Fallot tetralogy

This congenital heart and vascular disease essentially include a ventricular septal defect, right ventricular hypertrophy, narrowing of the pulmonary artery, and aortic defect. In many cases, at least three defects are present, not all four may always be present, but even in this case it is a relatively serious heart disorder. This disease has several manifestations, depending on which defects are present in the affected person. Each of them causes a different type and kind of problem in the body.

Narrowing of the pulmonary artery reduces blood flow to the lungs, an opening in the interventricular septum causes the mixing of oxygenated and deoxygenated blood, a defect of the deploying aorta causes lack of oxygen in oxygenating the whole organism and enlargement of the right ventricle. The disease is usually treated directly surgically as soon as the diagnosis is avoided to avoid further complications.

The disease is congenital, with a combination of genetic predispositions and various external influences often playing a role. Among genetic factors, the disease can be caused by chromosomal aberration, such as Down syndrome or similar diseases, external influences are very risky alcohol consumption during pregnancy or maternal smoking during pregnancy, which has other negative effects.

The vast majority of symptoms of the disease are related to problems with oxygenation of the body due to defects in the heart and surrounding blood vessels. The most common symptom is total cyanosis, ie blueing of the skin due to insufficient oxygen supply. In addition to the skin, the lips, mucous membranes of the oral cavity, or nail beds can also turn blue, with the blueing appearing most after some major physical performance. It is accompanied by weakness, disturbances of consciousness, fainting, sometimes even loss of consciousness.

One of the symptoms of the disease is also shortness of breath and difficulty breathing, again after more physical exertion, when it is necessary to better oxygenate the muscles in the body. Heart murmurs may also occur. A child can sometimes have so-called clubbed fingers. Uncommon, but one of the possible symptoms is the overall failure to thrive when especially the physical and weight development of the child is not within the norm. In adults, weight loss can sometimes occur.

The disease is examined on the basis of the observation of symptoms, while the X-ray imaging of the chest is important, but also magnetic resonance imaging, which can focus on anatomical defects of the heart and large vessels. In addition, cardiac overload is examined by ECG, ultrasound of the heart and large vessels is examined by echocardiography, and more complicated diseases can also be examined by angiogram. This applies in particular to the examination of the pulmonary vascular bed.

The disease can usually be seen after birth and in childhood. With greater physical exertion, the symptoms and manifestations become more intense, especially the bluing of the skin and mucous membranes and difficulty breathing. They may temporarily retreat during the rest period. However, the murmur of the heart may be present on a regular basis, as may the general failure or weight loss that both a child and an adult with Fallot tetralogy may suffer. If left untreated, the disease can lead to various infections in the heart, which directly threatens the patient's life.