Heart defects congenital

Heart defects are congenital - intrauterine anomalies of heart development (including its valves, partitions) and large vessels. Their frequency varies in different regions, on average they are observed in about 7 out of 100 live newborns; In adults they are much less common. In a small part of cases, congenital malformations are of a genetic nature, the main reasons for their development are exogenous effects on organogenesis mainly in the first trimester of pregnancy (viral, eg rubella, and other maternal diseases, alcoholism, use of certain drugs, exposure to ionizing radiation, etc. .). All congenital malformations can be complicated by infective endocarditis with the advent of additional valvular lesions.

Classification. Several classifications of congenital heart defects have been proposed, the common one for which is the principle of subdivision of defects according to their effect on hemodynamics. The most generalized systematization of vices is characterized by their unification, mainly by the effect on pulmonary blood flow, in the following 4 groups.

1. Malformations with unchanged (or little changed) pulmonary circulation: cardiac abnormalities, aortic arch anomalies, coarctation of an adult type, aortic stenosis, aortic valve atresia; Failure of the valve of the pulmonary trunk; Mitral stenosis, atresia and valve failure; Atrial heart, coronary artery defects and conduction system of the heart.

2. Defects with hypervolemia of the small circle of the circulation:

   • Not accompanied by early cyanosis - open arterial duct, defects of interatrial and interventricular septum, Lutambash syndrome, aortolegoic fistula, coarctation of aorta of children's type;

   • Accompanied by cyanosis - tricuspidal atresia with a large defect of the interventricular septum, an open arterial duct with severe pulmonary hypertension and a flow of blood from the pulmonary trunk to the aorta.

3. Flaws with hypovolemia of the small circle of the circulation:

   • Not accompanied by cyanosis - isolated stenosis of the pulmonary trunk;

   • Accompanied by cyanosis - triad, tetrad and pentad of Fallot, tricuspid atresia with narrowing of the pulmonary trunk or small defect of the interventricular septum, Ebstein's anomaly (displacement of the tricuspid valves in the right ventricle), hypoplasia of the right ventricle.

4. Combined vices with disruption of relationships between different parts of the heart and large vessels: transposition of the aorta and pulmonary trunk (complete and corrected), their separation from one of the ventricles, the Taussig-Bing syndrome, a common arterial trunk, a three-chambered heart with a single ventricle,

The resulted unit of defects is of practical importance for their clinical and especially radiographic diagnosis, since the absence or presence of changes in hemodynamics in a small circle of circulation and their character allow attributing the defect to one of the groups I-III or to assume the defects of group IV, , As a rule, angiocardiography. Some congenital heart defects (especially group IV) are very rare and only in children. In adults, the anomalies of the location of the heart (first of all, dextrocardia), anomalies of the aortic arch, its coarctation, aortic stenosis, open arterial duct, defects of the interatrial and interventricular septums are more often revealed in adults from the defects of groups 1-II; Of the defects of group III - isolated stenosis of the pulmonary trunk, triad and tetralogy of Fallot.

Clinical manifestations and course are determined by the type of defect, the nature of hemodynamic disorders and the timing of the onset of decompensation of the circulation. Defects accompanied by early cyanosis (the so-called "blue" defects) appear immediately or soon after the birth of the child. Many vices, especially groups 1 and 2, have asymptomatic course for many years, are detected accidentally during a preventive medical examination of the child, or when the first clinical signs of hemodynamic disorders are already in the mature age of the patient. Defects of groups III and IV can relatively early be complicated by cardiac insufficiency, leading to a fatal outcome.

The diagnosis is established by a comprehensive examination of the heart. Auscultation of the heart is important for the diagnosis of the type of defect mainly in the case of valvular defects similar to those acquired, ie, in the presence of valve failure or stenosis of the valve openings, to a lesser extent, with an open arterial duct and an interventricular septal defect. The primary diagnostic examination for suspected congenital heart disease necessarily includes electrocardiography, echocardiography and radiology of the heart and lungs, which in most cases allow the identification of a set of lines (with echocardiography) and indirect signs of a certain defect. In the case of an isolated valvular lesion, a differential diagnosis is performed with the acquired defect. A more complete diagnostic examination of the patient, including if necessary angiocardiography and sounding of the chambers of the heart, is performed in a cardiosurgical hospital.

Treatment is only surgical. In the case when the operation is impossible, the patient is prescribed a regime of limited physical activity, which removes the time for decompensation of the defect, and when the onset of heart failure, the symptomatic treatment is mainly performed. Some congenital heart defects (main group 1 of group 1) do not require special treatment.

The following are some of the congenital heart defects that occur most often in adults.

Dextrocardia is the dystopia of the heart in the thoracic cavity with the location of most of it to the right of the midline of the body. Such anomaly of the location of the heart without inversion of its cavities is called dextrowersia. The latter is usually combined with other congenital heart defects. The most common is dextrocardia with atrial and ventricular inversion (it is called true, or mirrored), which can be one of the manifestations of complete reverse placement of internal organs. Mirror dextrocardia is not combined, as a rule, with other congenital heart defects, hemodynamic disorders are absent in it.

The diagnosis is assumed when a right apical impulse of the heart and corresponding changes in percussion boundaries of relative cardiac dullness are detected. Confirm the diagnosis of electrocardiographic and radiographic studies. On the ECG with true dextrocardia, the teeth P, R and Tv of the leads aVL and 1 are directed downward, and in the lead aVR-upward, ie, the picture observed in a healthy person is observed when the electrode arrangement on the left and right hand is interchanged; In the thoracic leads the amplitude of the teeth R in the direction of the cool leads does not increase, but decreases. ECG takes the usual form, if the electrodes on the extremities are interchanged, and the pectorals are placed in symmetrical left-right positions.

Radiographically, a mirror image of the cardiovascular fascicle is determined; With the right contour of the heart shadow formed by the left ventricle, and the left - by the right atrium. With the complete reverse arrangement of the organs, the liver palpable, percutaneously and radiologically detected on the left; Should be remembered and informed by the gods that with this anomaly the appendix is ​​located on the left.

Treatment for dextrocardia, which does not combine with other heart defects, is not performed.

Defect of the interventricular septum is one of the most frequent congenital heart defects, including in adults. The defect is localized in the membrane or muscular part of the septum, sometimes the septum is completely absent. If the defect is located above the supragastric crest at the root of the aorta or directly in it, this aortic valve is usually accompanied by a deficiency of the aortic valve.

Hemodynamic disorders associated with the defect of the septum are determined by its size and pressure ratio in the large and small circles of the circulation. Small defects (0.5-1.5 cm) are characterized by discharge through a defect from left to right of small volumes of blood, which practically does not disturb hemodynamics. The greater the defect and the volume of blood discharged through it, the earlier there is hypervolemia and hypertension in the small circle, sclerosis of the pulmonary vessels, overloading the left and right ventricles of the heart with the outcome of heart failure. The most severe bleeding occurs with high pulmonary hypertension (Eisenmenger complex) with a discharge of blood through the defect from right to left, which is accompanied by severe arterial hypoxemia.

Symptoms of a defect with a large defect appear in the first year of life: children are lagging behind in development, inactive, pale; As the growth of pulmonary hypertension appears dyspnea, cyanosis with the load, formed a heart hump. In III-IV intercostal space, the systolic murmur and the corresponding systolic tremor are determined along the left side of the sternum. There is an increase and emphasis and tone of the heart over the pulmonary trunk. Half of patients with large septal defects do not survive until 1 year due to the development of severe heart failure or the attachment of infective endocarditis.

With a small defect in the muscular part of the septum (Tolochinov-Roger's disease), the defect for many years can be asymptomatic (children develop normally mentally and physically) or manifest primarily with frequent pneumonia. In the first 10 years of life, a spontaneous closure of a small defect is possible; If the defect remains, in subsequent years, gradually increases pulmonary hypertension, leading to heart failure. The intensity of systolic noise depends on the volume rate of discharge of blood through the defect. As the increase in pulmonary hypertension, the noise weakens (it may disappear altogether), while the intensification and accent of the tone over the pulmonary trunk increase; In some patients Graham Still's diastolic noise appears due to the relative lack of pulmonary stenosis. Diastolic noise can also be caused by a deficiency of the aortic valve accompanying the defect, the presence of which should be considered with a significant decrease in diastolic and an increase in pulsatile blood pressure, early appearance of signs of marked left ventricular percutrophy.

Diagnosis of the defect of the interventricular septum is established according to color Doppler echocardiography, left ventriculography and heart probing. Changes in the ECG and data from the radiographic examination of the heart and lungs are different for different sizes of the defect and different degrees of pulmonary hypertension; Correctly to assume the diagnosis they help or assist only at obvious signs of a hypertrophy of both ventricles and the expressed hypertensia of a small circle of a circulation.

Treatment for small defects of pulmonary hypertension is often not required. Surgical treatment is indicated for patients in whom the discharge of blood through a defect is more than 1/3 of the volume of pulmonary blood flow. The operation is preferably performed at the age of 4 to 12 years, if it is not performed earlier on urgent indications. Small defects are sutured, with large defects (more than the area of ​​the interventricular septum), their plastic closure is made with patches made of Aupericardium or polymeric materials. Recoveries are achieved in 95% of operated patients. With concomitant insufficiency of the aortic valve, it is performed by the patient.

Atrial septal defect among adults is more common in women. Low defects of the primary septum, in contrast to high defects of the secondary septum, are located at the atrioventricular valves and are combined, as a rule, with abnormalities of their development, including, sometimes with congenital mitral stenosis (Lutambash syndrome).

Hemodynamic disturbances are characterized by the discharge of blood through a defect from the left to the right atrium, which leads to an overload of volume (the greater the greater the defect) of the right ventricle and the small circle of blood circulation. However, due to the adaptive decrease in the resistance of the pulmonary vessels, the pressure in them changes little until the stage when their sclerosis develops. At this stage, pulmonary mertenzia can grow quite rapidly and lead to a reversion of the shunt through a defect - a discharge of blood from right to left.

Symptoms of a defect with a small defect may be absent for decades. A more typical limitation is the tolerability of high physical exertion due to the appearance of shortness of breath, a feeling of heaviness or heart rhythm disturbances, and an increased tendency to respiratory infections. As the increase in pulmonary hypertension, the main complaint is dyspnoea with less and less exercise, and when the shunt reverses, cyanosis appears (initially, periodic with exercise, then persistent), and the manifestations of right ventricular heart failure gradually increase. Patients with a large defect may have a heart hump. Auscultation is determined by the splitting and accent of the 11th tone over the pulmonary trunk, in some patients - systolic murmur in the IR intercostal space to the left of the sternum, which is strengthened by the retention of breath on exhalation. Possible atrial fibrillation, not characteristic of other congenital heart defects.

The diagnosis is assumed when symptoms of severe right ventricular hypertrophy (including echo- and electrocardiography) are expressed along with the symptoms described, radiologically identifiable signs of hypervolemia of the small circle of blood circulation (intensification of the pulmonary arterial pattern) and characteristic pulsation of the lung roots. Doppler echocardiography may have a significant diagnostic value. Differential diagnosis is most often performed with primary pulmonary hypertension (with a pulmonary depletion pattern) and with mitral stenosis. Unlike the latter, with an atrial septal defect, there is no significant dilatation of the left atrium; In addition, mitral stenosis is reliably excluded by echocardiography. Finally, confirm the diagnosis of catheterization of the atria, as well as angiocardiography with the introduction of contrast in the left atrium.

Treatment - suturing or plastic defect. Unoperated patients live on average about 40 years.

Coarctation of the aorta - narrowing of the aortic isthmus at the border of its arc and descending section, usually lower (in 90% of cases) of the left subclavian artery. It occurs mainly in men. There are two main types of defect: adult (isolated coarctation of the aorta) and children - with an open arterial duct. At a children's type distinguish product (above branch of a duct) and post-ductal (below a branch of a duct) coarctation.

Hemodynamic disorders in adult type of defect are characterized by increased left ventricular work to overcome resistance in the aorta, increase in blood pressure proximal to coarctation and its decrease in distal arteries, including renal arteries, which includes renal mechanisms of development of arterial hypertension, which increases the load on the Left ventricle. In pediatric type with post-co-operative coarctation, these changes are supplemented by significant hypervolemia of the small circle of blood circulation (due to the increase under the influence of high blood pressure through the duct to the right) and increased pressure on the right ventricle of the heart. In the case of a pre-oral variant of coarctation, the discharge of blood through the duct is directed from right to left.

Symptoms of vice become clearer with age. Patients complain of the chilliness of feet, fatigue of the feet when walking, running, often on headaches, palpitations in the form of strong strokes, sometimes nasal bleeding. A street over 12 years is often noticeable predominance of physical development of the shoulder girdle with thin legs, a narrow pelvis ("athletic body"). Palpatorically, there is an increased apical pulse of the heart, sometimes also pulsations of the intercostal arteries (through which collateral blood supply to the tissues is carried out), occasionally systolic tremors in the PTH of the intercostal spaces. In many cases, systolic murmur is heard at the base of the heart, the features of which are remoteness from 1 heart tone and Holding on the brachiocephalic arteries and in the interscapular space. The main symptom of the defect is a lower BP on the legs than on the hands (in the norm the ratio is the opposite). If blood pressure and arterial pulse are also reduced on the left arm (in comparison with their value on the right arm), coarctation proximal to the left subclavian artery can be assumed. ECG changes correspond to left ventricular hypertrophy, but in the childhood type of blemish, the electrical axis of the heart is usually deflected to the right.

The diagnosis is based on a specific difference in blood pressure on the arms and legs and is confirmed by X-ray studies. On the roentgenogram in more than half of the cases, the usurization of the lower edges of the ribs is revealed by dilated mesentery arteries and sometimes the narrowing of the aortic isthmus is clearly visible. In the cardiosurgical hospital, the diagnosis is confirmed by aortography and a study of the difference in blood pressure in the ascending and descending sections of the aorta by catheterization.

Treatment consists in excision of the narrowed aorta site with a denture of his aorta or the creation of an anastomosis end in the convector or in the operation of creating a shunt. The optimal age for surgery with a favorable current defect is 8 - 14 years.

An open arterial (botalla) duct is a defect caused by the non-erection after the birth of a child of the vessel that connects the aorta to the pulmonary trunk from the fetus. Occasionally, it is combined with other congenital malformations, especially often with a defect of the interventricular septum.

Hemodynamic disorders are characterized by the discharge of blood from the aorta into the pulmonary trunk, which leads to pseudovolemia of the small circle of blood circulation and increases the load on both ventricles of the heart.

Symptoms with little flow can be absent for a long time; Children develop normally. The larger the duct cross-section, the earlier the child's developmental lag, fatigue, propensity to respiratory infections, shortness of breath when exercising. Children with a large volume of discharge through the duct early develop pulmonary hypertension and heart failure, refractory to treatment. In typical cases, pulse BP is markedly increased due to both the growth of systolic and, especially, reduction in diastolic blood pressure. The main symptom is a continuous systolo diastolic noise ("train noise in a tunnel", "engine noise") in 1! Cannabis to the left of the sternum, which weakens at a deep inspiration, and when breathing is delayed on exhalation increases. In some cases only systolic or diastolic murmurs are heard, and the noise weakens with the increase in pulmonary hypertension, sometimes they are not listened. In rare cases of significant pulmonary hypertension with a change in the direction of discharge through the duct, a diffuse cyanosis appears with a predominant expression on the toes.

The diagnosis is absolutely corroborated by aortography (catheterization of the contrast through the duct) and by catheterization of the heart and pulmonary trunk (pressure and oxygen saturation in the pulmonary trunk is noted), but it is quite reliably established without these studies by Doppler echocardiography (shunt flow registration) and X-ray examination . The latter reveals an increase in the pulmonary pattern due to the arterial bed, swelling of the arch (expansion) of the pulmonary trunk and aorta, their increased pulsation, and an increase in the left ventricle.

Treatment consists in ligation of the open arterial duct.

Stenosis of the aorta, depending on its location, is subdivided into a supra-valvular, valvular (most frequent) and sub-valvular (in the left ventricular outflow tract).

Hemodynamic disorders are formed by preventing the flow of blood from the left ventricle into the aorta, creating a pressure gradient between them. From the degree of stenosis, the level of the left ventricular overload, which leads to its hypertrophy, depends, and in the later stages of the defect - to decompensation. Supravalvular stenosis (reminiscent of coarctation) is usually accompanied by changes in the intima of the aorta, which can extend to the brachiocephalic arteries and coronary arteries, violating the blood flow in them.

Symptoms of valvular stenosis and the principles of its diagnosis and treatment are the same as with acquired aortic stenosis (see Heart defects acquired). With rare sublingual stenosis, characteristic changes in the appearance of patients (low ears, bulging lips, strabismus) and signs of mental retardation are described.

Stenosis of the pulmonary trunk is more often isolated, also combined with other anomalies, in particular, with defects of the septa. The combination of the stenosis of the pulmonary trunk with the possible atrial post is called the triad of Fallot (the third component of the triad is right ventricular hypertrophy). In most cases, isolated stenosis of the pulmonary trunk is valvular, infundibular (subvalvular) isolated stenosis and stenosis, caused by hypoplasia of the valve ring, are very rare.

Hemodynamic disorders are determined by high resistance to blood flow in the stenosis zone, which leads to overload, hypertrophy, and then degeneration and decompensation of the right ventricle of the heart. As the pressure in the right atrium increases, it is possible to open the oval window with the formation of interatrial communication, but more often the latter is due to the concomitant defect of the septum or the congenital oval window.

Symptoms of mild isolated stenosis appear in a few years, during which children develop normally. Relatively early are shortness of breath during physical exertion, fatigue, sometimes dizziness, a tendency to fainting. Subsequently, pain behind the sternum, palpitation, dyspnea occur. With severe stenosis, children develop early right ventricular heart failure with the appearance of peripheral cyanosis. The presence of diffuse cyanosis indicates interatrial communication. Objectively, signs of hypertrophy of the right ventricle (cardiac shock, often the heart hump, palpable pulsation of the ventricle in the epigastric region); Coarse systolic murmur and systolic tremor in the 2nd intercostal space to the left of the sternum, cleavage of the second tone with a weakening of it over the pulmonary trunk. On the electrocardiogram signs of hypertrophy and overload of the right ventricle and auricle are determined. X-ray revealed their increase, as well as impoverishment of the pulmonary pattern, sometimes also poststenotic expansion of the pulmonary trunk.

The diagnosis is refined in the cardiosurgical hospital by cardiac catheterization with measurement of the pressure gradient between the right ventricle and the pulmonary trunk and right ventriculography.

Treatment is valvuloplasty, which is combined with the triad of Fallot with the closure of interatrial communication. Valvulotomy is less effective.

The tetralogy of Fallot is a complex congenital heart disease characterized by a combination of pulmonary stenosis with a large ventricular septal defect and aortic dextroposition, as well as severe right ventricular hypertrophy. Sometimes the vice is combined with a defect of the interatrial septum (pallada Fallot) or with an open arterial duct.

Hemodynamic disorders are determined by the stenosis of the pulmonary trunk (see above) and the defect of the interventricular septum. Typical hypovolemia of the small circle of blood circulation and discharge of venous blood through the defect of the septum into the aorta, which is the cause of diffuse cyanosis. Less often (with a small stenosis of the trunk), blood is discharged through the defect from left to right (the so-called pallid form of the tetralogy of Fallot).

Symptoms of malformation are formed in early childhood. In children with severe tetralogy of Fallot, diffuse cyanosis appears in the first months after birth: first with crying, crying, but soon becomes persistent. More often, cyanosis appears in the time when the child begins to walk, sometimes only at the age of 6 - 10 years (later appearance). For a severe course, attacks of a sharp increase in dyspnea and cyanosis, in which coma and death from disorders of cerebral circulation are possible, are characteristic. At the same time, the tetralogy of Fallot is one of the few "blue" vices that occur in adults (mostly young). Patients complain of shortness of breath, chest pain (experiencing relief in squatting position), a tendency to fainting. The examination reveals diffuse cyanosis, nails in the form of watch glasses, a symptom of the tympanic fingers, a lag in physical development. In the 11 intercostal spaces, to the left of the sternum, usually a rough systolic murmur is heard, and systolic tremor is sometimes determined there; And the tone above the pulmonary trunk is weakened. On the ECG there is a significant deviation of the electric axis of the heart to the right. Radiographic examination shows a depleted pulmonary pattern (with well-developed collaterals it can be normal), a decrease or absence of the arc of the pulmonary trunk and characteristic changes in the contours of the cardiac shadow: in the direct projection it has the shape of a wooden shoe; in the second oblique position, the small left ventricle is located in the form Hats on the enlarged right heart.

The diagnosis is based on the typical complaints and appearance of patients with a history of the appearance of cyanosis in early childhood. The final diagnosis of the defect is based on angiocardiography and cardiac catheterization data.

Treatment can be palliative - the imposition of aorto-pulmonary anastomoses. Radical correction of the defect consists in the elimination of stenosis and closure of the defect of the interventricular septum.