Genetic diseases

Congenital heart defect

Congenital heart disease

congenital heart disease photo congenital heart disease - a heart defect, a congenital origin.Generally such a pathology affecting the partition of the heart, affects the artery that brings blood to the lungs venous or one of the major vessels of the arterial system - the aorta and going nezarastanie arterial duct (PDA).If congenital heart disease disturbed blood flow in the systemic circulation (BPC) and small (ICC).

Heart defects - a term that combines a certain heart disease, the main preference is to change in the anatomical structure of the heart valve device or of its largest vessels, as well as non-union partitions between the atria and ventricles of the heart.

congenital heart disease causes

main cause of congenital heart disease are disorders of the chromosomes - it makes almost 5%;mutating gene (2-3%);Various factors, such as alcoholism and drug addiction of their parents;transferred in the first trimester of pregnancy infectious diseases (rubella, hepatitis), reception of medicines

(1-2%), as well as hereditary predisposition (90%).

At various distortions chromosome mutations appear in their quantitative and structural form.If there are chromosome aberrations large or medium size, it is generally fatal.But when distortion occurs compatibility for life, this is when there are different types of congenital diseases.When there is a third chromosomal chromosome defects occur between the valve flaps atrial and ventricular walls, or a combination thereof.

Congenital heart disease with changes in the sex chromosomes are less common than in trisomy of autosomes.

Mutations in one gene leads not only to congenital heart disease, but also to the development of anomalies of other organs.Malformations of the CCC (cardiovascular system) are associated with the syndrome of autosomal dominant type and the autosomal recessive.These syndromes are characterized by lesions of the picture in the light or heavy severity.

The formation of a congenital heart defect may contribute to different environmental factors that affect the cardiovascular system.Among them are the X-rays that woman could obtain during the first half of pregnancy;radiation of ionized particles;some types of drugs;infectious diseases and viral infections;alcohol, drugs and so forth. Therefore, heart defects, which were formed under the influence of these factors are called embryopathy.

under the influence of alcohol often formed VSD (ventricular septal defect), PDA (patent ductus arteriosus), atrial septal pathology.For example, anticonvulsants lead to the development of stenosis of the pulmonary artery and the aorta, aortic koartatsii, CAP.

Ethanol ranks first among the toxic substances that contribute to congenital heart disease.The child, born under the influence of alcohol will have embriofetalny alcohol syndrome.Mothers who suffer from alcoholism, give birth to nearly 40% of children with congenital heart disease.Alcohol is especially dangerous in the first trimester of pregnancy - this is one of the most critical periods of fetal development.

very dangerous for the future of the child is the fact, if a pregnant woman suffered rubella.This disease causes a number of pathologies.And congenital abnormality of the heart is no exception.The incidence of congenital heart after rubella is from 1 to 2.4%.Among the isolated heart defects most frequently encountered in practice: the CAP, AVK, tetralogy of Fallot, VSD, pulmonary stenosis.

Experimental data suggest that almost all congenital heart defects basically have a genetic origin, which is consistent with multifactorial inheritance.Of course, there are genetic heterozygosity nature and some forms of CHD associated with single gene mutations.

addition etiological factors, causes of congenital heart disease, and allocate more risk to which women fall in the age;with disorders of the endocrine system;toxicosis with the first three months of pregnancy;who have a history of stillborn children, as well as existing children with congenital heart disease.

congenital heart disease symptoms

to the clinical picture of congenital heart disease characterized by structural features of the defect, the recovery process and the resulting complications of various etiologies.First of all the symptoms of congenital heart disease include shortness of breath that occurs on a background of little physical activity, heart palpitations, periodic weakness, pallor or cyanosis of the face, heart pain, swelling and fainting.

Congenital heart defects can occur at intervals, so there are three main phases.

In the primary phase of adaptation, the patient's body tries to adapt to disturbances in the circulatory system, which are caused by defects.As a result, the symptoms of the disease symptoms usually expressed slightly.But during a severe hemodynamic rapidly developing cardiac decompensation.If patients with congenital heart disease do not die during the first phase of the disease, approximately 2-3 years to come to improve their health and development.

In the second phase point relative compensation and improvement in overall condition.And for the second inevitably comes the third, when all the adaptive possibilities of an organism at the end, dystrophic and degenerative changes in the heart muscle, and various organs.Basically terminal phase leads to the death of the patient.

Among the most pronounced symptoms of congenital heart isolated heart murmur, cyanosis and heart failure.

systolic heart murmur nature and different intensity observed in almost all kinds of vices.But sometimes they can be shown completely absent or inconsistent.As a rule, the best hearing noises are located in the top left of the sternum or close to the pulmonary artery.Even a slight increase in heart shape makes it possible to listen to the noise of heart.

During stenosis of the pulmonary artery and TMS (transposition of the great vessels) sharply manifested cyanosis.And at other kinds of vice, he can completely be absent or small.Cyanosis sometimes is permanent or occurs during screaming, crying, that is, at intervals.This symptom may be accompanied by a change in the terminal phalanges of the fingers and nails.Sometimes this symptom is expressed pallor of the patient with congenital heart disease.

Some types of defects can vary cardiac dullness.And it will depend on the increase in localization changes in the heart.For an accurate diagnosis to ascertain the shape of the heart and heart hump, resorted to the X-ray using both angiography and kymograph.

In heart failure may develop peripheral vascular spasm, which is characterized by pallor, cold extremities and nose.Spasm is manifested as an adaptation of the patient to a heart failure.

congenital heart disease in newborns

Infants have the heart of a fairly large size, which has significant spare capacities.Congenital heart disease is usually formed at 2-8 weeks of gestation.The reason for its occurrence in the child are considered different maternal diseases, infectious and viral nature;future mother work in hazardous work and, of course, the hereditary factor.

Approximately 1% of newborns have disorders of the cardiovascular system.Now, just to make a diagnosis of congenital heart disease at an early stage is not easy.Thus, it helps to save the lives of many children, using medical and surgical therapy.

Congenital heart disease is most often diagnosed in male children.And for various defects are characterized by a certain sexual predisposition.For example, a PDA and VSD prevalent in women, and aortic stenosis, congenital aneurysm, aortic coarctation, tetralogy of Fallot and TMA - men.

One of the most common changes in the hearts of children considered to be cleft walls - this hole anomalous nature.This is mainly VSD, which are located between the upper chambers of the heart.Over the entire period of the first year of baby's life, some minor defects spontaneously partitions can be closed and no adverse effect on the further development of the child.But for the major pathologies indicated surgery.

cardiovascular system of the fetus before birth is a circulation, which bypasses the lungs, that is, the blood does not flow to and circulated through the ductus arteriosus.When a child is born, this flow is normally closed for several weeks.But if this does not happen, the child put the PDA.This creates a certain strain on the heart.

cause of severe forms of cyanosis in children is the transposition of the two large arteries that connects the pulmonary artery to the left ventricle and the aorta - to the right.This is considered a pathology.Without surgery, newborns are killed immediately during the first days of life.In addition, children with severe forms of congenital heart disease, rarely observed heart attacks.

characteristic signs of congenital heart disease in children are poorly gaining weight, fatigue and pale skin.

congenital heart disease treatment

Congenital heart defects can sometimes have a different clinical picture.Therefore, methods of treatment and care will largely depend on the severity and complexity of clinical manifestations of disease.Basically, when the patient is full payment blemish the image of his life is absolutely normal, as in healthy people.Typically, these patients do not need a doctor's advice.They may make recommendations aimed at is the ability to hold the defect in the compensation condition.

The first patient suffering from congenital heart disease need to limit engaged in hard physical labor.The work, which will adversely affect the well-being of the patient, it is advisable to change to a different type of activity.

man with a history of congenital heart disease, should give up training complex sports and participate in competitions.To reduce the load on the heart, the patient should sleep about eight hours.

Proper nutrition should accompany the life of patients with congenital heart disease.The food should be taken three times a day to an abundant food did not cause stress on the cardiovascular system.All food should not contain salt, and with the appearance of heart failure salt should not exceed five grams.Keep in mind that food should be consumed only cooked foods, as they are more susceptible to digestion and significantly reduce the burden on all the organs of digestion.We do not smoke and take alcohol in order not to provoke the cardiovascular system.

One of the methods of treatment of congenital heart disease is a medication when it is necessary to increase the contractile function of the heart, regulate water-salt metabolism, and remove from the body excessive amount of fluid and conduct struggle with altered rhythms of the heart and improve the metabolic processes in the myocardium.

treatment of congenital heart disease is sometimes changed due to the peculiarity and the severity of defect.Always also take into account the patient's age and overall health.For example, sometimes children with minor forms of heart defects requires no treatment.And in some cases immediately necessary to carry out surgery as early as infancy.

Almost 25% of children with congenital heart disease in urgent need of early surgery.To determine the location of the defect and its severity in the first days of life of the children put a catheter into the heart.

major operating treatment of congenital heart disease is a profound method of hypertension, which uses extreme cold.This type of operation makes babies having heart size of a walnut.Applying this method for cardiac surgery of infants, the surgeon has the ability to carry out complicated surgery to repair the heart, as a result of complete relaxation.

Currently widely used and other radical methods of treatment of congenital heart defects.Among them are the commissurotomy, where applicable cut fused valves and prosthetics when removed modified mitral or tricuspid atrioventricular valve, and then sewn valve prosthesis.After these surgical interventions, particularly mitral commissurotomy, the prognosis of surgical treatment has a positive result.

Mainly patients after operations return to normal life, they are able to work.Children do not limit themselves to physical abilities.However, those who underwent heart surgery, should continue to be observed at the doctor.Vice, which has a rheumatic etiology, prevention needs to be repeated.

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