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Congenital heart defects (ATC) - a group of diseases with abnormal structure of the heart and blood vessels (embriopatiyi).

They cause the violation of hemodynamics and degenerative changes in tissues. ATC children make up almost one third of the number of congenital malformations (OIA) and occur with a frequency of 6.8 cases for every thousand births, and most life-threatening child in the neonatal period.

The natural history of the ATC is associated with high mortality, in connection 's what raises the question of early diagnosis for timely surgical correction. If the latter is not carried out, then the 1st year of life, died about 55% of children with heart defects, and up to 5 years of age - 85% .rozumilo it big and serious problem.

Under the present circumstances where opportunities have reached world-class cardiac surgery, the survival of infants with ATC largely depends on the complexity of cardiovascular abnormalities, concomitant extracardial defects and patient age at the time of detection of disease.

Prenatal echocardiography had a major impact on the ability and effectiveness of treatment strategy for most defects. Its use (a four scans of the heart, ventricular outflow tract rating) can be suspected heart disease in the fetus already at 12-18 weeks of gestation. In the group of pregnant women at high risk for ATC are found with a frequency of 0.4%.
The etiology of defects in each case set hard. Most are caused by various environmental factors in combination with genetic factors. Famous connection with certain chromosomal abnormalities defects (defects 5%); Mutation of one gene cause 3% of ATC. Of great importance are the etiological acute viral infections (rubella, influenza, parainfluenza, cytomegalovirus infection, etc.) and teratogenic effect of environmental factors in the first weeks of pregnancy, when forming the heart and great vessels (2%).

Risk factors for having a child with ATC include maternal age, endocrine diseases spouses, toxemia and the threat of interruption I trimester of pregnancy, stillbirth history, presence of children in the family of UVR. Especially dangerous to the fetus affect future mother use alcohol. One third of mothers of children born with disabilities, including in 30-49% of cases diagnosed heart pathology, usually septal defect and transposition of the great vessels. Of particular importance is the medication during pregnancy. Today completely abandoned the receiving thalidomide - the drug that caused numerous congenital deformities (including and ATC). In addition, the teratogenic effect of possessing amphetamines (defects walls of the heart and transposition of the great vessels), anticonvulsants, particularly hydantoin (stenosis of the pulmonary arteries, coarctation of the aorta, open arterial duct) tai trimetadion (transposition of great vessels, tetralogy of Fallot, hypoplastic left ventricle) lithium (Ebstein's anomaly, tricuspid valve atresia), progestogens (Tetralogy of Fallot, combined defects). Mothers suffering from systemic lupus vivchak often children are born with congenital heart blockage of the pathways. Diabetes - the actual ATC.
Pregnant women who do not get enough riboflavin (vitamin B2), niacin (vitamin B3), the risk of having a baby with a heart defect, especially if their diet is dominated by saturated fats.

There are critical periods for acquisition of congenital heart disease: the period before implantation (first 5-8 days after conception) period of the placenta (4-6 week) period Bookmarks heart and blood vessels (3-7 week). Under the influence of teratogenic factors during pregnancy in these most probable development of ATC in the child.

Some researchers point to some seasonality in the birth of children with ATC. For example, there is evidence that an open arterial duct occurs predominantly in girls born from October to January. Boys with coarctation of the aorta being born in March and April, most seldom - in September and October. There are cases where a certain geographical area many children are born with the police department that gives the impression of some kind of epidemic.
Seasonal fluctuations emergence police department and so-called epidemic is likely to fl related to viral epidemics, as well as the influence of environmental factors (primarily ionizing radiation) that have teratogenic (that is adverse to the fetus) effect. For example, proved teratogenic effect of rubella virus. There is speculation that some hryputa viruses and other viruses may be important in causing abnormalities of the heart, especially if their performance falls on the first three months of pregnancy. Of course, only the presence of a viral disease is not enough to ensure that there was a defect of a child, but provided additional factors and genetic predisposition viral agent may be decisive in terms of the formation of the police department in the newborn.

The apparent risk factor is the presence of a genetic predisposition. Often when explaining inheritance resort to the so-called multifactorial polygenic-model (90%). Under this model, the more relatives suffering from cardiovascular pathology sitemi, the higher the risk of recurrent lesions in the family. In polygenic inheritance, there are gene mutations and chromosomal abnormalities. Give precise quantitative assessment of the risk of having a child can only ATC geneticist at medico-genetic counseling.

The pathogenesis caused by anatomical defects of character, the degree of violation of hemodynamics and severity of degenerative changes in tissues.

Distinctive clinical and diagnostic criteria
Any dysfunction of the heart and peripheral circulation manifested as cardiovascular syndrome which includes following symptoms: change the color of the skin and mucous, forced position and unusual posture, attacks of breathlessness, possibly with loss of consciousness, expanding the boundaries of the heart or configuration change hearts auscultative change of heart failure signs and pathological changes detected in X-ray, ECG and phonocardiographic examination.

The most common symptoms ATC watch parents - it cyanosis (cyanosis) and shortness of breath in children. The first signs of pathology may be the severity of the newborn in the first hours or days of life, difficulties in feeding a child, shortness of breath, fatigue, slow the rate of weight gain. Kids can badly endure swimming, be exciting or, conversely, depressed. But all this is just an excuse zanepokoyitys and contact a doctor and not self-diagnose.

For older children characterized by a lag in physical and psycho-motor development; stability found abnormalities in the heart; the presence of cardiac hill; "Drumsticks" and "watch steklyshek."

diagnostic value in children with cardiac murmur. However, many types of defects occurring without the typical auscultatory pattern. Heart defects can be 150 options. And almost all sick children can be helped. The main thing - as soon as possible to detect pathology. And so it is best to hold a series of examinations. First of all need electrocardiogram and chest X-ray and echocardiography of the heart. Only on the basis of these studies we can conclude and make an accurate diagnosis.
Prevention ATC can be divided into prevention of ATC, prevention of adverse complications and prevention of disease.

prevention of ATC is very difficult and in most cases reduced to medical genetic counseling and devel 'yasnyuvalnoyi contingent work among high-risk disease. For example, if three people from one family, with ATC, the likelihood of defects to offspring is 65-100%. In addition, careful observation and examination of women who had contact with the rubella virus or have comorbidities that could lead to the development of anomalies.
Prevention of adverse ATC is largely confined to the early diagnosis of defects, to ensure the proper care of the child and determine the optimal method of correcting defects (often a surgical correction). Ensuring appropriate care - a very important part in the treatment and prevention of adverse development.

Prevention of complications of heart abnormalities is determined primarily by complications. ATC is threatening complications, such as bacterial endocarditis, which may complicate any kind of issues and can 'appear as early as the preschool years. In some types of defects can develop polycythemia ( "blood thickening "), which can cause frequent headaches and inflammation and thrombosis of peripheral vascular and cerebral thromboembolism. Common complications are zistoronydyhalnoyi systems, ranging from frequent respiratory diseases and very serious complications of the pulmonary vessels and lungs.

Daily child with disorders of the heart should be protecting, with a maximum stay in the air, feasible exercise. It should temper the child systematically assign agents to enhance the immune system and protect against infections. All children with heart defects should systematically engage in therapeutic physical training under the supervision of a doctor.

Features of supply: 1 age recommended breast milk with appropriate corrective additives. Children older than 1 years old are invited diet with restriction of soluble carbohydrates, salts, extractives in normal amounts of protein and fat. To prevent a child from cerebral complications "blue " heart defect should receive plenty of fluids. In severe circulatory failure is shown feeding less often about 'food in volume, expressed breast milk children 1 year of life. In circulatory failure III degree, and sometimes IIB neonatal nursing degree carried through a tube.

And the last nuance that would like to address - a pregnancy in women with ATC. This problem is now quite sharply, because of its complexity and the significant prevalence. In general, except anatomically and hemodynamically compensated defects in all pregnancy ATC fl 'connected with the risk of complications. However, it all depends on the type of degree hinder compensation. In some ATC (eg, ventricular septal defect and aortic stenosis) increased pressure during pregnancy can lead to heart failure.

In pregnancy increased tendency to form vascular aneurysms, until the vessel wall ruptures. Women with high pulmonary hypertension often recorded abortions, venous thrombosis, and even sudden death. So the question in each case is decided individually, and better solve it in advance, since cardiac surgery (including, for the correction of defects) during pregnancy is not recommended.

Today, the increasing proliferation becomes very effective new type medical care to families in which the child was born with congenital disorders, including ATC - preconception prevention. This system measures individual for each family with all genetic characteristics, health status, occupational and household adverse effects in parents, opportunities for preventive interventions. The goal of prevention is to create optimal conditions for oocyte maturation, implantation and early development of zygotes. There are several stages of preconception prevention: I stage - medical and genetic counseling; Stage II - preventive sanitation and elimination of potential mutagens and Teratogen; Stage III - synchronization processes fertilization; Stage IV - sposterzhennya for pregnancy (diet and vitamin, in particular, taking folic acid).

Pidvysotsky Natalia - Associate Professor of Pediatrics and Medical Genetics
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2-10-2015, 10:02

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