How common is it?
Your baby was just born and she’s perfect! The pediatrician examines your baby and tells you that it sounds like she has a heart murmur, so he wants to order some tests to see what’s going on. The results come back that your daughter has Fallot’s Tetralogy. What is this? How serious is it? Can it be fixed?
Definition
Fallot’s Tetralogy is a rare condition that causes a person to have abnormal blood flow in their heart. It results from four structural heart defects that are present at birth (congenital). The reason these abnormalities occur isn’t known, but they take place during the formation of the heart. Certain things are thought to increase the risk of developing the disorder, such as alcoholism/poor nutrition during pregnancy, maternal age over 40, having a viral illness (ex. rubella) during pregnancy, having a parent with the condition, or the presence of Down/DiGeorge syndrome.
The first structural variation involves the pulmonary valve, which separates the upper (atria) and lower (ventricle) chambers of the right side of the heart. The valve, and sometimes the muscles beneath it, are narrowed, restricting blood flow. The restriction results in decreased blood flow to the lungs. The second alteration is a hole in the wall (septum) that separates the two ventricles. This is known as a ventricular septal defect and allows blood to move back and forth between the two chambers. This leads to deoxygenated blood from the right ventricle ending up with the oxygenated blood from the lungs in the left ventricle and vice versa. The result is that the blood in the left ventricle has less oxygen than it’s supposed to. Over time, the reduction of oxygen in the blood can weaken the heart. The third abnormality contributes to this as well. In a typically developed heart, the aorta (the main artery that comes from the heart) arises from the left ventricle. In Fallot’s Tetralogy, the aorta is attached directly above the ventricular septal defect, which means it receives blood from both sides of the heart. The last variation is when the right ventricle becomes thickened, causing it to be stiff and weak. This is called right ventricular hypertrophy and usually is the result of the heart being overworked. Some individuals with the condition also have other heart defects, like atrial septal defect (hole between the two upper chambers), abnormalities to the coronary arteries, or a right aortic arch (the aorta comes from the right ventricle).
Depending upon the severity of their defects, some individuals aren’t diagnosed until they’re adults because they don’t have noticeable symptoms. The most common symptoms are shortness of breath or rapid breathing (especially during exercise or eating), fainting, bluish color to the skin (cyanosis), tiring quickly during play/exercise, irritability, prolonged crying, heart murmur, clubbing of fingers/toes (abnormal rounded shape of nail bed), poor weight gain, and Tet spells. A Tet spell is when a baby suddenly develops deep blue skin, nails, and lips after crying/feeding or when agitated as the result of a sudden drop in oxygen. They are most common in infants between 2 – 4 months old. Toddlers/older children will instinctively squat if they’re short of breath because this increases blood flow to the lungs. If your child has difficulty breathing, bluish color to their skin, passes out, weakness, unusual irritability, or seizure, they need to be seen by a doctor. If your child turns blue, turn them on their side, pull their knees up to their chest, and call 911.
Treatment
The only way to fix Fallot’s Tetralogy is surgical. The two main options are temporary shunt or intracardiac repair. Your or your child’s doctor will help you decide which is best based on your or your child’s condition. The shunt is used to improve blood flow to the lungs in babies born prematurely or whose pulmonary arteries are underdeveloped. The shunt is used as a go-between a large artery coming from the aorta and the pulmonary arteries. Once the baby is healthy enough, they’ll need to have an intracardiac repair. This is the procedure done for individuals who are diagnosed as adults. During this operation, the shunt is removed.
An intracardiac repair usually involves several repairs completed in one surgery. It consists of closing the ventricular septal defect, fixing the narrowed pulmonary valve, and widening the pulmonary arteries. If there are any other defects, the surgeon will correct them during this operation or schedule a second procedure later to fix them. Most people do well after an intracardiac repair, but long-term complications aren’t unheard of. These can include chronic pulmonary regurgitation, other heart valve problems, ventricular septal defect repair that leaks, enlarged right ventricle, left ventricle that doesn’t work correctly, arrhythmias, coronary artery disease, aortic root dilation, and sudden cardiac death. These complications often require follow-up procedures to correct them.
Most people with Fallot’s Tetralogy can live normal lives. It’s essential that they have regular appointments with their doctor. When it comes to exercising and physical activities, your doctor can help guide what is best for you. For adults, it doesn’t usually limit career options. It’s vital to protect against infections since these could easily affect your heart. One particular area of concern is dental work or other surgical procedures. You’ll need to take antibiotics prophylactically before either of these. It’s critical to have good dental hygiene habits, such as brushing twice daily, flossing daily, and having regular dental checkups. It’s also vital to have a good care network, including support groups, family, and friends. If you’re a parent of a child with Fallot’s Tetralogy, it can be helpful to lean on your network when you need a break. You need to take care of yourself so that you can provide the best care to your child. It’s also a good idea to write down and have handy your or your child’s diagnosis, any medications taken, surgeries/dates, and doctor’s/phone numbers. If you have Fallot’s Tetralogy and are considering pregnancy, check with your doctor first. Most women don’t have any issues, but certain medications may need to be adjusted before becoming pregnant since they could be harmful to the fetus.
Prevention
Since the exact cause of Fallot’s Tetralogy isn’t known, there aren’t specific preventative techniques. If you’re pregnant, eat a healthy diet and avoid alcohol. It’s essential to prevent infections, so make sure you’re up to date on your immunizations and practice good hygiene habits (ex. washing your hands frequently and thoroughly). If you have the condition or are over the age of 40 and considering pregnancy, talk to your doctor to evaluate your risk level of having a child with the condition. By doing everything you can to minimize the risk level, your baby’s chances of being born healthy are much higher.
Finding out you or your child has Fallot’s Tetralogy can be incredibly scary. With the correct treatment, you or your child will be able to live a normal life. If you have any questions or concerns about Fallot’s Tetralogy, please speak with your doctor. If you would like more information, please visit the American Heart Association’s Tetralogy of Fallot’s page at https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/tetralogy-of-fallot