Ebstein's anomaly: causes, symptoms, diagnosis, treatment

One of the rare heart defects is the anomaly of Ebstein. This is a congenital disease in which the tricuspid heart valve is moved to the right ventricle, although it must be located on the border between the ventricle and the atrium. It is located much lower in blood flow.

Anatomical features

The anomaly of Ebstein leads to the fact that the cavity of the right ventricle becomes smaller, and the right atrium is more than normal. Valve flaps are also different. They may be incorrectly developed or biased. The development of the whole chordal and muscular apparatus, which drives the tricuspid apparatus, is disrupted.

Because of the small size of the right ventricle, less blood is released from it. And the increased size of the right atrium is due to the fact that part of the venous blood enters it.

Many patients with Ebstein's anomaly are also diagnosed with an atrial septal defect and an open oval window. This companion vice for many is life-saving. Through the defect of the septum from the overflowed right atrium, blood is discharged. True, with venous blood in the left atrium mixed with the arterial blood. This causes oxygen starvation of tissues and organs.

Causes of the disease

Less than 1% of people with congenital heart disease diagnosed with an abnormality Ebstein. The reasons for its development could not be determined accurately. According to the assumptions, it appears due to genetic anomalies. Also, according to one version, such a development of the heart muscle can lead to the reception during pregnancy of preparations containing lithium salts.

This congenital disease is accompanied in 50% of cases by a defect of the interatrial septum. In other cases there is a rhythm disturbance. To understand why these or other combinations of heart defects occur, doctors have not yet succeeded.

Possible variants of the disease course

Ebstein's anomaly is a critical congenital heart disease. It occurs both in boys and in girls. The course of the disease and the prognosis will depend on the degree of deformation of the tricuspid valve. Also important are the pathophysiological changes that occurred in the right atrium and ventricle.

In some cases, the malformation significantly impairs the blood circulation of the fetus. Heart failure develops, hydrocephalus develops, and in 27% of cases the intrauterine death of the child occurs. At a deep pathology after a birth babies perish during the first month of a life. According to statistics, this is about 25% of all children who have found an abnormality of Ebstein. Diagnosis during pregnancy can be established as early as the 20th week.

About 68% of newborns with this pathology survive to six months, and up to 5 years - 64% of children. This group includes babies, whose tricuspid valve and right ventricular function is satisfactory. They die in most cases from progressive heart failure and rhythm disturbances.

Classification of disease types

Specialists distinguish several stages of the disease, known as the anomaly of Ebstein. Symptoms will depend on how great the defeat of the heart. The most rare is the asymptomatic stage. Such patients may not even suspect of pathology and lead a normal lifestyle. They tolerate physical activity well.

In the second stage, clinical manifestations are pronounced. This anomaly is manifested even in childhood and proceeds quite hard. Separately, the stages are:

- II a - it is characterized by absence of disturbances of a warm rhythm;

- II b - seizures occur frequently.

The third stage is the period of persistent decompensation. It is diagnosed in cases when the body is not able to compensate the activity of the heart with any auxiliary mechanisms.

Clinical picture of the disease

At birth, children with Ebstein's anomaly are cyanotic. Cyanosis in 2-3 months of life decreases due to the fact that the resistance of the vessels of the lungs decreases. But in children with a slight defect in the cardiac septum, the risk of a lethal outcome from complications of cyanosis and progressive heart failure increases.

In children with Ebstein's anomaly, the following signs are often observed:

- shortness of breath even during rest period;

- swelling that can be seen on the lower limbs;

- increased fatigue, especially noticeable during physical exertion;

- cardiac arrhythmias;

- cyanosis of the skin and lips.

Cyanosis appears in children earlier than symptoms of heart failure. Older children may complain of recurrent attacks of increased heart rate.

Diagnosis of the disease

In some cases, the disease is determined even during pregnancy or immediately after birth in the hospital. There are several characteristic signs on which the doctor can suspect that the child has an abnormality of Ebstein. Diagnosis includes auscultation, chest X-ray, echocardiography, ECG. All these methods combine to accurately establish the diagnosis.

With auscultation, the doctor can hear a characteristic rhythm, it can be three or four times. It muffles the high-frequency quiet systolic murmur of tricuspid insufficiency. In addition, pronounced is the splitting of the second tone, it does not change when breathing. At the top of the left edge of the sternum should be heard mesodiastolic creaking quiet noise.

On radiography, an enlarged cardiac shadow is visualized, this is due to a significant increase in the right atrium. The vascular pattern of the lungs is usually pale. The heart often takes the form of a ball.

Changes are observed on the ECG. The cardiogram shows signs of right atrial hypertrophy, the PQ interval is extended, and a complete or partial blockage of the right leg of the bundle is observed .

On the echocardiography, you can see the wide opening of the tricuspid valve. The barrier is displaced towards the apex.

Tactics of actions with a congenital anomaly

After the diagnosis is established and the degree of defeat is determined, treatment is selected. Of course, such patients need surgery. The only exception is the small group of patients who have an asymptomatic abnormality of Ebstein.

Treatment is carried out depending on other attendant problems. If the patient has experienced a normal infantile age, the operation can be postponed until the symptoms of cardiac failure become pronounced.

All children with this problem should observe a pediatric cardiologist who specializes in congenital heart disease. Also, his condition should be controlled by cardiac surgeons.

If the patients showed a decrease in pulmonary blood flow and signs of heart failure are observed, infusions of ionotropic drugs, group E simplegoldins are prescribed. Also, correction of metabolic acidosis is indicated. Such treatment allows to increase cardiac output and to reduce compression of the left ventricle by the expanded right side.

In those cases when there is a tachycardia, it is necessary to conduct therapy with special antiarrhythmic drugs.

Indications for surgical intervention

During the newborn period, they try not to have surgery. But it is necessary in those cases when right ventricular dysplasia is pronounced and is accompanied by violations of antegrade blood flow into the pulmonary channel. At the same time there is a sharp expansion of the right divisions and simultaneous compression of the left ventricle.

Relative contraindications include age up to 4-5 years. But, if necessary, the operation is performed on the newborn. Also, there is no surgery for those who have had organic irreversible changes in the internal organs.

Patients who had found an abnormality of Ebstein, without surgery can live on an average of 20 years. Their death, as a rule, is sudden. It occurs because of ventricular fibrillation of the heart.

Operation

Only with the help of surgical intervention can the situation be completely corrected. In this case, doctors recommend, if possible, to do it at an older age because of too small a heart in infancy.

The operation is carried out on the open heart, for the realization of the possibility of its carrying out organize the process of artificial circulation. The superficial part of the right atrium is sutured, and the tricuspid valve seams rise to a position that is close to normal. In cases where this is not possible, it is removed and replaced with a prosthesis. This allows us to forget that the patient had an Ebstein anomaly. In adult patients, prosthetics are possible, but children under 15 years old are made with a plastic valve.

Mortality during operations does not exceed 2-5%. The probability of a lethal outcome depends both on the experience of the cardiac surgeon and on the severity of the defect. In almost 90% of cases, patients can return to their normal lifestyle during the year.

Special attention should be given to such patients by anesthesiologists. After all, a special approach is required to patients who have Ebstein's anomaly. The features of anesthesia should be known to the physician. He must take into account that the pressure in such patients can be unstable. Therefore, the anesthesiologist observes his patients after the operation.

Types of prostheses

In most cases, it is possible to decide how the operation will be performed only when the patient is already on the operating table. If it is possible to hold the valve plastic, then this option is preferred. But there are situations when you need a prosthesis for patients who have Ebstein's anomaly. This is called an artificial valve, which looks like a ring, covered with a synthetic pillow. Inside it is a mechanism that can open and close the so-called gateway. It can be mechanical or biological. The first option is made of titanium alloy, and the second one can be made from a pig valve or from a human heart shroud.

When installing a mechanical valve, the patient must constantly drink medications that dilute the blood, but if the regime is observed, it can last longer. Biological device is less durable.