Congenital heart defects. Congenital heart defects What is congenital venous threshold

Congenital heart defect- This is an anomaly in the structure of the heart or large vessels.

Information Pathology of the cardiovascular system is very common (about 1% of all newborns). Children with such diseases are characterized by high mortality in the absence of timely treatment: up to 70% of patients die in the first year of life.

According to statistics, if we take into account the totality of defects, there is a greater prevalence of anomalies of the cardiovascular system in boys, but some types of congenital heart defects are more common in girls.

There are three groups of congenital heart defects according to the frequency of occurrence in males or females.:

1. "Male" vices: coarctation of the aorta (often in combination with an open ductus arteriosus), transposition of the main vessels, aortic stenosis, etc .;
2. "Women's" vices: open arterial defect, atrial septal defect, Fallot's triad, etc.;
3. Neutral vices(with the same frequency occur in boys and girls): atrioventricular septal defect, aorto-pulmonary septal defect, etc.

Causes of birth defects

The formation of congenital malformations of the heart and large vessels occurs in the first 8 weeks of pregnancy under the influence of various factors:

1. Chromosomal disorders;
2. Bad habits of the mother (, drug addiction);
3. Unreasonable intake of drugs;
4. Infectious diseases of the mother (, herpetic infection, etc.);
5. Hereditary factors (the presence of heart disease in parents and close relatives significantly increases the risk of anomalies of the cardiovascular system in a child);
6. Age of parents (male over 45, female over 35);
7. Adverse effects of chemical compounds (gasoline, acetone, etc.);
8. radiation exposure.

Classifications

At the moment, there are many classifications of congenital anomalies of the cardiovascular system.

In 2000, the International Nomenclature of Congenital Heart Diseases was adopted.:

1. Hypoplasia of the right or left heart(underdevelopment of one of the ventricles). It is rare, but is the most severe form of defects (most children do not live to see the operation);
2. obstruction defects(narrowing or complete closure of the valves of the heart and large vessels): aortic valve stenosis, pulmonary valve stenosis, bicuspid valve stenosis;
3. Partition defects: atrial septal defect, ventricular septal defect;
4. Blue vices(leading to cyanosis of the skin): tetrad of Fallot, transposition of the main vessels, stenosis of the tricuspid valve, etc.

Also in practicing medicine, the following classification is often used:

1. "Pale" malformations of the cardiovascular system(without cyanosis): defects of the atrial and interventricular septa, open ductus arteriosus, etc.;
2. "Blue vices"(with severe cyanosis of the skin): Fallot's tetrad, transposition of the great vessels, etc .;
3. Malformations with cross-blood ejection(a combination of "blue" and "pale" vices);
4. Defects with impaired blood flow: stenosis of the aortic, pulmonary or mitral valves, coarctation of the aorta, etc .;
5. Valvular heart disease: insufficiency of the tricuspid or mitral valves, stenosis of the valves of the pulmonary artery and aorta, etc .;
6. Defects of the coronary arteries of the heart;
7. cardiomyopathy(defects in the muscular sections of the ventricles);
8. Heart rhythm disorders, not caused by a defect in the structure of the heart and large vessels.

List of the most common congenital heart defects

Clinical signs

Additionally The set of clinical signs depends primarily on the type of defect and its severity. Most often, symptoms appear in the first weeks and months after the birth of a child, but they can also be diagnosed by chance, without showing themselves.

All clinical signs of congenital heart defects can be combined into the following groups:

1. Cardiac signs: palpitations or rhythm disturbances, pain in the region of the heart, pallor or cyanosis of the skin, swelling of blood vessels in the neck, deformity of the chest (“heart hump”), etc .;
2. Heart failure with certain manifestations(acute or chronic form, left ventricular or right ventricular);
3. Chronic hypoxia(oxygen deficiency);
4. Respiratory disorders(more often with heart defects with a change in the pulmonary circulation).

Diagnostics for congenital heart defects

The main diagnostic measures are:

In some cases, it is possible to carry out several stages of surgical intervention.

Medical treatment is used as an adjunct to surgery:

1. Drugs that improve metabolic processes in the myocardium(asparkam,);
2. Preparations to improve microcirculation(xanthinol nicotinate);
3. Drugs for the treatment of arrhythmias;
4. Preparations for the normalization of blood pressure(propranolol);
5. cardiac glycosides(digoxin).

Forecast

The prognosis depends entirely on the type and severity of the congenital defect. If the disease is detected early and its radical treatment is possible, then the prognosis is favorable in most cases. With severe heart defects, when there is no possibility of its full treatment, the prognosis is doubtful.

Congenital heart defects are one of the most common developmental anomalies, ranking third after anomalies of the central nervous system and musculoskeletal system. The birth rate of children with congenital heart defects in all countries of the world, including Russia, ranges from 2.4 to 14.2 per 1000 newborns.

The problems of diagnosis and treatment of congenital heart defects are extremely important in pediatric cardiology. Physicians and cardiologists, as a rule, are not sufficiently familiar with this pathology due to the fact that the vast majority of children have already received surgical treatment or died by the age of puberty.

The causes of congenital heart defects are unclear. Heart defects occur at 3-7 weeks of gestation, during the laying and formation of heart structures. In the first trimester of pregnancy (in the period of 4-8-12 weeks), under the influence of various teratogenic effects, the process of formation of the anatomical structures of the cardiovascular system is disrupted, which results in defects in the septa of the heart, narrowing of the heart mouths, changes in the shape of the valves, etc. .

Traditionally, congenital heart defects also include fetal communications that have not closed as a result of a violation of postnatal hemodynamic restructuring (in particular, open ductus arteriosus).

Relevance

Significant prevalence of CHD in the pediatric population. In Russia, up to 35,000 children with CHD are born annually, which is 8-10 per 1,000 live births. In Yaroslavl and the region, statistics on the prevalence of congenital heart disease coincides with the all-Russian. The incidence of CHD among children aged 0 to 14 years is 8.11‰, among adolescents - 5.4‰ (according to the results of 2009). CHD accounts for 22% of all congenital malformations.

An upward trend in the prevalence of congenital heart defects.

This is facilitated by:

The growth of hereditary and infectious pathology.

Deterioration of the ecological situation,

- "aging" of pregnant women, deterioration of their health, "bad habits", etc.

Along with this, the number of more complex and severe heart defects is increasing.

High mortality in CHD:

• According to T.V. Pariyskaya and V.I. Gikavogo (1989) in St. Petersburg, the mortality rate of patients with CHD during the first year of life is 40%, of which among newborns - 48.3%, among children 1-3 months - 32.4%, 4-8 months - 19, 3%.
• After the first year of life, mortality from CHD decreases and among children aged 1 to 15 years it is 5% of the total number of patients born with CHD (N.A. Belokon, V.I. Podzolkov, 1991).

Therefore, CHD occupy one of the leading places in the structure of causes of infant mortality (2nd-3rd place) and childhood disability. Among congenital malformations leading to disability, CHD account for about 50% (E.F. Lukushkina, 2000; L.I. Menshikova, T.T. Kuzmina, 2003).

Etiology of congenital heart defects

Mutations

Exogenous and endogenous environmental factors

Multifactorial inheritance

CHD caused by genetic disorders can occur both in isolation and as part of syndromes with multiple congenital malformations - MCM:

Down syndrome (trisomy 21),

Patau syndrome (trisomy 13),

Edwards syndrome (trisomy 18),

Shereshevsky-Turner syndrome (X0).

Polygenic multifactorial inheritance is the cause of CHD in 90% of cases.

Influence of external factors:

• Infectious agents (rubella virus, cytomegalovirus, herpes simplex virus, influenza virus, enterovirus, Coxsackie B virus, etc.).
• Maternal somatic diseases, primarily diabetes mellitus, lead to the development of hypertrophic cardiomyopathy and congenital heart disease.
• Occupational hazards and bad habits of the mother (chronic alcoholism, computer radiation, intoxication with mercury, lead, exposure to ionizing radiation, etc.).
• Environmental troubles.
• Socio-economic factors.
• Psycho-emotional stressful situations.

Risk factors for having children with congenital heart disease:

Mother's age;

Endocrine diseases of spouses;

Toxicosis and the threat of termination of the first trimester of pregnancy;

Stillbirths in history;

The presence of children with congenital heart disease in the immediate family.

Only a geneticist can quantify the risk of having a child with CHD in a family, but every doctor can and should give a preliminary forecast and refer parents for medical and biological consultation.

Classification of congenital heart defects (Marder, 1953)

Working group of the 9 most common CHD (N.A. Belokon, V.P. Podzolkov, 1991)

1. Congenital heart defects of the pale type with arteriovenous shunting of blood:

- ventricular septal defect (VSD)

- atrial septal defect (ASD)

- open ductus arteriosus (PDA).

2. Congenital heart defects of the blue type with veno-arterial shunting of blood:

- Fallot tetrad,

- transposition of the great vessels,

- tricuspid valve atresia.

3. Pale-type congenital heart defects without blood shunts, but with an obstruction to blood flow from the ventricles:

Stenosis of the mouth of the pulmonary artery,

Coarctation of the aorta.

Phases of the natural course of congenital heart disease

I. Adaptation phase.

The duration of the adaptation phase is from several weeks to 2 years.

Due to the peculiarities of intrauterine hemodynamics (the presence of a placental circulation and fetal communications), the fetus does not develop decompensation in most CHD.

With the birth of a child, the cardiovascular system of the newborn adapts to the extrauterine conditions of hemodynamics: there is a disconnection of the circulation circles, the formation of both general and intracardiac hemodynamics, the pulmonary circulation begins to function, followed by a gradual closure of fetal communications: the arterial duct and the oval window.

Under these conditions, with still undeveloped compensation mechanisms, hemodynamics often turns out to be inadequate, various complications develop. The child's condition is progressively and sharply deteriorating, which forces him to carry out conservative therapy and emergency surgical interventions.

Complications of the adaptation phase of congenital heart disease

In patients with CHD of the first and third hemodynamic groups:

Circulatory failure (early, emergency)

Hypostatic pneumonia

Early pulmonary hypertension

Dystrophy (hypotrophy)

Rhythm and conduction disorders

Shortness of breath-cyanotic (hypoxemic) crises.

Violation of cerebral circulation.

Relative anemia

With any CHD, the risk of developing bacterial endocarditis is high.

2. Phase of relative compensation (phase of imaginary well-being). It lasts from several months to decades.

This period is characterized by the connection of a large number of compensatory mechanisms in order to ensure the existence of the organism in conditions of disturbed hemodynamics.

Allocate cardiac and extracardiac compensatory mechanisms.

Cardiacs include:

Increased activity of enzymes of the aerobic oxidation cycle (succinate dehydrogenase);

Entry into action of anaerobic metabolism;

Frank-Starling law;

Hypertrophy of cardiomyocytes.

Extracardiac compensation mechanisms include:

- activation of the sympathetic link of the ANS, which leads to an increase in the number of heart contractions and centralization of blood circulation;

- increased activity of the renin-angiotensin-aldosterone system, as a result of which blood pressure rises and adequate blood supply to vital organs is maintained, and fluid retention leads to an increase in the volume of circulating blood.

At the same time, the retention of excess fluid in the body and the formation of edema are opposed atrial natriuretic factor;

- erythropoietin stimulation leads to an increase in the number of red blood cells and hemoglobin and, thus, an increase in the oxygen capacity of the blood.

Complications of the relative compensation phase

• Bacterial endocarditis.
• relative anemia.

3. Phase of decompensation (terminal phase).

This period is characterized by the depletion of compensatory mechanisms and the development of heart failure refractory to treatment; the formation of irreversible changes in the internal organs.

Complications of the CHD decompensation phase (terminal phase)

In patients with CHD of the first and third

hemodynamic groups:

• Chronic circulatory failure.
• Pulmonary hypertension.
• Dystrophy.
• Rhythm and conduction disturbances.

In patients with cyanotic CHD:

• Shortness of breath-cyanotic (hypoxemic)

• Violation of cerebral circulation.
• relative anemia.
• Hypoxic hemorrhagic vasculitis.
• Hepato-renal syndrome.
• Hypoxic arthritis.

In patients with aortic malformations:

• Arterial hypertension.
• angina syndrome.

With all congenital heart diseases, the risk of developing bacterial endocarditis remains.

Prenatal diagnosis and prenatal assessment of the severity of congenital heart disease

For some children with congenital heart disease, urgent surgical interventions must be performed in the first hours after birth to save their lives. Therefore, prenatal diagnosis and prenatal assessment of the severity of congenital heart disease is sometimes of decisive importance for providing the child with timely specialized (including cardio-surgical) care.

Prenatal diagnosis of the fetus by ultrasound (ultrasound) is currently being planned for all pregnant women at 10-12, 20-22 and 32-34 weeks of pregnancy. Among the large list of tasks of this study is the diagnosis of malformations, including malformations of the cardiovascular system.

Identified prenatally congenital heart disease according to the severity and risk of poor prognosis are divided into 5 categories

Heart defects of the first and second categories, in particular, transposition of the main arteries (TMA), double outlet of vessels from the right ventricle, common truncus arteriosus, extreme degree of Fallot's tetralogy, pulmonary atresia with valvular agenesis, interruption of the aortic arch, etc. often create critical life-threatening situations in the neonatal period and in infancy. Children with these heart defects should come to the attention of a cardiologist and a cardiac surgeon immediately after birth.

In Moscow, on the basis of the City Clinical Hospital No. 67, a specialized department has been created, where women who are pregnant with a fetus with a “critical” CHD variant are hospitalized for delivery. If necessary, the newborn child is immediately transported for surgical treatment to the Scientific Center for Cardiovascular Surgery. Bakulev.

With some heart defects of the first group and at the current level of development of cardiac surgery, it is impossible to perform a full-fledged surgical correction. They are accompanied by high natural and postoperative mortality. If prenatally revealed precisely such defects, then the question arises of termination of pregnancy (!?).

Early postnatal diagnosis of congenital heart disease

Clinical symptoms that are alarming for congenital heart disease in newborns:

(neonatologist of the maternity hospital and neonatal pathology departments)

1. Central cyanosis from birth or after some time, which is not eliminated by the appointment of oxygen.

2. Noise over the region of the heart may be a sign of a defect, however, the child may also have physiological noises and noises associated with the persistence of fetal communications. In addition, the most severe heart defects are often not accompanied by noise.

3. Permanent tachycardia or bradycardia, not associated with neurological pathology or somatic condition.

4. Tachypnea more than 60 per minute, including during sleep, with or without retraction of compliant parts of the chest.

5. Symptoms of circulatory failure (including hepatomegaly, edema, oliguria).

6. Irregular heart rhythm.

7. Reduction or absence of pulsation in the lower extremities (KA);

8. Generalized weakening of the pulse - suspicion of hypoplasia of the left heart or circulatory shock.

9. "High" pulse - a suspicion of a discharge of blood from the aorta with low diastolic blood pressure (OAP, OAS).

Additional examinations for suspected CHD in the neonatal period:

1. Hyperoxic test - positive for cyanosis of central origin. In CHD with right-to-left blood shunting, general early cyanosis is of central origin and is due to the discharge of venous blood into the systemic circulation and a decrease in the partial oxygen content in arterial blood. A newborn child with severe general cyanosis is inhaled with 100% oxygen through a mask for 10-15 minutes under the control of blood gas analysis. With CHD, cyanosis does not decrease or decreases slightly. Test results should be considered in conjunction with other diagnostic features.
2. ECG, echocardiography, chest x-ray in 3 projections (frontal, right and left anterior oblique).
3. Measurement of blood pressure on the brachial and femoral arteries.

Criteria for diagnosing CHD in infancy and early childhood (district pediatrician, general practitioner, pediatric cardiologist)

• Clinical findings: cyanosis, shortness of breath, physical developmental delay, symptoms of heart failure, heart hump, cardiomegaly, changes in heart sounds and rhythm, organic murmurs, changes in blood pressure.
• Electrocardiography: position el. axes of the heart, myocardial hypertrophy, dysmetabolic changes in the myocardium.
• ECHO gr.
• Changes on the radiograph of the chest cavity.
• Arterial hypoxemia (in terms of blood gases)

The birth of a small person is a miracle, a priceless gift from nature, which, unfortunately, sometimes makes unfortunate mistakes. Congenital heart disease at first always causes panic in the father and mother, and then there are numerous questions about the future fate of the child.

What is this pathology? The word "congenital" means that the baby was born with a developmental disorder of some organ (in this case, the heart), the deviation from the norm occurred in the period from 2 to 8 weeks of intrauterine development. The word "vice" is usually used as something inevitable, fatal, incompatible with normal existence. However, this situation is unlikely to apply to congenital anomalies of the development of the heart, because today many of them can be corrected, and patients after surgery in most cases can lead a normal life.

Causes

According to statistics in pediatrics, the frequency of birth of children with CHD is from 6 to 8 for every thousand live births. This number will increase significantly if we add to it a congenital pathology that was not discovered in infancy, but manifested itself many years later. This includes congenital heart defects in adults - significant sagging of the mitral valve cusps, disturbances in the conduction system of the heart, etc.

Almost 25,000 babies are born every year in our country with various heart anomalies. Today, with the advent of the latest technologies and modern equipment, it has become possible to identify some of them much earlier than it was done 10-15 years ago. In most cases, it is not possible to determine the cause of congenital heart defects, however, the following factors can increase the risk of a violation of the normal intrauterine laying of the heart tube:

• transferred viral infections (flu, rubella) in the 1st trimester;
• the presence of obesity in the mother, decompensated diabetes mellitus, phenylketonuria;
• alcohol abuse, tobacco smoking and drug use during pregnancy;
• taking certain medications (anticonvulsants, isotretinoin, ibuprofen);
• the age of the parents;
• systemic connective tissue diseases (lupus) in the mother;
• contact with organic solvents, exposure to ionizing radiation in early pregnancy;
• chromosomal abnormalities (Down syndrome, Shereshevsky-Turner syndrome).

It is always very important for parents to try to establish the cause of the appearance of congenital. Many blame themselves or their relatives for the situation that has arisen. Of course, hereditary predisposition matters. However, no one can know for sure what their genes are responsible for, where, when and in what generation they can show their signs. The probability of having a sick baby is much higher in marriages between cousins, second cousins, as well as in the presence of CHD in a sibling. In general, in congenital heart defects, the etiology still remains completely unexplored.

It is important to understand that parents of a child with CHD should not blame each other, it will be much more important to deal with the consequences and find, with the help of a specialist, the best ways to correct a ridiculous mistake of nature.

Types of vices

All congenital heart defects, according to the classification based on the pathophysiological principle, are divided into types depending on the prevailing hemodynamic disorders in both circulations. In total, more than 140 CHD variants have been described, which occur in the population with different frequencies.

One way or another, the classification of CHD takes into account the prevailing clinical symptoms of defects that are associated with existing anatomical disorders. The features of the discharge of blood between the right and left sides of the heart, as well as into the main vessels, are important. It is also important to have anomalies of the valvular apparatus, aortic and pulmonary trunk. Violations of the process of hemodynamics (blood supply) may be accompanied by the appearance of cyanosis (bluish coloration of certain areas of the skin and mucous membranes) due to a lack of oxygen supply to the tissues.

What types of congenital heart defects are united by the generally accepted classification among doctors:

Clinical manifestations

Signs of congenital heart defects in two-thirds of cases are not noticeable immediately after birth, only in one-third the condition of children shortly after birth can be very difficult. Such children are bluish, they have shortness of breath, they refuse to eat and constantly cry. In most cases, with congenital heart disease, the history of the disease begins much later than the neonatal period. The CHD clinic is multifaceted and is determined by the structural features of the defect, the degree of its compensation by the body and possible complications. During the UPU, 3 phases or periods are distinguished:

1. Adaptation of the body to existing circulatory disorders. Compensation for the defect will last depending on the severity of these violations. With minor congenital heart disease, the symptoms are usually mild, with large defects, an emergency variant of hypertrophic growth of the myocardium occurs, which then easily turns into decompensation.
2. The phase of relative well-being - occurs after about 3 years. This period is characterized by a decrease in the number of subjective complaints, an improvement in the general condition of the child, physical activity and the level of development by age, while increasing. The more fully children compensate for hemodynamic and gas exchange disorders, the clearer the improvement looks.
3. Decompensation is the final stage, characterized by chronic cardiovascular insufficiency, which inevitably occurs after the exhaustion of the body's compensatory capabilities and is accompanied by the development of degenerative-dystrophic processes in the internal organs. Various infections, their complications, concomitant diseases contribute to the onset of this stage.

In the stage of decompensation, children complain of pain in the region of the heart, weakness and lack of air even with minimal physical exertion (walking). Depending on the type of defect, there may be a different degree of cyanosis. Its appearance is usually accompanied by signs of blood clotting - in blood tests there will be signs of polycythemia (an increase in the concentration of red blood cells) and hyperhemoglobinemia (an overestimated hemoglobin level). Signs of chronic heart failure in children with congenital heart disease are a lag in physical development data, constant weakness, pallor and a bluish tint of the skin, swelling in the legs, a change in the shape of the nail plates like watch glasses and phalanges like "drumsticks".

How to Diagnose

Although congenital and acquired heart defects differ in etiology and time of onset of the first symptoms, sometimes it becomes necessary to differentiate them. In the second case, anamnesis data usually come to the rescue (for example, a recent sore throat).

Diagnosis of congenital heart defects begins in the prenatal period, the standards for examining expectant mothers include the fetus after 14 weeks of gestation. If CHD is suspected, the issue of additional examinations is decided. Childbirth is carried out in a medical institution with the possibility of performing the operation immediately or shortly after the birth of the baby.

Correction of fetal heart defects is a promising area of ​​fetal (intrauterine) surgery, developed in the United States and some other countries with highly developed medicine. In our country, some major medical centers carry out similar operations, but not yet in full.

Unfortunately, it is not always possible to detect congenital heart disease before the baby is born, the examination of young children includes the following activities:

1. History taking, external examination by a pediatrician or pediatric cardiologist, auscultation (listening to heart sounds and murmurs).
2. ECG (electrocardiogram recording) is a traditional time-tested method that shows which parts of the heart are overloaded and how much, determines the presence of heart rhythm disturbances.
3. Echocardiography - ultrasound examination of the structure and function of the heart and blood vessels is the most informative method, allows you to make an accurate diagnosis at any age of the child and before his birth, determines the presence of structural changes, the state of blood flow in the chambers of the heart, and much more.
4. X-ray methods - the location and size of the heart is assessed, as well as the condition of the pulmonary vessels, this is an additional diagnostic method for suspected congenital heart disease.

It is not necessary to use all these methods in order to determine congenital heart disease. In some doubtful cases, invasive interventions may be prescribed to obtain comprehensive information:

1. Cardiac probing - using a special catheter, the pressure in the chambers is measured, blood samples are taken to determine oxygen saturation, contrast is injected to take pictures.
2. Angiocardiography - a study with contrast allows you to get an accurate anatomical picture of not only the cavities of the heart, but also the pulmonary circulation and the main vessels. Used to obtain the most complete information before the operation.

How to treat

The examination allows you to determine the tactics of further management of the patient, while there may be three options:

• urgent operation;
• planned surgical treatment;
• maintenance therapy without surgery.

Currently, the diagnosis of congenital heart disease does not affect the duration and quality of life in any way, provided that the child is provided with qualified medical care, in particular surgical care, in a timely manner.

Surgical treatment of congenital heart defects is carried out when it is impossible to carry out conservative measures to stabilize the patient's condition. Depending on the type of anomaly and the severity of the clinical manifestations, there are three types of operations:

• emergency - they are done immediately after diagnosis, most often in a critical condition of newborns;
• emergency interventions - the child is prepared for several days;
• elective surgeries are performed at a convenient time for the patient and the doctor, usually between the ages of 3 and 12 years.

Depending on the approach to surgical treatment, operations are divided into 2 types:

1. Radical interventions - the defect is eliminated in full, this can be done with well-formed parts of the heart and the possibility of dividing the circulation circles while maintaining normal anatomy.
2. Palliative interventions - are done with complex defects to alleviate the patient's condition. They are used alone or as a preparation for a subsequent radical intervention.

According to the technique of performing the operation, there are:

• open - carried out through an incision in the chest on a working or stopped heart using a heart-lung machine;
• X-ray surgery - catheters with balloons are inserted under X-ray control to expand narrowed areas, create patches in the septa of the heart, etc.

Over time, the child may be operated on again if, as the body grows, the destruction of the artificial valve or prosthesis occurs. In the future, the problem can be solved by materials lined from the inside with the child's own cells. Only patients with severe heart failure (very complex developmental defects, cardiomyopathy, widespread tumor) receive refusals in surgery.

Prevention of congenital heart defects is the planning of pregnancy in the most appropriate period of a woman's life, genetic examination and counseling of couples who already have a sick child, a healthy lifestyle, early vaccination against rubella and influenza, control of sugar in diabetes, taking vitamin complexes as prescribed by a doctor .

Congenital heart disease is an anatomical defect of the heart, its vessels, or valves, which occurs even in utero.

Congenital heart disease in children may not be noticeable, but may appear immediately after birth. On average, this disease occurs in 30% of cases and ranks first among diseases that cause death in newborns and children under one year old. After a year, the mortality rate falls, and at the age of 1-15l. about 5% of children die.

There are seven main types of congenital heart disease in newborns: pathology of the interventricular septum, pathology of the interatrial septum, aortic coarctation, aortic stenosis, patent ductus arteriosus, transposition of the great main vessels, pulmonary stenosis.

Reasons for the appearance

The main causes of congenital malformation are external influences on the fetus in the 1st trimester of pregnancy. A defect in the development of the heart can be caused by a viral disease of the mother (for example, rubella), radiation exposure, drug exposure, drug addiction, and alcoholism in the mother.

The health of the father of the child also plays an important role, but genetic factors in the development of congenital heart disease in children play the least role.

There are also such risk factors: toxicosis and the threat of miscarriage in the 1st trimester, the presence of past pregnancies ending in the birth of a stillborn child, the presence of children with congenital defects in the family history (in the immediate family), endocrine pathologies of both spouses, mother's age.

Symptoms of congenital heart disease

In newborns with congenital heart disease, a bluish or blue color of the lips, auricles, and skin is noted. Also, blueness in a child may occur when he screams or sucks at the breast. A bluish skin color is characteristic of the so-called "blue heart defects", but there are also "white birth defects", in which the child has blanching of the skin, cold hands and feet.

A murmur is heard in the child's heart. This symptom is not the main one, but if it is present, additional examination should be taken care of.

There are cases when the defect is accompanied by heart failure. The prognosis is unfavorable in most cases.

Anatomical pathologies of the heart can be seen on the ECG, echocardiogram, and x-rays.

If a congenital heart defect is not noticeable immediately after birth, the child may look healthy for the first ten years of life. But after that, a deviation in physical development becomes noticeable, cyanosis or pallor of the skin appears, and shortness of breath appears during physical exertion.

Diagnosis of the disease

The doctor makes the primary diagnosis when examining the child and listening to the heart. If there are reasons to suspect congenital heart disease, the child is sent for additional examination. Various diagnostic methods are used, it is also possible to examine the fetus in the womb.

Fetal echocardiography is used to examine a pregnant woman. This is an ultrasound diagnostic that is safe for the mother and fetus, allowing to identify pathology and plan the treatment of congenital heart disease.

Echocardiography is another type of ultrasound examination, but of an already born child, it helps to see the structure of the heart, defects, constricted blood vessels, and evaluate the work of the heart.

Electrocardiography is used to assess cardiac conduction, the work of the heart muscle.

Chest X-ray is used to determine heart failure. So you can see excess fluid in the lungs, expansion of the heart.

Another X-ray method for detecting congenital heart disease is vascular catheterization. A contrast is injected into the bloodstream through the femoral artery and a series of x-rays are taken. So you can assess the structure of the heart, determine the level of pressure in its chambers.

To assess the saturation of blood with oxygen, pulse oximetry is used - using a sensor worn on a child's finger, the level of oxygen is recorded.

Treatment of congenital heart disease

The method of treating a defect is chosen depending on its type. So, minimally invasive procedures with catheterization, open surgery, transplantation, and drug therapy are used.

The catheter technique allows the treatment of congenital heart defects without radical surgical intervention. A catheter is inserted through a vein in the thigh, under X-ray control it is brought to the heart, and special thin instruments are brought to the defect site.

The operation is prescribed if it is not possible to use catheterization. This method differs in a longer and more difficult recovery period.

Sometimes surgical treatment of congenital heart defects, mainly in severe cases, is carried out in several stages.

With defects that cannot be treated, a heart transplant is indicated for the child.

Drug therapy is often used to treat adults, older children. With the help of medicines, you can improve cardiac function, ensure normal blood supply.

Disease prevention

Conditionally, the prevention of congenital heart defects is divided into the prevention of their development, the prevention of their unfavorable development and the prevention of complications.

Prevention of the occurrence of a defect lies more in medical genetic counseling at the stage of preparation for pregnancy than in any specific actions. For example, a woman should be warned about the undesirability of pregnancy in a woman whose family (or partner's family) has three or more people with congenital defects. It is not recommended to give birth to children to a married couple, where both partners suffer from this disease. A woman who has had rubella should be carefully examined.

To prevent the unfavorable development of the disease, it is necessary to carry out the necessary diagnostic procedures in time, to select and carry out the optimal treatment to correct the condition. A child with a congenital defect and who has undergone its treatment needs careful special care. Often, the mortality of children with congenital malformations under the age of one year is associated with insufficient child care.

To prevent complications of the disease, it is necessary to deal with the prevention of these complications directly.

Due to congenital heart disease, there may be: bacterial endocarditis, polycythemia ("blood thickening"), causing thrombosis, headaches, inflammation of peripheral vessels, thromboembolism of cerebral vessels, respiratory diseases, complications from the lungs and their vessels.

Video from YouTube on the topic of the article:

Congenital heart defects are several diseases associated with the presence of anatomical pathology of the heart, its valves and blood vessels, formed during fetal development. These defects cause changes in the systemic and intracardiac circulation, heart overload.

Symptoms of the disease are due to the type of defect, most often cyanosis (cyanosis) or pallor of the skin, lag in physical development, heart murmurs, manifestations of heart and respiratory failure. If the doctor suspected a congenital heart disease, FKG, ECG, EchoCG, and radiography are performed.

Many types of cardiac disorders are combined with each other or other systemic pathologies in the body. In adults, CHD is much less common than in childhood. Identification of violations can occur even in adulthood.

Why are heart pathologies formed?

To begin with, it is necessary to highlight the risk factors that contribute to the formation of heart anomalies:

• mother's age up to 17 years or after 40 years;
• the threat of termination of pregnancy;
• toxicosis of the first trimester;
• endocrine diseases in a pregnant woman;
• stillbirth in history;
• burdened heredity.

The causes of congenital heart defects can be the following: chromosomal abnormalities, exposure to environmental factors, gene mutations, polygene-multifactorial predisposition (heredity).

When laying chromosomes, their structural or quantitative change is possible. In this case, anomalies are noted in various organs and systems, including the cardiovascular system. Trisomy of autosomes usually develops septal defects of the heart.

With mutations of single genes, congenital heart defects are usually associated with other defects of other organs. Then cardiac anomalies are part of autosomal recessive, autosomal dominant, or X-linked syndromes.

During pregnancy (up to three months), negative factors such as ionizing radiation, viral diseases, taking certain medications, occupational hazards and harmful habits of the mother contribute to improper laying of organs.

If the fetus in utero is affected by the rubella virus, then most often the child develops a triad of anomalies - deafness, glaucoma or cataracts, a malformation of the heart.

Also, syphilis, herpes, chicken pox, mycoplasmosis, adenovirus infections, cytomegaly, diabetes, serum hepatitis, toxoplasmosis, tuberculosis, listeriosis, etc., affect the formation of the fetus.

Scientists have found that various drugs affect the development of the heart in utero: progestogens, amphetamines, lithium preparations and anticonvulsants.

Circulatory disorders

Due to the above factors in fetal development, the natural formation of heart structures can be disrupted in the fetus, which causes incomplete closure between the ventricles and atria, pathological formation of valves, abnormal arrangement of blood vessels, etc.

After birth, some babies do not close the oval window and ductus arteriosus

Since the blood circulation inside the mother differs from the hemodynamics of the newborn, the symptoms appear almost immediately after childbirth.

How quickly congenital heart disease manifests itself depends on many factors, including the individual characteristics of the child's body. In some cases, the formation of severe circulatory disorders is caused by a respiratory infection or some other disease.

With cardiac defects of the heart, hypertension of the pulmonary circulation or hypoxemia (low oxygen content in the blood) may appear.

Approximately half of children die without appropriate care in the first year of life from manifestations of heart failure. In babies, after a year, the state of health normalizes, but persistent complications develop. Therefore, in some cases, surgery is necessary at an early age.

Classification of violations

Classification of congenital heart defects based on effects on pulmonary blood flow:

• with increased blood flow: not causing early cyanosis and causing cyanosis;
• with unchanged;
• with depleted: without cyanosis and with cyanosis;
• combined.

There is another classification by groups:

1. White, which, in turn, can be with enrichment or depletion of any circle of blood circulation and without a significant violation of blood circulation.
2. Blue, which come with enrichment or depletion of the small circle.

According to the ICD (International Classification of Diseases), congenital anomalies of the circulatory system occupy positions from Q20 to Q28, it is heart anomalies that are included in Q24.

Complications

Complications of CHD are syncope (fainting), heart failure, pulmonary hypertension, cerebrovascular accident, angina pectoris, bacterial endocarditis, prolonged pneumonia, myocardial infarction, relative anemia, and dyspnea-cyanotic attacks.

Clinical manifestations (symptoms) or how to recognize the disease?

Children refuse to breastfeed, restless, quickly get tired in the process of sucking

Symptoms of congenital heart defects depend on the type of disorders, the time of formation of hemodynamic decompensation and the nature of circulatory disorders.

In infants with a cyanotic type of disease, cyanosis of the skin and mucous membranes is observed. It becomes more pronounced with crying and sucking. White anomalies of the heart are detected by coldness of the hands and feet, pallor of the skin.

They develop tachycardia, sweating, shortness of breath, arrhythmias, pulsation and swelling of the vessels of the neck. With a prolonged violation of hemodynamics, the child lags behind in height, weight and physical development.

Usually, immediately after birth, heart murmurs are heard during auscultation.

Diagnostics

Diagnosis of congenital heart defects is carried out using a comprehensive examination. The first step is to examine the child and auscultate the heart. If there is a suspicion of possible anomalies, then instrumental diagnostic methods are prescribed - phonocardiography, electrocardiography, echocardiography, chest x-ray.

The ECG makes it possible to recognize the hypertrophy of the heart, the presence of conduction disorders and arrhythmias, after the manipulation it becomes easier to judge the severity of the violations. Daily monitoring is possible.

FCG data help to thoroughly assess the duration, nature and location of heart murmurs and tones. Radiography allows you to identify the shape, location and size of the heart, the state of the pulmonary circulation.

Echocardiography is used to examine the valves, septa and great vessels, and to see the contractility of the myocardium.

In complex disorders and pulmonary hypertension, it is possible to perform other diagnostic methods: aorto- or angiocardiography, probing and catheterization of the heart cavities, cardiac MRI, cardiography.

Treatment

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A serious problem in cardiology in children under one year old is the surgical treatment of congenital heart defects. If the child has no symptoms of heart failure, and cyanosis is moderate, then the operation can be postponed to a later date. Babies should be constantly under the supervision of a cardiac surgeon or cardiologist.

The method of treatment is selected depending on the severity and type of CHD. In case of anomalies of the septa of the heart, they are sutured or plastic, X-ray endovascular occlusion of the defect is possible.

In case of severe hypoxemia, for a temporary improvement in the condition of children, intersystemic anastomoses are first performed. As a result, the risk of complications is reduced, blood oxygenation is increased. A radical operation is performed when favorable conditions occur.

With aortic anomalies, resection of the aorta, plastic stenosis is performed. When the aortic duct is opened, it is ligated.

Treatment of complex heart defects, which cannot be completely eliminated, consists in hemodynamic correction. In some cases, the only possible treatment for CHD is a heart transplant.

Drug treatment includes only symptomatic therapy of arrhythmias, acute left ventricular or chronic heart failure, dyspnea-cyanotic attacks, myocardial ischemia.

In addition to treatment, the child needs special attention from parents: proper nutrition, prevention of viral diseases, etc.

The prognosis for early diagnosis and the possibility of treatment is relatively favorable. If it is impossible to carry out the operation - unfavorable.

It is possible to get disability after a radical operation during the rehabilitation period and with symptoms of heart failure stage II B or more.

Prevention

Prevention of CHD includes careful planning of pregnancy, prenatal diagnosis, exclusion of the impact of adverse factors.

Women with heart anomalies need careful attention during pregnancy by doctors and additional consultations and examinations.

Causes of congenital heart defects

There are many different causes of congenital heart disease (CHD).

All of them in combination affect the body of a pregnant woman, disrupting the processes of formation of organs and systems of the fetus. Seasonal fluctuations in the occurrence of CHD are mainly associated with viral epidemics. In particular, the teratogenic (i.e., causing malformations) effect on the fetus of the rubella virus, cytomegalovirus infection, and chicken pox has been accurately proven. There is data of the same nature for influenza viruses, especially if the disease occurs in the first three months of pregnancy. Of course, the presence of only a viral factor for the development of CHD is doubtful. However, the combination of several teratogenic factors increases the risk of CHD. A viral agent can only become a trigger mechanism in the implementation of genetic mechanisms. A certain role in the formation of CHD is assigned to the use of alcohol during pregnancy, and we are talking not only about strong alcohol, but also low-alcohol cocktails, tonics, etc. In women who consume alcoholic beverages, children with CHD are born in 50% of cases. A large role during pregnancy is given to the general somatic health of a woman. Women with systemic diseases (eg, systemic lupus erythematosus), diabetes mellitus, are more likely to have children with CHD.

congenital heart defects

Congenital heart defects (CHD) are defects in the development of this organ that exist at birth. It is caused by abnormal development of the heart or blood vessels near the heart before the baby is born.

The frequency of this pathology is 8 per 1000 children. This is almost 1% of newborn babies.

Despite the fact that heart defects are the main cause of death in the structure of all anomalies, with the growth of advances in the treatment of this pathology, the chances of survival in children have increased.

Causes of congenital malformations

The cause of congenital heart defects is difficult to establish. Experts believe that in 90% of cases, deficiencies are formed under the influence of the combined effect of genetic predisposition (endogenous factor) and environmental factors (exogenous). In 2% of cases, only environmental factors matter.

Endogenous factors include mutations, diseases of the parents, changes in the level of gametes, too young and advanced age of the parents.

The most powerful endogenous (internal) factor is mutations that arose at different periods of the life of the parents of the unborn child at the level of germ cells (gametes) under the influence of various factors. Mutations account for about 10% of heart defects.

Of these, the share of chromosomal mutations - 5-6%, rare gene defects - 3-5%. The most common of these are Down's syndrome, which in 90% of cases is accompanied by an atrial septal defect and the so-called velo-cardiofacial syndrome. Congenital heart defects can occur with a chromosomal pathology such as Down syndrome. 25% of girls with another chromosomal abnormality, the so-called. Shereshevsky-Turner syndrome, have an atrial membrane defect. In the case of trisomy 18 or 13, children often die from congenital heart disease, namely, ventricular septal defect and patent ductus arteriosus.

By the way, another common vascular disease that is most often observed in children over the age of 4 years is hemorrhagic vasculitis. a disease in which the walls of small capillaries become inflamed.

A number of diseases with gene anomalies can be accompanied by anomalies of the heart. These are Marfan syndrome, Smith-Lemle-Opitts, Holt-Oram syndrome, mucopolysaccharidosis. 80% of children with Noonan syndrome and Williams syndrome are born with congenital heart disease. In 50% of cases it is a stenosis of the pulmonary artery. Other genetic syndromes are - Goldenhar's syndrome, VACTERL association (trachea, esophagus, anomalies of the spine, rectum and anus, kidneys, limbs). Most of these syndromes are diagnosed in specialized genetic centers using molecular diagnostic methods.

Some CHD have an autosomal dominant (vertical) transmission pattern. This means that in the case of a congenital heart anomaly in one of the parents, 50% of children, regardless of gender, will be born with heart anomalies. In the presence of burdened heredity, the birth of a child in families where close relatives had similar shortcomings is more likely. If one of the parents himself suffered from congenital heart disease, the risk of having a child with a similar pathology is 10%. If the family already has a child with a congenital anomaly, the risk of having a defect in each subsequent child increases by 4%. If a child has been diagnosed with a chromosomal or other genetic abnormality, genetic counseling can help with prenatal diagnosis and determine the risk of heart defects in future children

The internal factors also include chronic diseases of the mother. The first is diabetes. causing the so-called diabetic embryopathy with CHD, phenylketonuria, epilepsy, lupus erythematosus and folic acid hypovitaminosis. In women with uncompensated diabetes, the chances of giving birth to a child with congenital heart disease increase significantly. It is believed that 3-6% of pregnant women with diabetes mellitus most often give birth to children with transposition of the great vessels. This increased risk applies to both type 1 and type 2 diabetes, but not to gestational diabetes, which is a temporary condition that goes away after the baby is born.

External (exogenous) factors include: physical, chemical and biological. The most important for the occurrence of CHD in a child are chemical and biological.

The group of chemical factors includes medications that increase the risk of having a child with congenital heart disease. These are lithium preparations, some anticonvulsants, hormonal drugs and drugs that disrupt the absorption of folic acid. Women who take an anti-inflammatory drug like ibuprofen are twice as likely to have a baby with congenital heart disease. Paracetamol is a safer alternative in this case, although any medication should ideally be avoided during pregnancy, especially in the three months before conception and during the first trimester of pregnancy. If it is impossible not to take the drug, you should coordinate the drug with an experienced doctor whom you trust.

This group also includes teratogens such as alcohol, smoking and drugs. Children born with fetal alcohol syndrome often have heart problems. Typically, this is an atrial septal defect. According to studies, women who smoke are 60% more likely to give birth to children with an abnormal structure of the heart and blood vessels. Passive smoking has the same effect, since a third of harmful substances enter the environment. In relation to narcotic substances, cocaine has the same effect.

Chemical factors also include organic solvents, which increase the risk of having a child with a defect in the heart and blood vessels three times.

Of the biological factors, viral infections are dangerous. If a woman gets rubella during pregnancy (in the first 8-10 weeks), the risk of developing congenital heart disease increases to 35%. All women of reproductive age should be vaccinated against rubella, after which they avoid pregnancy for 1 month after vaccination. Women who have had influenza in the first trimester of pregnancy are twice as likely to give birth to babies with defects in the heart and blood vessels.

Most UPUs cannot be prevented. But if you follow the diet and the right therapy for chronic diseases, timely treatment of intrauterine infections (rubella, toxoplasmosis), HIV infection in the mother, these problems can be avoided. To have a healthy baby, a woman must stop using substances such as alcohol, smoking, and dangerous drugs three months before conception.