What are the other Names for this Condition? (Also known as/Synonyms)

• Congenital Heart Defect-TAPVR
• TAPVR (Total Anomalous Pulmonary Venous Return)
• Total Anomalous Pulmonary Venous Connection (TAPVC)

What is Total Anomalous Pulmonary Venous Return? (Definition/Background Information)

• Congenital heart defects are relatively common birth defects involving the heart, and these may be of several types. Total Anomalous Pulmonary Venous Return (TAPVR) is a critical congenital heart condition, in which the pulmonary veins, that carry blood from the lungs to the heart, are attached to the right atrium of the heart, instead of the left atrium. This results in the blood circulating just between the heart and lungs, rather than being pumped out to the rest of the body
• Certain genetic aberrations, pre-existing heart conditions, a family history of heart anomalies, and exposure to unfavorable environmental factors are considered to be risk factors for Total Anomalous Pulmonary Venous Return. The exact cause of TAPVR is presently not well-understood
• The signs and symptoms of Total Anomalous Pulmonary Venous Return may become apparent right after birth, or several weeks later. These include a bluish discoloration of the body, rapid or erratic heartbeat, difficulty breathing, poor feeding, and consequent poor growth. Heart failure, pulmonary hypertension, frequent respiratory infections, and arrhythmias are some potential complications of TAPVR
• Total Anomalous Pulmonary Venous Return is diagnosed based on the physical examination, appearance of the affected baby, symptoms (such as aberrant heart rhythm), electrocardiography (ECG), fetal echocardiography, and imaging tests (including X-ray and magnetic resonance imaging scans), as needed
• Surgical repair at the earliest possible time is the treatment option for correcting the anomaly with the pulmonary vein connection. Currently, there are no protocols or guidelines available to prevent the condition from occurring
• The prognosis of Total Anomalous Pulmonary Venous Return is determined by how soon corrective surgery is performed, and whether there are obstructions in the repair to free flow of blood in the heart. Delay in surgery and blockages can lead to poor outcomes

Who gets Total Anomalous Pulmonary Venous Return? (Age and Sex Distribution)

• The incidence rate of Total Anomalous Pulmonary Venous Return (TAVPR) is about one in every 8,000 to 10,000 live births
• The signs and symptoms of TAVPR typically manifests soon after birth. In some cases, however, symptoms may not start appearing until several weeks later
• Both male and female babies are affected
• Worldwide, no specific racial or ethnic group predilection is noted

What are the Risk Factors for Total Anomalous Pulmonary Venous Return? (Predisposing Factors)

The exact risk factors for Total Anomalous Pulmonary Venous Return (TAVPR) are not known. Research is being actively conducted to understand possible risk factors for TAVPR. 

However, the following factors are believed to contribute to the occurrence of TAPVR:

• Genetic predisposition: Individuals with certain single gene mutation disorders, such as Noonan syndrome, Ivemark syndrome, and Holt-Oram syndrome, are also known to have TAPVR
• Chromosomal aberrations: TAVPR is reported in individuals with higher frequency with chromosome 22 partial trisomy
• Existence of other heart conditions
• A family history of heart structural abnormalities
• Exposure of the pregnant woman to environmental toxins and certain medications

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Total Anomalous Pulmonary Venous Return? (Etiology)

The exact cause of development of Total Anomalous Pulmonary Venous Return (TAPVR) is presently not well-established. It may develop from a combination of factors that may be genetic and environmental. It is also believed that what the expectant mother consumes, such as food, drink, or even some medications, may be contributive.

• Whether the cause is genetic or environmental or both, it affects the connection of the pulmonary vein to the heart. Based on how the pulmonary veins connect, TAPVR is categorized into the following three types:
  • Supracardiac TAPVR
  • Cardiac TAPVR
  • Infracardiac TAPVR
• Normally, there are four pulmonary veins that carry blood from the lungs into the left atrium of the heart
  • Under normal circumstances, the pulmonary vein from the lungs brings blood to the left atrium (upper chamber) of the heart, so it can be pumped to the rest of the body
  • In TAPVR, there is a structural defect because of which the pulmonary vein gets connected to the right atrium. This leads to the blood circulating between the heart and lungs only, and not throughout the body
  • In most babies with TAPVR, a hole between the right and left atrium, known as atrial septal defect or patent foramen ovale, lets the blood to flow into the left atrium and therefore the rest of the body, allowing the infant to live
• The abnormal circulation leads to oxygen poor blood being delivered to the body causing cyanosis

What are the Signs and Symptoms of Total Anomalous Pulmonary Venous Return?

The following are some of the signs and symptoms of Total Anomalous Pulmonary Venous Return:

• Cyanosis - a bluish discoloration of skin of the newborn 
• A weak pulse and abnormal heart sounds upon physical examination
• Rapid or erratic heartbeat
• Difficulty in breathing 
• Poor feeding
• Poor weight gain
• Extreme lethargy or sleepiness

Note: In some cases, TAPVR may not be detected for several months after birth.

How is Total Anomalous Pulmonary Venous Return Diagnosed?

Total Anomalous Pulmonary Venous Return (TAPVR) may be diagnosed with the help of the following:

• A thorough physical examination and an evaluation of one’s family medical history
• Assessment of the presenting signs and symptoms, particularly pale skin of the child, breathing difficulties, weakness, and pounding heart
• Electrocardiogram (EKG) to check for signs of heart enlargement
• Fetal echocardiogram to produce images of the heart
• Newborn pulse oximetry screening may help the healthcare suspect the condition prior to symptom presentation
• Chest X-ray and magnetic resonance imaging (MRI) to understand the structural defects of the heart and to check for fluid accumulation around the organ
• Cardiac catheterization

Note: In some cases, TAPVR may be suspected during a fetal ultrasound. However, owing to the difficulties in viewing the pulmonary vein clearly, the condition is usually not diagnosed till after birth.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Total Anomalous Pulmonary Venous Return?

The potential complications from Total Anomalous Pulmonary Venous Return include:

• Risk of frequent infection in the lungs
• Difficulties with breathing
• Irregular heart rhythms, known as arrhythmias
• Pounding heartbeats
• Heart failure, which can be fatal
• Treatment and post-surgery complications

How is Total Anomalous Pulmonary Venous Return Treated?

Total Anomalous Pulmonary Venous Return is treated using the following methods:

• Surgically, the heart abnormality should be corrected as soon as possible. In this surgery, the proper connection between the pulmonary vein and left atrium is established in order to restore normal blood flow through the heart
• Surgical repair of atrial septal defect (if present)
• Medications to help the child heal post-surgery

A lifelong follow up with a cardiologist will be required for infants who undergo corrective surgery, in order to monitor the heart function.

How can Total Anomalous Pulmonary Venous Return be Prevented?

Currently, there are no methods or guidelines available towards preventing Total Anomalous Pulmonary Venous Return.

• Detecting early signs and symptoms combined with a timely diagnosis, holds the key to managing the disorder
• Avoid non-prescriptive medications during pregnancy that may harm the fetus
• Folic acid intake: Tests and researches have proved that sufficient intake of folic acid decreases the risk for birth defects
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Total Anomalous Pulmonary Venous Return? (Outcomes/Resolutions)

The prognosis of Total Anomalous Pulmonary Venous Return is determined by how soon corrective surgery is performed, and if there are other blockages in the new connection.

• In case of a blockage in the repaired connection, the prognosis may be unfavorable/poor
• Delay in performing surgery can also lead to poorer outcomes
• The prognosis may also depend on the existing/underlying genetic abnormalities, if any present

Children may present lifelong complications following surgical correction of the abnormality.

Additional and Relevant Useful Information for Total Anomalous Pulmonary Venous Return:

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/healthy-living/heart-center/