Tetralogy of Fallot (Fallot’s tetralogy) is the name given to a congenital heart defect that is highly complex due to its various individual disorders and also frequently occurs in newborns. The defect in the cardiac septum was named after the Frenchman Dr. Étienne-Louis Arthur Fallot, who first reported this disease in 1888.
What is tetralogy of Fallot?
Tetralogy of Fallot is composed of four (tetralogy) individual diseases that occur at the same time. Disease No. 1 is a condition called pulmonary stenosis (narrowing of the pulmonary artery). No. 2 of tetralogy of Fallot is the heart wall defect, which creates a continuous connection between both heart chambers. No. 3 single disease of tetralogy of Fallot is enlargement of the heart muscle in the area of the right ventricle. Individual disease No. 4 is a malposition of the aorta. Due to the defect in the cardiac septum, oxygen-rich blood mixes with oxygen-poor blood, resulting in cyanosis. This condition is also known as “blue baby” because the skin and mucous membrane turn bluish due to the reduced oxygen supply. Tetralogy of Fallot is one of the most common heart defects in newborns.
Causes
A cause for tetralogy of Fallot is not known. Previous assumptions most likely see a genetic disposition, that is, a genetic defect or hereditary disease. Studies have shown that affected children often have a defective set of chromosomes, such as occurs in Down syndrome. In this case, a so-called chromosomal deletion 22q11 is found, a defect in the DNA, which can be detected in about 15 percent of those affected. Among other things, those affected suffer from shortness of breath because the lungs are not supplied with sufficient blood due to the defect in the heart wall and the pulmonary stenosis. The causes of the complaints can be assigned to the four individual diseases of the tetralogy of Fallot.
Symptoms, complaints, and signs
In tetralogy of Fallot, affected individuals suffer from a congenital heart defect. Typically, this defect can have a wide variety of effects on the life of the affected person, leading to various symptoms or complications. Patients often suffer from a blue discoloration of the skin or mucous membranes. If the body continues to be undersupplied with oxygen, this can also lead to a loss of consciousness and, in the worst case, to damage to the internal organs or the brain. This damage is irreversible and can no longer be treated. Furthermore, tetralogy of Fallot also leads to loud heart murmurs and permanent fatigue or exhaustion of the patient. This also significantly limits the child’s development, as the child cannot participate in strenuous or athletic activities. Likewise, the disease can lead to permanent high blood pressure, which has a very negative effect on the health of the affected person and can possibly also reduce life expectancy. If the disease is left untreated, it can also lead to sudden cardiac death. Some sufferers also suffer from psychological limitations or depression as a result of the symptoms of the disease, and are thus dependent on psychological treatment.
Diagnosis and course
The diagnosis of tetralogy of Fallot is made by the cardiologist. Since the heart defect initially manifests itself with the symptom of the “blue baby,” the conversation with the parents in particular is an important indicator for the diagnosis. In the further course, physical examinations are performed. This is followed by laboratory diagnostics and the use of imaging techniques such as X-ray, MRI (magnetic resonance imaging) and ultrasound. An ECG (electrocardiogram) provides information about cardiac activity. If these examinations confirm the suspicion of tetralogy of Fallot, the complete blood supply to the lungs and heart is then examined by means of a cardiac catheterization and a so-called angiography. In cases of suspected tetralogy of Fallot, special attention is paid to the coronary arteries as well as to the pulmonary artery. The course of tetralogy of Fallot depends mainly on the blood supply to the lungs, as they provide the oxygen supply to the body. If tetralogy of Fallot is treated in time, affected individuals have a good life expectancy.After the surgical intervention, cardiac arrhythmias may occasionally occur, as well as an increased tendency to high blood pressure in the blood vessels of the lungs. If these symptoms do not subside and the heart function deteriorates as a result, further surgery is usually unavoidable. The mortality rate for surgical therapy is less than three percent (when treating children). In adults, the mortality rate is about nine percent. Recent studies and examinations of patients showed that 90 percent of people with tetralogy of Fallot lived at least 30 years after surgery, and about 75 percent of patients lived at least 40 years after successful treatment. The long-term prognosis for tetralogy of Fallot is considered good to very good.
Complications
Due to tetralogy of Fallot, various complications can usually occur, mainly affecting the heart of the newborn. In many cases, there are unusual heart murmurs, which can lead to a panic attack in many patients. Also, the affected person’s skin often turns blue, leading to what is known as cyanosis. Complications can occur when the organs are no longer supplied with sufficient oxygen. In the worst case, irreversible damage to certain organs occurs. The cardiac arrhythmia can be treated by surgical intervention. In most cases, heart surgery proceeds without complications and the symptoms of tetralogy of Fallot can be greatly reduced. Complications still occur if the treatment is not performed directly in the first year. In this case, life expectancy is further reduced by tetralogy of Fallot. Patients can no longer perform sports as usual because of the heart defect and are severely limited in their daily lives.
When should you see a doctor?
Tetralogy of Fallot must be treated by a physician in all cases. If no treatment of the disease occurs, it can lead to the death of the patient in the worst case. An examination by a physician is necessary if the affected person suffers from breathing difficulties and furthermore also from a blue discoloration of the skin. This can also lead to a loss of consciousness in the patient. In this case, an emergency doctor must be called. Until the arrival of the emergency physician, calm breathing and a stable lateral position of the patient should be ensured. In emergencies, the patient should be given emergency artificial respiration. Furthermore, a visit to the doctor is also necessary if the patient suffers from loud heart murmurs or pain in the area of the heart. Persistent fatigue or lassitude may also be indicative of the disease and should be investigated if the symptoms occur over a prolonged period of time. Usually, tetralogy of Fallot can be diagnosed by an internist or by a cardiologist. The treatment itself is then performed by surgical intervention. In most cases, if it is detected early and treatment is successful, the patient will not have a limited life expectancy.
Treatment and therapy
Tetralogy of Fallot is usually treated by surgical intervention. Whereby, the earlier the surgery is performed, the better the chances of cure. Studies have shown that surgery should be performed within the first year of life. The treatment of tetralogy of Fallot involves several steps. In newborns as well as in infants, a so-called balloon dilatation is performed at the beginning. This is an attempt to dilate the narrowed heart valve, which lies between the right ventricle and the pulmonary artery. This ensures an improvement in blood flow, which leads to a higher oxygen saturation in the blood. Since tetralogy of Fallot consists of four individual diseases, it is important to treat all four diseases during surgery. In addition to the previously mentioned dilatation, defects in the cardiac septum are closed. The malposition of the aorta is corrected and the enlargement of the heart muscle in the area of the ventricle is examined and corrected if necessary. Surgical treatment of tetralogy of Fallot is now considered a routine procedure.
Outlook and prognosis
The prognosis for congenital tetralogy of Fallot is relatively good, thanks to current medical knowledge. This was not always the case. This complex heart disease, the consequences of which are serious, can now be treated surgically.To ensure the greatest possible success of the operation, it is important that the surgery is performed in the first year of life. If the operation is successful, the chances of survival after 30 years are as high as 90 percent. About three quarters of the babies operated on live to see their fortieth year. However, this also means that for a quarter of those operated on with fallotian tetralogy there was no further possibility of survival. Since fallotian tetralogy accounts for about ten percent of all congenital heart defects, the surgical procedures successfully used today have been refined over time. This has considerably improved the prospects for prolonged survival. Nevertheless, the condition is so complex that some of the affected children do not survive surgery. When adults with tetralogy of Fallot are operated on, the postoperative mortality rate is higher. Prognosis is thought to depend on pulmonary perfusion. In some cases, two surgical procedures are necessary. As a postoperative complication, cardiac arrhythmias may occur years later due to the formation of scar tissue in the cardiac region. Lifelong medical monitoring is essential in those affected with fallotian tetralogy.
Prevention
Because the cause of tetralogy of Fallot is largely unknown and is thought to be due to a genetic defect, preventive measures can be taken only to a limited extent. Pregnant women can take advantage of so-called genetic counseling during general examinations. Furthermore, there is the so-called prenatal diagnostics, in which, among other things, a heart defect can be detected by means of ultrasound. If there is a family history of tetralogy of Fallot, pregnant women should choose a clinic for the birth that has a cardiology department for children. Currently, there is the so-called maternal hyperoxygenation study, which is testing whether targeted oxygen therapy during pregnancy can prevent tetralogy of Fallot.
Follow-up
In most cases of tetralogy of Fallot, patients have no particular options for aftercare. In this case, affected individuals are primarily dependent on treatment of the heart defect to prevent further complications and premature death. Self-cure cannot occur, although early diagnosis with early treatment can have a positive effect on the further course. Tetralogy of Fallot is usually treated with surgery. This usually proceeds without complications and leads to a significant improvement in symptoms. After the operation, the patient should rest and take it easy on the body. They should refrain from strenuous, stressful or sporting activities in order not to put unnecessary strain on the heart and circulation. Furthermore, even after a successful operation, regular checks and examinations by a doctor are advisable in order to monitor the heart. Further possibilities of aftercare are not available to the affected person and are usually not necessary in the case of tetralogy of Fallot. In general, a healthy lifestyle with a healthy diet also has a positive effect on the course of this disease. After the successful surgery, the body can be stressed again as usual.
What you can do yourself
The options for self-help are very limited in tetralogy of Fallot. Surgical intervention represents the best chance of success for a cure. Therefore, the guidelines of the medical profession must be followed. In addition, to alleviate physical discomfort, overexertion should be avoided and general stress should be kept to a minimum. As soon as heart problems occur or blood pressure rises, keep calm and take a break. Weight should be within the normal range according to the BMI and overweight should be avoided. A healthy diet and regular exercise stabilizes the immune system and helps build up defenses. The basic rule is to refrain from exertion of any kind. Relaxation techniques are helpful for mental relief. They strengthen the psyche and reduce stress. With yoga, meditation or other relaxation exercises, an inner balance can be achieved and new mental strength can be built up. With an optimistic basic attitude, the well-being is additionally improved and the chances of healing increase. If disturbances of the blood circulation are noticed, immediate action should be taken.Purposeful movements of the hands, fingers, feet or toes prevent cold exposure due to lack of circulation. If heart palpitations occur, physical activities should be minimized. Adequate sleep and regular breaks from daily activities will improve existing health.
