may be performed shortly after birth. They may also identify tricuspid atresia before a child is born, although there is no in-utero treatment for the condition.

Children with tricuspid atresia need long-term medical and surgical treatment to survive. Almost all patients will need to undergo an initial shunt procedure to improve blood flow to the lungs. Subsequently, most patients will need to have the Fontan procedure done. This is a series of open-heart surgeries that are performed at two different stages in the young patient’s life. These surgeries restore a natural blood flow to the lungs by bypassing the right ventricle completely. Although surgery cannot rebuild the right side of the heart, children who have undergone the Fontan procedure are able to perform many normal activities.