Congenital heart disease

Congenital heart disease

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Congenital heart defects are anatomical defects of the heart, its vessels, or the valve apparatus. Congenital heart defects occur in utero, the defects caused by them can be either isolated from each other, or combined with each other.

With heart defect, blood flow changes and myocardial insufficiency of the heart chambers develops. This is due to a violation of the normal development of large vessels and the heart. Congenital heart defects are a fairly broad group of diseases. This group includes both relatively mild forms and those conditions that are incompatible with life.

There are many factors that affect your risk of developing congenital heart defects. These include genetic predisposition, mother's age, her susceptibility to viral diseases during pregnancy, and others. The greatest risk of developing severe heart disease in the fetus is during the first two months of pregnancy.

Prevention of congenital heart disease is multifaceted and rather complicated. It includes both the prevention of the disease itself and the prevention of the development of complications. The first is mainly in medical genetic counseling. In order to prevent the unfavorable course of the disease, as well as the development of complications, it is necessary to timely diagnose congenital heart disease, timely treatment and proper care of the child by the parents.

Complications of congenital heart disease include bacterial endocarditis, polycythemia, and pulmonary complications. It is advisable to coordinate the professional plans of a patient with congenital heart disease with a specialist (with a cardiologist), as well as the expected physical activity on the body.

Pregnancy in women who are diagnosed with congenital heart disease, in most cases, is associated with the risk of complications. Therefore, consultation with a specialist on all matters is strictly necessary and preferably in advance.

Diagnosis of congenital heart disease is multifaceted and complex. At the initial stage, it includes X-ray examination of the heart and lungs, ECG, echocardiography. Further examination is selected individually for each patient.

Congenital heart defects develop even before a baby is born. You can even say that long before birth, since such a heart defect forms in the fetus during the period from the second to the eighth week of development. Congenital diseases are diseases that develop before the birth of an infant or during childbirth, such diseases are not necessarily due to heredity. Signs of a congenital defect can be observed either immediately after the birth of a child, or the congenital defect is hidden.

Congenital malformations are one of the causes of infant mortality. This disease occurs in six to eight newborns out of a thousand and ranks first in infant mortality. Infant mortality is the mortality of newborns and children under one year of age. Most children born with heart defects die during the first year of life - the first month is especially dangerous. By the age of one year, mortality from heart disease decreases significantly, and approximately 5% of children die between the ages of one and fifteen. There is evidence that congenital heart defects make up approximately 30% of all the malformations encountered.

The causes of congenital heart defects are unknown. This applies to congenital defects of the entire cardiovascular system. If a family has one child diagnosed with congenital heart disease, then the likelihood of having other children with congenital heart disease slightly increases. But this figure is still small and equal to 1-5%.

Geographic area and season affect the risk of developing congenital heart disease. Such judgments are more likely assumptions than scientifically based facts. Thus, there have been cases that in a particular geographic zone the number of children born with heart defects exceeds the same number in other zones. As for the seasonality, there are also some regularities. Some studies have shown that open arterial defect (Botall's defect) develops in a greater number of cases in girls who were born in the period from October to January; in addition, in the autumn months, the birth of boys with congenital coarctation of the aorta is least likely - this probability increases in the spring months. Such seasonal fluctuations in the development of congenital heart defects can be associated with viral epidemics. The influence of environmental factors that have an adverse (teratogenic) effect on the developing fetus on the development of congenital heart disease is also not excluded. Science has substantiated the adverse effects on the body, including the development of congenital heart disease, rubella virus in the fetus. The most dangerous for the fetus are viruses, whose effect occurs in the first three months of pregnancy.

The viral agent is decisive in terms of the development of congenital heart disease. This is not entirely true. An existing viral disease does not mean that the child will be born with a heart defect. Congenital heart disease can form under the influence of additional factors. These include the severity of the disease, which is of a viral or bacterial nature; hereditary predisposition and other factors. However, if these factors take place, then the viral agent can become the direct and decisive impetus to the development of congenital heart disease.

Chronic alcoholism of the mother leads to the development of heart disease in the fetus. This is exactly what happens in 29-50% of cases. The teratogenic effect of alcohol on the fetus leads to the occurrence of open arterial defect and the development of defects of the atrial and interventricular septa. Therefore, we can say with confidence that chronic alcoholism (and not only chronic) has a certain (and even significant) role in the development of congenital heart disease in future babies.

Diabetes mellitus in the mother is a predisposing factor for the development of heart defects in the fetus. Science has proven that children are born with congenital heart disease more often in mothers with diabetes than in healthy mothers. As a rule, these children have transposition of large vessels or a defect of the interventricular septum.

Taking medications during pregnancy can lead to the development of heart disease in the fetus. Of course, we are not talking about taking all medications, but only some. In particular, about the following.
First, thalidomide is not currently used during pregnancy. Taking this drug in practice led to the appearance of not a small number of congenital malformations, among which were congenital heart defects.
Secondly, amphetamines, as well as trimethadione and hydantoin, can have a negative effect on the fetus. The last two are anticonvulsants and can lead to the development of aortic coarctation in the fetus, pulmonary stenosis, transposition of great vessels and other congenital heart defects.

After two months of pregnancy, the likelihood of developing a heart defect in the fetus can be excluded. This judgment is wrong. The first two months of pregnancy are the most dangerous in terms of the development of congenital heart defects. It is the defects formed at this time that are classified as severe or combined. In the period after eight weeks of pregnancy, the risk of developing heart defects in the fetus is significantly reduced. However, there is still such a possibility. Heart damage in this case is usually less complex.

Congenital heart disease is genetically determined. Rather, it is one of the risk factors for the development of congenital heart disease. As a rule, based on the type of inheritance, a polygenic - multifactorial model is used, the essence of which is the following judgment: the more severe heart disease is among family members, the more likely it is to develop this disease in future children. Another regularity that can be identified based on the polygenic - multifactorial model is that the more relatives in the family have congenital heart defects, the more likely future children will develop a second heart defect. However, this type of inheritance of the disease is not unique. There are also chromosomal abnormalities and gene mutations. To say more precisely how great the risk of developing a congenital heart disease in a future baby is, only a geneticist is able, based on medical and genetic counseling.

There are other risk factors for developing congenital heart disease. These include the existing disorders of the endocrine system in spouses and the intake of endocrine drugs by the expectant mother in order to preserve the pregnancy, the age of the mother, the emerging threats of termination of pregnancy, and others.

Prevention of congenital heart disease is a multifaceted concept. Firstly, such preventive measures include prevention aimed directly at preventing the development of congenital heart defects. Secondly, we can talk about the prevention of congenital heart disease, which is unfavorable for the patient, if this disease already exists. Thirdly, prevention of repentance and prevention of complications of this disease.

Prevention of the development of congenital heart disease is quite difficult. As a rule, such prevention includes medical genetic counseling. In this case, explanatory work is also carried out among those future parents who have an increased risk of developing a congenital heart disease in their unborn child. For example, if three family members who are directly related are diagnosed with a congenital heart disease, then the probability of having a child with a similar disease varies from 65% to 100%. In these cases, pregnancy is of course not recommended. In addition, marriage between two people with a congenital heart defect can be considered undesirable. Prevention of the development of congenital heart disease in the fetus also includes constant monitoring by specialists of those women who have been exposed to the rubella virus. Preventive measures aimed at counteracting the unfavorable development of congenital heart disease include the following: timely diagnosis, determination by a specialist of the best method for correcting the defect in each specific situation (as a rule, this method is surgical correction of congenital heart disease), as well as the fulfillment of all requirements by parents child care professionals.

Providing proper care for a child in the event of a congenital heart defect is an important step in preventing complications and adverse development of this disease. Approximately 50% of deaths of children under one year of age due to congenital heart defects are due to a lack of competent and required infant care.

Finding a congenital heart defect does not mean that you need immediate special care for your child. If there is no critical threat to the life of a sick child, then the optimal timing is selected for special treatment, which also includes cardiac surgery. They depend on several factors, in particular, on the capabilities of the cardiac surgery department to carry out operations for everyone who needs it and on the natural development of the child. It often happens that early surgical treatment is not advisable.

Prevention of complications of the disease depends on the complications themselves. As contradictory as it may sound, it is true. One of the most dangerous complications that a congenital heart disease can give is bacterial endocarditis. In principle, bacterial endocarditis can complicate any type of defect. This complication can develop in a child already at preschool age. Some types of birth defects can trigger the development of polycythemia. Polycythemia is a chronic disease of the blood system. This disease is characterized by an increase in the absolute number of red blood cells (erythrocytes). This is why polycythemia is often called "blood clotting". This complication can be manifested by the appearance of frequent headaches. With polycythemia, the development of peripheral vascular inflammation and the occurrence of thrombosis is often. Quite often, congenital heart disease is complicated by the development of lung diseases. These can be both common respiratory diseases and more serious complications.

With congenital heart disease, physical activity should be significantly reduced. This opinion exists due to the fact that the heart of patients with a similar diagnosis is already exposed to increased stress and even at rest. Actually, it is this approach (reduced physical activity) that was scientifically substantiated earlier for all children with congenital heart disease. However, it can be argued that this approach has been severely criticized and changed. The mobility of children diagnosed with congenital heart disease should not be limited for no particular reason - this is due to the fact that there are only a small number of congenital heart defects in which a reduction in physical activity is really necessary. Moreover, children who are at an older age and have non-serious types of congenital heart defects can freely participate in outdoor sports games (it is not recommended only to take part in sports competitions, which, as a rule, are characterized by increased nervous tension and the load itself). If the congenital defect is quite serious, then the patient's well-being by itself will not push him to active physical activity. In principle, the choice of profession for patients with congenital heart disease should be related to regulation and physical activity as well.

The choice of profession for patients with congenital heart disease should be agreed with the cardiologist. And we are talking not only about the regulation of physical activity (although this is also about this), but about assessing the impact on the patient of various unfavorable factors for him. Such factors may include, for example, the negative effect on the patient's body of high temperature.

Pregnancy with congenital heart disease is associated with the risk of complications. At present, this problem is indeed acute. This is justified by the complexity of the problem and its significant prevalence. The risk of developing complications in pregnant women who have been diagnosed with congenital heart defects is in most cases. The exception is hemodynamically and anatomically compensated heart defects, and even then the risk may appear with an insignificant degree of compensation. Some congenital heart defects prevent an increase in the burden on the body during pregnancy. This is due to the possibility of a woman developing heart failure.Such congenital malformations, for example, include aortic stenosis and ventricular septal defect.

Diagnosis of congenital heart disease is based on a comprehensive examination of the heart. At the initial stage of diagnosis, when the doctor suspects that the patient has a congenital heart defect, the following examinations are carried out. These are electrocardiography (ECG) and echocardiography. An x-ray examination of the heart and lungs is also mandatory. The data of these surveys make it possible to determine the set of signs (direct and indirect) that indicate the presence of a certain defect. Further, the diagnosis and examination are based on what kind of heart defect is suspected in the patient. If necessary, the patient undergoes probing of the heart chambers and angiocardiography. Angiocardiography is an X-ray examination of the heart cavities, which is carried out immediately after the introduction of a radiopaque contrast agent into the blood. It is about the blood in the heart. Heart sounding is an examination, the essence of which is to pass a catheter into the left or right parts of the heart, which makes it possible to obtain information about the blood pressure in the chambers of the organ. Also, heart sounding allows you to take blood samples for research. The specialist gets the opportunity to get acquainted with the images of the coronary arteries and ventricles of the heart, which is possible due to the introduction of a contrast agent into them. This kind of examination of the patient is carried out in a cardiac surgery hospital.

There are several options for classifying congenital heart defects. The most important and generalizing is the following classification. Its basis is mainly the effect of congenital heart defects on pulmonary blood flow. In this regard, four groups are distinguished. The first includes congenital malformations of unchanged pulmonary blood flow. These can be, for example, anomalies of the location of the heart, stenosis of the aorta, mitral stenosis, defects of the conduction system of the heart and coronary arteries. The second group includes vices with hypervolemia (that is, a situation when the volume circulating in the blood abnormally increases) of the pulmonary circulation. This may include congenital heart defects that are not accompanied by early cyanosis and are accompanied by cyanosis. The first subgroup includes the following: coarctation of the child-type aorta, aorto-pulmonary fistula, Lyutambashe syndrome, etc. The second subgroup includes, for example, open arterial defect characterized by blood flow from the pulmonary trunk to the aorta. The third group includes congenital malformations of hypovolemia (abnormal decrease in the volume of circulating blood) of the pulmonary circulation. This subgroup also includes congenital lumps that are not accompanied by cyanosis (isolated pulmonary stenosis is an example of such a defect) and that are accompanied by cyanosis (for example, right ventricular hypoplasia, Ebstein's anomaly). The fourth group includes combined defects, which are characterized by a violation of the connection between large vessels and parts of the heart. This is, for example, a three-chambered heart with a single ventricle. This classification of congenital heart defects is important for the diagnosis of the disease. It makes it possible, for example, to suspect that a patient has a defect belonging to the fourth group. Angiocardiography is usually required to diagnose these defects.

Watch the video: Cyanotic Congenital Cardiac Defects: Diagnosis u0026 Therapy by Tom Kulik, MD, for OPENPediatrics (July 2022).


  1. Pedar

    SUPER everything, GENERALLY COOUTOO, if it were really so

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