Tetralogy of Fallot is a Rare and Complicated Heart Condition

Tetralogy of Fallot - Congenital Heart DefectsYou may have heard about someone with Tetralogy of Fallot, a rare condition marked by four defects affecting the structure of the heart. It is usually diagnosed early on, but can go undetected into adulthood in some cases.

Here we are going to discuss everything you need to know about this condition, including some background, potential causes, symptoms and treatment options…

What is Tetralogy of Fallot exactly?

The condition is named after the French physician Etienne-Louis Arthur Fallot, and affects around 1 out of every 2000 births. There are four different structural defects that occur while the heart is forming in the fetus, resulting in a low level of oxygen being transported in blood reaching the rest of the body.

The structural defects include 1) pulmonary valve stenosis, a narrowing of the valve separating the right ventricle from the pulmonary artery; 2) ventricular septal defect, which is a hole in the wall separating the right and left ventricles; 3) overriding aorta, shifted over to the right in the wrong position, and 4) right ventricle hypertrophy, a breakdown caused by an overworked heart.

There are other defects they may be present as well, but these four are the most common, which is why “tetralogy” is part of the name of the disorder. There is also a more severe version called Tetralogy of Fallot with Pulmonary Atresia, in which the pulmonary valve isn’t present at all, as opposed to just being narrower than normal in typical TOF.

What are the Tetralogy of Fallot Symptoms to be Aware of?

The symptoms of TOF will depend on how obstructed the blood flow is from the right ventricle of the heart to the lungs.

Newborns and older children will often a very noticeable blue tinge to their skin, due to the fact that there is not enough oxygen in their blood. The blueish skin is a telltale sign.

They may also experience fast breathing or shortness of breath while eating or exercising, fainting spells, getting tired very easily, moodiness, clubbed fingers and toes or heart murmur, among other symptoms. If you notice a sudden blue color in the skin or lips, that could be a sign of a fast drop in oxygen called a Tet spell. This is something that some babies with TOF experience and you should seek medical help immediately.

Doctors will typically perform several tests to confirm TOF, including an echocardio gram to get a clear picture of the heart, an electrocardiogram to monitor the electric activity, catheterization to view the structures, pulse oximetry to measure oxygen levels and a chest xray. One or more of these tests will help the doctor confirm or rule out a case of Tetralogy of Fallot.

What causes TOF to Occur and Can it Be Treated?

Unfortunately, the exact cause of Tetralogy of Fallot is unknown, although there may be some contributing factors such as poor nutritional habits and advanced age of the mother, alcohol or drug use, genetic disorder or predisposition or viral illness during pregnancy. It is also more common in those with Down and DiGeorge syndromes.

But regardless of the cause of the problem, it needs to be treated as quickly as possible to help ensure the best outcome. The only way to do this, as you might have guessed, is via surgery to correct the four defects and any others that are present.

Tetralogy of Fallot surgery may start with a temporary repair but ultimately involves open heart surgery where a patch is placed over the ventricular septal defect closing the hole between the ventricles. The pulmonary valve is also repaired, or replaced if its Tetralogy of Fallot with Pulmonary Atresia as discussed above, and the pulmonary arteries are widened to allow more blood to flow into the lungs.

These intracardiac repairs help alleviate the workload of the right ventricle, and in turn oxygen levels will rise up in the blood and symptoms of TOF should diminish as a result.

Note that Tetralogy of Fallot treatment is usually performed on babies and children, but it can be performed on adults as well if it is not detected earlier in life.

Although surgery is usually successful, there is a high likelihood of complications down the road and it’s very important that you get regular checkups from a cardiologist that specializes in congenital defects. You may need a follow-up procedure or two, depending on what was performed and how successful it was.

Some of the possible issues may include blood leaking back into the right ventricle, holes redeveloping in the wall between ventricles, arrhythmias, coronary artery disease, improper functioning of the heart or even sudden death.

That’s why regular monitoring is so crucial, as it can catch some developing issues early on and give doctors the time necessary to perform another surgery if need be.

Tetralogy of Fallot – A Summary

TOF is certainly a serious issue, but with proper corrective surgery you or your child can lead a normal life. You will require lifelong cardiologist visits to monitor the health and function of your heart and prevent/treat any complications and some physical activity may be limited based on those findings, but overall the prognosis is very good.

If you notice a blue color to your or your child’s skin at any time, and/or you see any of the other signs and symptoms of Tetrology of Fallot, make sure you call 911 as quickly as possible and have the issue addressed as quickly as possible.