The danger of congenital heart disease - Ebstein's anomalies - and modern treatments in newborns, children and adults. Ebstein's anomaly - a rare heart disease with dangerous consequences Congenital heart disease Epstein syndrome

One of the rare heart defects is Ebstein's anomaly. It is a congenital disorder in which the heart is moved to the right ventricle, although it must be on the border between the ventricle and the atrium. It is located much lower in the bloodstream.

Anatomical features

Ebstein's anomaly leads to the fact that the cavity of the right ventricle becomes smaller, and the right atrium - over normal... also differ. They may be incorrectly developed or misaligned. The development of the entire chordal and muscular apparatus, which sets the tricuspid apparatus in motion, is impaired.

Due to the small size of the right ventricle, less blood is expelled 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 foramen ovale. This concomitant vice is life-saving for many. A defect in the septum from the overflowing right atrium is a discharge of blood. True, in this case, venous blood in the left atrium is mixed with arterial. This becomes the cause of oxygen starvation of tissues and organs.

The reasons for the development of the disease

Less than 1% of people with congenital heart defects are diagnosed with Ebstein's anomaly. It was not possible to determine the exact reasons for its development. It is believed that it appears due to genetic abnormalities. Also, according to one of the versions, such a development of the heart muscle can be caused by taking medications containing lithium salts during pregnancy.

This congenital disease is accompanied in 50% of cases by an atrial septal defect. In other cases, rhythm disturbance is noted. To figure out why certain combinations of heart defects occur, doctors have not yet been able to.

Possible options for the course of the disease

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

In some cases, the defect significantly disrupts the fetal circulation. Heart failure occurs, dropsy develops, and in 27% of cases, intrauterine death of the child occurs. With deep pathology after birth, babies die within the first month of life. According to statistics, this is about 25% of all children in whom Ebstein's anomaly was found. The diagnosis during pregnancy can be established as early as the 20th week.

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

Classification of disease types

Experts distinguish several stages of the disease, known as Ebstein's anomaly. Symptoms will depend on how bad the heart is. The most rare is the asymptomatic stage. Such patients may not even be aware of the pathology and lead a normal life. They tolerate physical activity well.

In the second stage clinical manifestations pronounced. This anomaly manifests itself in childhood and is quite difficult. The stages are distinguished separately:

II a - it is characterized by the absence of cardiac arrhythmias;

II b - attacks are common.

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

The clinical picture of the disease

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

Children with Ebstein's anomaly often have the following symptoms:

Shortness of breath even during rest;

Swelling that is visible on the lower limbs;

Increased fatigue, especially noticeable with physical activity;

Heart rhythm disorders;

Cyanosis of the skin and lips.

Cyanosis appears in children earlier than symptoms of heart failure. Older children may complain of periodic bouts of increased heartbeat.

Diagnosis of the disease

In some cases, the disease is determined even during pregnancy or immediately after birth in the hospital. There are several indications that a doctor may suspect a child has an Ebstein anomaly. Diagnostics includes auscultation, radiography chest, EchoCG, ECG. All these methods in combination allow you to accurately establish the diagnosis.

On auscultation, the doctor can hear a characteristic rhythm, it can be three or four times. It drowns out high-frequency silent tricuspid insufficiency. In addition, the splitting of the second tone is pronounced; it does not change with breathing. A meso-diastolic squeaky quiet noise should be heard at the apex of the left sternal border.

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 also observed on the ECG. The cardiogram shows signs of right atrial hypertrophy, the PQ interval is lengthened, and there is a complete or partial right leg block

On echocardiography, a wide opening of the tricuspid valve can be seen. The septal flap is displaced towards the apex.

Tactics of action for congenital anomaly

After establishing the diagnosis and determining the extent of the lesion, treatment is selected. Of course, such patients need surgery... The only exception is that small group of patients who have asymptomatic Ebstein's anomaly.

Treatment is based on other related problems. If the patient survives normally, then the operation can be postponed until pronounced symptoms of heart failure appear.

All babies with this problem should be monitored by a pediatric cardiologist who specializes in congenital heart defects. Also, his condition should be monitored by cardiac surgeons.

If patients have a pronounced decrease in pulmonary blood flow and there are signs of heart failure, then infusion of ionotropic drugs, prostagladins of group E is prescribed. Correction of metabolic acidosis is also indicated. This treatment allows you to increase cardiac output and to reduce the compression of the left ventricle by the enlarged right side.

In cases where tachycardia is observed, it is necessary to carry out therapy with special antiarrhythmic drugs.

Indications for surgery

They try not to have surgery. But it is necessary in cases where right ventricular dysplasia is pronounced and accompanied by impaired antegrade blood flow to the pulmonary bed. At the same time, there is a sharp expansion of the right sections and simultaneous compression of the left ventricle.

Relative contraindications include age up to 4-5 years. But if necessary, the operation is performed on newborns. Also, no surgical intervention is carried out for those who have organic irreversible changes in the internal organs.

Patients who have been diagnosed with Ebstein's anomaly can live up to an average of 20 years without surgery. Their death, as a rule, is sudden. It comes from the heart.

Operation

Only with the help of surgical intervention can the situation be completely corrected. At the same time, doctors recommend, if possible, to do it at an older age due to the too small size of the heart in infancy.

The operation is performed on open heart, for the implementation of the possibility of its implementation, they organize the process of artificial blood circulation. The excess part of the right atrium is sutured, and the tricuspid valve is raised with sutures 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 you to forget that the patient had an Ebstein anomaly. In adult patients, it is possible to undergo prosthetics, but for children under 15 years of age, valve plastic is done.

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

Particular attention should be paid to such patients by anesthesiologists. After all, a special approach to patients with Ebstein's anomaly is required. The specifics of anesthesia must be known to the doctor. He should take into account that the pressure in such patients may be unstable. Therefore, the anesthesiologist monitors his patients after surgery.

Types of prostheses

In most cases, it is possible to decide exactly how the operation will be performed only when the patient is already on the operating table. If it is possible to carry out the plastic of the valve, then this option is preferred. But there are situations when a prosthesis is needed for patients who have Ebstein's anomaly. So called artificial valvethat looks like a ring covered with a synthetic cushion. 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 from a titanium alloy, while the second can be made from a pig valve or from the fabric of a human heart shirt.

When installing a mechanical valve, the patient needs to constantly drink blood thinning medications, but if the regime is observed, it can function longer. The biological device is less durable.

The pathological structure of the tricuspid valve, its attachment downward (inside the right ventricle) is called Ebstein's anomaly. This defect is congenital. Children are born weakened, there is difficulty in breathing and cyanosis of the skin. Paroxysmal tachycardia and circulatory insufficiency often join. Treatment requires an operation to replace the valve and reconstruct the opening between the chambers of the right half of the heart.

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Causes of development in the fetus

The following factors for the development of fetal anomalies have been proven:

• taking by a pregnant woman drugs containing lithium salts;
• rubella virus, measles;
• scarlet fever;
• diabetes;
• thyrotoxicosis;
• alcoholism;
• the use of psychotropic medications;
• toxicosis of the gestational period;
• the threat of termination of pregnancy;
• hereditary predisposition.

The action of infections and intoxications in the first trimester of pregnancy is especially dangerous.

Features of hemodynamics

With this pathology, the valve leaflets are deformed and displaced into the lumen of the right ventricle. They are located below the physiological opening between the atrium and the ventricle.

Therefore, the right atrium is enlarged due to the "attachment" of a part of the ventricle, and the latter becomes disproportionately small.

At the time of atrial systole, it contracts top part, and the lower only in the systolic period of the ventricle. At this point, some of the blood from the right ventricle returns to the atrium. Little blood remains in the right ventricle, which reduces its flow to the lungs. And the atrium fills with blood, expands, its muscle layer hypertrophied.

High pressure in the atrial cavity causes a window in the atrial septum to open. A right-to-left discharge is formed. It helps unload the right atrium, but at the same time lowers the oxygen content in arterial blood due to its mixing with venous blood.

Symptoms in a newborn

Asymptomatic defects with Ebstein's anomaly are practically not found. The most severe developmental disorders lead to the death of the fetus during gestation. Most often, children are already weakened in the first months of birth, physical activity (feeding, crying) causes severe shortness of breath and blue skin.

At an older age, they complain of heart pain, heart palpitations... The fingers on the hands look like drumsticks, and the nails look like the bulging glass of a watch. Due to the increase in the right atrium, a protrusion of the chest is formed like a heart hump.

Heart with Ebstein's anomaly

Complications of the disease

With this anomaly, the right atrium is under increased stress, and the ventricle ejects less blood than necessary. One of early complications is circulatory failure of the right ventricular type. It is characterized by:

• difficulty breathing
• an enlarged liver
• increased pulsation of the dilated veins of the neck.

Diagnostics in children and adults

On examination, attention is focused on the cyanotic color of the skin, deformation of the fingers, chest. The boundaries of the heart are displaced to the right, a 3 or 4-beat rhythm is heard, a murmur to the right of the sternum, 2 tone is bifurcated.

If a tricuspid valve defect is suspected, the following examination is performed:

• - the axis is deflected to the right, the right atrium is hypertrophied and dilated, rhythm disturbances in the form of paroxysmal tachycardia, flickering, and blockade of the right branch of the conductors.

• PCG - systolic murmur over the projection of the right ventricle, 1 tone is weakened, 2 is bifurcated, 3 and 4 are high-amplitude.
• Radiography - the right atrium gives the contour of the heart a ball shape, the pulmonary fields are transparent.
• Ultrasound of the heart - the valve flaps are displaced downward, close slowly, the right ventricle is poorly filled, the discharge of blood through the atrial septum to the left. In the fetus, these abnormalities can be detected in about 65 - 70% of cases.
• CT and MRI allow detailing the degree of non-closure of the valve, the presence and intensity of blood shunting, and the size of the heart chambers.
• and probing of heart cavities is used only when it is difficult to make a diagnosis.

Operation as a radical treatment

Conservative therapy is used only for temporary relief of the condition or to prepare for surgery. Assign cardiac glycosides that stimulate metabolic processes in the myocardium.

The only treatment is surgery. It is performed for heart failure and heart rhythm disturbances. In severe cases, a newborn baby can be operated on, but it is best done at the age of 15.

Surgical intervention includes:

• plastic or prosthetics of the tricuspid valve,
• restoration of the integrity of the septum between the atria,
• cauterization of additional pathways,
• (cardioverter if necessary).

Watch the video about Ebstein's anomaly and its correction:

Forecast

Heart disease with Ebstein's anomaly is classified as severe. Without timely treatment, about 35% of patients die by the age of 10, the majority do not live up to 30 years. The causes of death are failure of the right ventricle function and.

If the operation was successful, then the prognosis for life is favorable. Long-term results depend on the severity of myocardial hypertrophy and postoperative rhythm disturbance.

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Children's congenital heart defects, the classification of which includes the division into blue, white and others, are not so rare. The reasons are different, the signs should be known to all future and present parents. What is the diagnosis of valvular and heart defects?

Due to birth defects or after illness, tricuspid regurgitation may occur. The reasons can be in rheumatic endocarditis, pneumonia and other diseases. Detected in a child, incl. newborn, adults. There can be 4 degrees, as well as a combination - pulmonary, valve, pulmonary, prolapse with regurgitation.

Also, the fetus can be diagnosed with hypoplasia of the heart. This severe heart failure syndrome can be either left or right. The prognosis is ambiguous, the newborns will have several operations.

Ebstein's anomaly is a rare heart disease. Let's find out what he is.

This hereditary anomaly is characterized by displacement of the cusps of the atrioventricular right valve into the inner part of the right ventricle. IN the international system classification has the code Q22.5.

According to the microbiology, the cause of the defect is an overdose of lithium, which affects the formation of the fetus during a woman's pregnancy.

Clinical presentation and diagnosis

• Adult patients with Ebstein's anomaly complain of constant fatigue, shortness of breath. Their skin has a bluish tint, which is due to the discharge of blood from the right atrium to the left. In patients with such a defect, abnormal phalanges of the fingers, shaped like drumsticks, are noted, the nails on such fingers have a lens configuration, which indicates oxygen starvation of the body. In most people with such a VPA, a hump of the heart is visually visible, formed by a hypertrophied right atrium. The defect is characterized by the expansion of the boundaries of cardiac dullness to the left and to the right.
• Listening with a stethoscope reveals a weak, dull tonality of heartbeats and a special rhythm of tremors, the so-called galloping, caused by the bifurcation of the first and second tones and the presence of fourth and third.
• For the ECG of such patients, the following signs are characteristic: P waves are high, they indicate hypertrophy of the right atrium and its dilatation; atrioventricular block; arrhythmias.
• X-ray diagnoses cardiomegaly and a spherical shape of the heart, a narrowed bundle of blood vessels and pathology of the right atrium.
• Echocardiography notes a deformed signal emanating from the valves and a hypertrophied right atrium.
• People sent for catheterization have high systolic pressure in the atrium on the right side of the heart, normal or low pressure in pulmonary artery and the right ventricle. A blood test detects oxygen deficiency.
• The most informative method is angiography, which most accurately shows how much the atrium is enlarged.
• All patients with arrhythmia are referred for electrophysiological examination.

Eliminating the problem

The problem is eliminated only by surgery. The operation removes the narrowing or insufficiency of the tricuspid valve.

Criteria for selecting patients for intervention according to echographic examination data:

• severe arrhythmias;
• cyanosis;
• heart failure and circulatory failure, disrupting hemodynamics.

For treatment, two methods of surgical intervention are used: prosthetics and plastic.

The type of surgery is selected depending on the nature of the disease.

Plastic surgeries performed in cardiology clinics eliminate Ebstein's defect and tricuspid valve insufficiency.

Patients with stenosis of the tricuspid valve, in which only part of the right ventricle functions, undergo heart valve replacement.

How is surgery performed?

• Cardiac surgeons open access to the heart through a longitudinal sternotomy, while the patient is connected to a heart-lung machine. The normal size of the atrium is restored through excision of its part; in case of a significant defect, a patch is installed on the atrial area.
• If a patient is diagnosed with severe arrhythmia, epicardial mapping is done.
• Plastic surgery on the tricuspid valve is necessary in order to reduce the size of the left atrium and create a functional working single-leaf valve during surgical operation the fibrous ring is truncated.
• Valve replacement consists of implanting a prosthesis and excising the affected valve.

A timely operation is a ninety percent favorable prognosis for patients. The operated people lead a normal life.

However, carrying children in women is associated with a risk to life. There are a number of prerequisites necessary for the prevention of complications: compliance with all recommendations obtained in cardiology; correct lifestyle and diet; lifelong observation by the attending physician.

Ebstein's anomaly in newborns

In newborns, the defect is difficult to detect, since it clinical picture heterogeneous, the valve can be located in the cavity of the right ventricle, while the cavity of the right atrium is hypertrophied, and the right ventricle is small.

Moreover, the valve is abnormal, the defect of the interatrial septum saves the situation, allowing for some time to compensate for the violation and maintain the hemodynamics of the infant's body.

A child with congenital Ebstein's anomaly, at birth, has a bluish skin color, but this symptom is quickly lost, since the resistance of the lung arteries decreases, compensation occurs with a large opening in the interventricular septum.

If the hole is insignificant, then the lack of compensation becomes the cause of the death of the child from severe heart failure in the first month of life.

With such complications, an operation is performed to expand the opening in the septum with a balloon, this surgical intervention is called the Rashkind procedure.

This life-sustaining surgery relieves the right heart and allows the infant to grow up to the age at which major corrective surgery is possible.

In an extremely serious condition, the intervention is carried out immediately after birth, despite the fact that the heart is still small.

However, for most children, surgery is not indicated, their condition changes, the severity of heart failure and cyanosis decreases. Often, children with a slight displacement of the valve are practically healthy for the first ten years, they can only be worried about the bluish color of the skin.

But despite the absence severe symptoms, small patients should be monitored by a cardiologist and periodically done a cardiogram, with age, arrhythmias and blockages may appear, requiring treatment. In adolescence, children still need surgery, as the condition gradually begins to deteriorate.

As a rule, young people undergo radical open-heart surgery, connected to a heart-lung machine. The hypertrophied atrium is sutured to normal, the valve is lifted and strengthened. If the valve is non-functional, then it is replaced with a prosthesis.

Cardiologists advise against installing a prosthesis during the growth of a child, as a growing heart will lead to stenosis of the valve opening.

All children with Ebstein's defect receive a disability, heavy physical labor and sports are contraindicated for them.

Ebstein's anomaly and accompanying complications

DMPP

An atrial septal defect gradually leads to a deterioration in the child's condition due to progressive oxygen deprivation, the risk of blood clots is a constant threat of stroke. With such a diagnosis, the cardiologist must refer the little patient for surgery.

Arrhythmias

It is in the right atrium that cells are located that send impulses that make the chambers of the heart contract synchronously.

Ebstein's anomaly creates additional pathways for impulse transmission, which causes tachyarrhythmia - a condition that leads to loss of consciousness.

Expansion of the right atrium is complicated by atrial fibrillation.

Ebstein's blemish treatment

In the absence of severe symptoms, the attending physician recommends an examination at least once every six months. The patient must undergo:

• electrocardiography;
• x-ray;
• echography;
• holter monitoring;
• general analysis of blood and urine.

If problems with the heart rhythm are detected, the cardiologist prescribes antiarrhythmic drugs. If heart failure is diagnosed, cardiac glycosides, diuretics, aCE inhibitors.

A serious condition will require surgery. A heart surgeon may recommend valve repair or reconstruction. Severe damage to the valve is the reason for the implant placement.

During surgery, stem cells are injected into the muscle of the right ventricle to restore myocardial functionality.

During the reconstruction, the accompanying anomalies are eliminated, and during the operation with the connection of cardiopulmonary bypass, additional pathways for the electrical signal that cause tachyarrhythmia are eliminated.

Prevention

All preventive actions refer to the period of bearing a child:

If a pregnant woman has a history of congenital heart disease, then she should be under constant medical supervision.

Forecast

People with an abnormal valve location do not live to be sixty years old. The bulk of deaths with Ebstein's anomaly occur at a young age from eighteen to thirty years, this prognosis concerns non-operated patients.

With valvular insufficiency, life is reduced by associated problems:

• endocarditis;
• arrhythmias;
• thromboembolism.

A timely operation extends a person's life if the surgical intervention was successful, without complications.

Ebstein's anomaly and pregnancy

Fit is not recommended for women with Ebstein's defect to carry and give birth to a child. The gestation usually ends with a spontaneous abortion or premature birth. Pregnancy is dangerous for both the mother and the fetus.

Underdevelopment of the right ventricle leads to complications that are exacerbated during pregnancy by attacks of tachycardia, atrial flutter and ventricular fibrillation.

This condition is fatal. Sudden death is generally characteristic of a defect, especially for women carrying a child.

The death of a pregnant woman can cause paradoxical embolism of the cerebral vessels, as well as infectious endocarditis.

Women with a corrected defect are at risk the same as those who have not been operated on; reports of a successful birth are very rare in this case.

For the operated patients, the risk of embolism remains, infective endocarditis and sudden death. When the valve prosthesis leaves, the fetus dies, and the mother requires urgent surgery.

Surviving children are no different from other babies, the percentage of hereditary heart disease development is small.

). Early detection of the disease will help to avoid unpleasant surprises and be treated in time. By knowing the signs of impairment, parents can notice dangerous symptoms their children and make diagnostics so as not to miss the moment of providing timely assistance.

Today we will tell you about the course, treatment and diagnosis of Ebstein's anomaly in adults and children.

Features of the disease

A healthy heart has four chambers and blood flow is directed in one direction. This is ensured by the functioning of the valve system. Any changes are fraught with serious heart failure.

Nature provides that there is a valve between the right atrium and the ventricle. It has a tricuspid structure. It is an intermediary between the structural parts, it is designed so that it passes venous blood into the ventricle compartment from the atrium, blocking the return path.

In the case of Ebstein's anomaly, there is a dangerous congenital pathology in the structure of the heart, a rare form of defect. The three-leaf valve is in the wrong position.

It is located below the intended junction of the atrium and ventricle. Therefore, the atrium lengthens, and the area that abnormally enlarges it, due to the underestimated valve location, is called the atrialized part. The ventricle is reduced. Since the right half of the heart is responsible for receiving venous current and directing it to the lungs, where the blood receives oxygen, the pathology of the right half, associated with incorrect valve dislocation, introduces disturbances in this function.

Blood can flow back into the atrium. Overflow of this part of the heart creates tension in it. A lifebuoy is a defect that often accompanies such pathologies - the possibility of some part of the blood flowing through the septum to the left half of the heart.

The following video will tell you in more detail about the features of the Ebstein anomaly:

Forms and classification

Violation of the tricuspid valve associated with its displacement from the correct location can be of varying degrees of complexity.

• Severe anomaly A significant increase in the right atrium, causing dangerous prerequisites for a number of functional disorders.
• Slight disruption Slight misalignment can cause slight disruptions to the heart. In this case, the work of the right ventricle as a whole has some deviations from the norm, the function is preserved.

Read on to learn more about the causes of the Ebstein anomaly.

Comparative diagram of a healthy heart and a prone Ebstein anomaly

Causes of occurrence

Experts have no clear idea why such a pathology occurs in the fetus. Risk factors include:

• If a woman became infected while carrying a fetus and, as a result, got sick, then there were cases that the child was found to have Ebstein's anomaly. The danger is posed by many infectious diseases.
• A tendency to this disease at the gene level can lead to a violation.
• Unfavorable environmental conditions can cause various mutations.
• It has been noticed that preparations containing lithium can cause this pathology. There have been cases when they were taken during pregnancy and this fact coincided with the detection of an anomaly in the fetus.

Symptoms

If the displacement of the valve relative to the correct location is small, then the pathology may be unnoticed for a long time. In such cases, the most pronounced symptom is bluish lips and skin. When serious deviation valves from the natural position are usually found in the hospital.

Signs of anomaly

• The patient suffers from increased fatigue.
• Cyanosis of the skin - this effect is due to the fact that venous blood is discharged into the arterial blood in the left half through a hole in the wall. If part of the blood is not transferred to the adjacent half, then cyanosis will not be observed in the skin. In difficult cases, this can be dangerous by overloading the right atrium.
• Shortness of breath also occurs due to mixing of blood in the "arterial heart". It turns out that there is a lack of oxygen in the arterial blood.
• The patient may have heart attacks.
• Due to the greatly enlarged right atrium, a bulge may appear to the left of the sternum, which is called the heart hump.
• Thickening at the tips of the toes and hands is common. This symptom usually occurs in patients with cyanotic skin.
• The cervical veins are swollen.
• The physician, while listening to the patient, may suspect a valve failure.
• Enlargement of the liver is possible.
• The lower extremities are swollen.

Diagnostics

Let's see how the Ebstein anomaly is diagnosed.

• The specialist can detect rhythm disturbances by listening and notice signs of Ebstein's anomaly.
• X-ray examination can detect an enlarged atrium.
• An Ebstein anomaly ECG will show a graphical representation of the rhythms where the abnormality can be tracked. There is also a failure of conduction between departments.
• Echocardiographic examination using signal registration is able to determine structural abnormalities in the heart.
• Electrophysiological study - studies the nuances of an abnormal pathway in case of heart rhythm disturbances.
• Cardiac catheterization is performed by inserting a catheter into the right atrium. It makes it possible to do an intracavitary ECG, to examine the blood for oxygen saturation. This procedure is rarely performed to diagnose Ebstein's anomaly. Other methods of examination are enough.
• Angiocardiographic examination - contrast agent helps to see the dimensions of the right atrial cavity and other details.

The following video will show you what the Ebstein anomaly looks like "from the inside":

Treatment

Pathology requires surgery. You can do without surgery if the anomaly has a slight deviation from the norm.

Then therapy is carried out, which mainly involves drug treatment.

In a therapeutic way

In case of violations associated with valve displacement, agents are prescribed that correct the condition:

• when determining heart failure - ACE inhibitors, diuretics, glycosides;
• in violation of the rhythm - anti-rhythm.

Operation

There can be two types of intervention:

• installation of a valve prosthesis,
• reconstruction of an existing valve with plastic surgery.

In the first case, an artificial valve is made from natural materials or from a titanium alloy. A mechanical valve is more durable, but when it is introduced, the patient will have to take blood thinners for life.

In the second case, the excess part of the atrium is sutured, the correct position of the valve is restored. This operation is called valve-sparing, but not in every case it is possible to do it. It depends on the degree of pathological valve deviation.

The anesthesiologist during the operation must take into account possible pressure instability. After the operation, you should continue to monitor the pressure for some time.

Prevention of the disease

Due to the fact that the disease is congenital, then preventive measures apply to the period of pregnancy:

• register on time and follow all the advice of a specialist,
• do not smoke,
• if necessary to use medicines - do it under the strict supervision of a doctor;
• if there are diseases that can destroy tissues, it will be treated before pregnancy;
• avoid contact with harmful chemicals,
• do not take products containing lithium,
• if the expectant mother has a heart defect, the fetus should be carefully monitored.

Complications

The disease is life threatening due to the progression of:

• possible stroke
• heart rhythm disorders
• if an operation is performed and the valve does not create a precedent for serious anomalies, if the recommendations of specialists are followed, complications are not expected.

Forecast

In the case when the location of the valve is very different from the normal location, there are almost no centenarians. There are several known cases when patients reached the age of sixty.

If patients have not undergone surgery, then usually in adolescence, serious ailments associated with valve insufficiency appear. The patient may die if not see a doctor. According to statistics, the highest mortality from this pathology is from about twenty to thirty years.

In addition to valve failure, life expectancy can decrease:

• blood clots in blood vessels (),
• violation of heart rhythms,
• inner heart membranes.

If the patient underwent the necessary treatment and an operation was performed, then the prognosis is optimistic. The main thing is to safely undergo surgery, there are cases of death. After this procedure, a person can lead a normal life, following the advice of a doctor.

Is it worth worrying if a doctor diagnoses a woman with Ebstein's anomaly during pregnancy? Read about it in conclusion.

Special case: fetal Ebstein anomaly

If the diagnosis is made during pregnancy, and the situation is a threat to the life of the fetus, then surgery is possible. The wall of the uterus expands and the surgeon can operate on the child.

If the pathology is not very dangerous, then surgical intervention is postponed until adolescence.

More useful information contains a video clip from a popular TV show, presented below:

- a defect of the tricuspid valve, characterized by its dysplasia and displacement into the cavity of the right ventricle. Signs of Ebstein's anomaly are low physical endurance, shortness of breath, paroxysmal tachycardia, cyanosis, cardiomegaly, right ventricular failure, arrhythmias.

The diagnosis of Ebstein's anomaly is confirmed by the data of the electrocardiogram, echocardiogram, phonocardiogram, radiography, probing of the cardiac cavities, atriography.

Treatment of Ebstein's anomaly is operative, including prosthetics of the tricuspid valve, elimination of the atrialized part of the right ventricle, and elimination of the interatrial communication (ASD, PDA).

Ebstein's anomaly is a congenital pathology of the tricuspid atrioventricular valve, accompanied by an abnormal position of the valves, leading to the formation of an atrialized part of the right ventricle above them, which is one with the right atrium. For the first time in cardiology, the anomaly was described by the German physician W.

Ebstein in 1866. The incidence of Ebstein's anomaly among various congenital heart defects is 0.5-1%.

Ebstein's anomalies are often associated with other heart defects - atrial septal defect, patent ductus arteriosus, ventricular septal defect, pulmonary artery stenosis or atresia, mitral stenosis or insufficiency, WPW syndrome.

Causes of Ebstein's anomaly

The formation of Ebstein's anomaly is associated with the intake of lithium into the fetus at the early stages of embryogenesis.

Also, this and other heart defects can lead to infectious diseases pregnant woman (scarlet fever, measles, rubella), severe somatic diseases (anemia, diabetes mellitus, thyrotoxicosis), the use of alcohol and drugs with teratogenic effects, pathology of gestation (toxicosis, the threat of spontaneous miscarriage, etc.).

An important role in the development of Ebstein's anomaly is played by burdened heredity according to CHD - along with sporadic, there are also family cases of anomaly.

Ebstein's anomaly classification

There are four anatomical variants (types) of Ebstein's anomaly:

• I - the anterior cusp of the tricuspid valve is large and mobile; septal and posterior valves are absent or displaced;
• II - all three atrioventricular valve cusps are present, but they are relatively small and displaced towards the apex of the heart.
• III - the chords of the anterior cusp of the tricuspid valve are shortened and limit its movement; the septal and posterior valves are underdeveloped and displaced.
• IV - the anterior cusp of the tricuspid valve is deformed and displaced towards the outflow tract of the right ventricle; the septal valve is formed by fibrous tissue, the posterior one is underdeveloped or completely absent.

The anatomical basis of Ebstein's anomaly is the incorrect location of the tricuspid valve, in which its cusps (usually the posterior and septal) are deformed and displaced into the cavity of the right ventricle.

In this case, the valve flaps are attached below the annulus fibrosus, sometimes at the level of the right ventricular outlet. Valve displacement is accompanied by atrialization of the right ventricle, i.e.

a condition in which part of the right ventricle is a continuation and a single cavity with the right atrium.

Thus, the displacement of the valves causes the division of the right ventricle into 2 functional parts: the supravalvular atrialized, which forms a common cavity with the right atrium, and the subvalvular, which is smaller in size, functioning as the right ventricle. In this case, the right atrium and the atrialized part of the right ventricle are significantly expanded, and the cavity of the right ventricle is reduced.

The hemodynamic disturbances accompanying Ebstein's anomalies depend on the degree of tricuspid insufficiency, the size of the functioning right ventricle, and the amount of right-to-left shunt through atrial communications.

The electrical processes in the right atrium, which consists of two parts, are not synchronized: the contraction of the right atrium proper occurs in the atrial systole, and the atrialized part of the right ventricle - in the ventricular systole.

Due to tricuspid insufficiency, venous blood regurgitation back into the right atrium occurs; the stroke volume of the right ventricle decreases, which is accompanied by a decrease in pulmonary blood flow.

The right atrium is dilated and hypertrophied, the pressure in it progressively increases, causing a venous-arterial shunt through a defect in the interatrial septum.

Right-left shunt plays a double role: on the one hand, it avoids overloading the right atrium and compensates for the defect; on the other hand, it promotes the development of arterial hypoxemia.

Ebstein's anomaly symptoms

Depending on the severity of hemodynamic disturbances, there are 3 stages of the course of Ebstein's anomaly: I - asymptomatic (rare); II - stage of pronounced hemodynamic disorders (IIa - without cardiac arrhythmias; IIb - with cardiac arrhythmias), III - stage of persistent decompensation.

The most severe forms of Ebstein's anomaly can cause intrauterine fetal death. With a favorable variant of the defect, its course remains asymptomatic for a long time; the physical development of children is age appropriate. In typical cases, Ebstein's anomaly appears in early childhood, sometimes in the first months of a child's life.

Clinical symptoms include diffuse cyanosis, poor exercise tolerance, heart pain, and palpitations.

Paroxysmal supraventricular tachycardia is observed in 25-50% of patients with Ebstein's anomaly, 14% of them have WPW syndrome.

On external examination, attention is drawn to changes in the terminal phalanges of the fingers in the form of "drumsticks" and nails in the form of "watch glasses", "heart hump".

With Ebstein's anomaly, right ventricular failure may develop early - shortness of breath, liver enlargement, swelling and pulsation of the cervical veins. Arterial hypotension is often noted. The course of Ebstein's anomaly is steadily progressing. The cause of death in older patients is most often heart failure and severe rhythm disturbances.

Patients with suspected Ebstein's anomaly are consulted by a cardiologist and cardiac surgeon, ECG, chest X-ray, EchoCG, phonocardiography. Percussion is determined by an increase in the size of the heart to the right, with auscultation, a characteristic three- or four-beat rhythm is heard, systolic and diastolic murmurs to the right of xiphoid process, splitting of the II tone.

ECG data include EOS deviation to the right, signs of hypertrophy and dilatation of the right atrium, paroxysmal ventricular premature beats and atrial tachycardia (WPW syndrome), atrial flutter, atrial fibrillation, complete (incomplete) blockade of the right bundle branch. A phonocardiogram with Ebstein's anomaly is characterized by the presence of systolic murmur in the projection of the right ventricle; delay of I tone; bifurcated II tone; III, IV in tones of large amplitude.

X-ray signs in favor of Ebstein's anomaly are represented by a sharp increase in the right heart, a spherical shape of the shadow of the heart, and increased transparency of the pulmonary fields.

Echocardiography shows a downward displacement of the tricuspid valve cusps, an increase in the size of the right atrium, a delayed closure of the tricuspid valve, a displacement of the cusps, the presence of an atrialized right ventricle, a shunt blood duct from right to left through the ASD (according to Doppler echocardiography). Fetal echocardiography performed in the prenatal period can diagnose Ebstein's anomaly in 60% of cases.

To clarify the shape and severity of Ebstein's anomaly, MRI, probing of the heart cavities, and ventriculography are performed. The diagnosis of Ebstein's anomaly requires differentiation with exudative pericarditis, Abramov-Fiedler myocarditis, isolated ASD and pulmonary stenosis, tetralogy of Fallot.

Ebstein's anomaly treatment

Drug therapy for Ebstein's anomaly is carried out with the aim of treating heart failure and eliminating arrhythmias. Indications for surgical correction Ebstein's anomalies are the presence of complaints, circulatory failure and cardiac arrhythmias. The optimal age for the operation is 15-17 years old, with a severe form of the defect, the intervention is carried out earlier.

Radical corrective surgery for Ebstein's anomaly includes plastic or replacement of the tricuspid valve, ASD repair, and elimination of the atrialized right ventricle.

In some cases, it is advisable to perform the Fontaine operation.

Sometimes at the first stage, to increase pulmonary blood flow and reduce hypoxemia, they resort to the Blalock-Taussig anastomosis, the imposition of a bidirectional cava-pulmonary anastomosis.

Accessory conduction pathways in WPW syndrome undergo radiofrequency ablation. For the treatment of arrhythmias, the implantation of pacemakers or cardioverter-defibrillators is used.

Ebstein's anomaly prediction

The natural course of Ebstein's anomaly depends on the morphological substrate of the defect. In the first year of life, 6.5% of patients die from severe heart failure or ventricular fibrillation; by 10 years - 33%, by 30-40 years - 80-87%.

After surgical correction of Ebstein's anomaly, the prognosis for life becomes favorable. Severe cardiomegaly and the development of postoperative arrhythmia have a negative effect on the long-term results of the intervention.

Source: http://www.krasotaimedicina.ru/diseases/zabolevanija_cardiology/ebstein-anomaly

Ebstein's anomaly (AE) is a very rare cardiac malformation that develops during fetal development.

In pathology, the normal location of the tricuspid valve cusps is disrupted, which results in its failure and circulatory disorders.

According to statistics, Ebstein's anomaly accounts for no more than 1% of all congenital heart anomalies.

In general, congenital malformations of organs are becoming more common. The constantly deteriorating environmental conditions, unfavorable factors affecting the expectant mother, pregnancy pathology. Heart abnormalities make up large group defects that, if compatible with life, very often lead to serious hemodynamic disturbances requiring surgical correction.

When the fetus has ultrasound examination Since a pregnant woman is diagnosed with signs of heart disease, the expectant mother, of course, begins to worry and seek information about the disease in order to be ready to help her baby after birth. Let's try to figure out what the Ebstein anomaly is, and what are the possible ways of correcting this rare defect.

Causes and essence of Ebstein's anomaly

As with most congenital heart defects (CHD), the causes of the pathology remain unclear. Genetic changes in the form of spontaneous mutations and external causes are thought to play a role.

So, in some cases of Ebstein's anomaly, it was found that a pregnant woman was taking lithium preparations or was ill with various kinds of infections, which suggested a possible negative effect of medication and infectious diseases suffered during pregnancy.

By the time of birth, as a rule, the presence of a defect is already known, because all women should timely undergo ultrasound monitoring of the development of the heart in the fetus. If the expectant mother ignored the visits to the doctor, then the presence of pathology in the structure of the heart will be indicated by changes in blood circulation, which are usually noticeable already in the first months of the baby's life.

The human heart consists of two atria and two ventricles, working together and pushing blood in only one direction due to the presence of valves. It is the valve apparatus that provides one-way movement of blood through the cavities of the heart and blood vessels, therefore, with its anomalies, one or another hemodynamic disorder always occurs.

Speaking of Ebstein's anomaly, we mean the pathology of the tricuspid (tricuspid) valve, which is not where it should be, but lower, that is, displaced towards the right ventricle.

The right atrium above the low-located valve is larger than it should be, and the part of the myocardium that is normally part of the right ventricle is called atrialized, which indicates its "atrial" affiliation.

In AE, only that part of the right ventricle that is located under the displaced valve functions. It is clear that it is impossible to accommodate the entire volume of blood expelled there from the atrium. A decrease in the right ventricle inevitably leads to an excess of blood in the atrium.

In addition, through the altered valve, some of the blood returns to the already crowded atrium. These disorders cause distension of the atrium in volume, it cannot cope with the load, and as a result, the blood flow in the lungs suffers, and the vessels of the systemic circulation are involved.

Ebstein's anomaly is rarely presented in isolated form. Nine out of ten patients show other changes as well. So, the most common is the combination of AE with a septal defect between the atria or an open oval window.

It is clear that hemodynamic disorders are further aggravated by this.

The combination of CHD causes a discharge of venous blood from the overflowing right atrium to the left, while arterial blood going to internal organs, mixes with venous, and the result is hypoxia, that is, a lack of oxygen.

Defects in the septum between the atria in combination with AE contribute not only to mixing of blood, but also to local thrombus formation; therefore, such patients always have a high risk of thromboembolism (strokes, necrosis in internal organs).

Often, with Ebstein's anomalies, additional pathways for conducting electrical impulses to myocardial cells are found, which "results" in heart rhythm disturbances - tachyarrhythmias, WPW cider and others.

How does AE manifest?

The time of the onset of AE symptoms depends on the depth of the valve lesion, the severity of its insufficiency, and the combination with other CHD. In children with severe changes in valve structures, signs of defect are diagnosed immediately after birth. Characteristic:

• Cyanosis of the skin;
• Weak sucking reflex;
• The baby gets tired quickly when feeding, slowly gaining weight.

The presence of an open oval window in a newborn baby allows to some extent compensate for the load on the right atrium, because part of the blood goes to the left half of the heart.

If this hole is absent or very small, then the child's condition can quickly become critical, and he may die from severe heart failure within the first weeks of life.

Thus, the combination of AE with a defect in the septum in this case can even play a positive role, providing at least some unloading of the "right heart".

With a moderate or small degree of valve displacement inside the right ventricle for a long time, the only symptom may be cyanosis. Such patients live with him up to 10-15 years, and sometimes the defect is completely diagnosed in adults. Another, no less dangerous manifestation, is arrhythmia, which may also require surgical treatment.

Among the symptoms of AE indicate:

1. Cyanosis of the skin and mucous membranes;
2. Shortness of breath;
3. Fatigue, weakness;
4. Various arrhythmias;
5. When heart failure occurs, edema.

The lack of oxygen in the blood delivered to the organs causes not only an external change in the form of cyanosis, but also a metabolic disorder in tissues caused by hypoxia.

The consequence of this is a change in nails like "watch glasses" and fingers in the form of "drum sticks".

These signs accompany many CHD and indicate an insufficient concentration of oxygen in the blood or about the discharge of venous blood into the arterial bed.

The enlarged right atrium, the volume of which can reach a liter or more, puts pressure on the anterior surface of the chest, which is especially pronounced in a growing child, whose bones are very malleable. This phenomenon leads to the emergence of such an external sign of pathology as a "heart hump" - bulging of the front of the chest in the heart.

Among the complications of AE, fatal arrhythmias, cardiac arrest, and thromboembolism are possible. The cause of death can be a stroke, sudden cardiac death, an increase in congestive heart failure with an uncompensated defect.

How to suspect Ebstein's anomaly?

A suspicion of any congenital defect requires a thorough examination. After analyzing the symptoms and complaints of the patient (or his parents in the case of newborns), the cardiologist prescribes additional diagnostic procedures:

• Chest x-ray to check the size of the heart;
• Ultrasound is a high-precision method for detecting AE and associated defects;
• ECG, Holter monitoring and electrophysiological examination are necessary for cardiac arrhythmias;
• Atriography - examination of the atrium using a contrast agent;
• Catheterization of cardiac cavities to clarify the pressure in them.

Ebstein's anomaly treatment

Medical therapy for AE is necessary in order to correct the heart rhythm, when signs of heart failure appear.

Among antiarrhythmic drugs, beta-blockers (atenolol, metoprolol), calcium antagonists (verapamil, diltiazem) are applicable.

With heart failure, diuretics, ACE inhibitors, cardiac glycosides are indicated. The choice of the drug is determined by the patient's age and the course of the pathology.

AE refers to those developmental defects, the manifestations of which cannot be corrected only by conservative methods, therefore the vast majority of patients need surgical treatment... The age of the operation and its type depend on structural disorders in the heart itself, the severity of the defect and the nature of hemodynamic disorders.

The most common types of operations for AE:

1. Plastic tricuspid valve;
2. Valve replacement.

If the valve cusps and concomitant CHD are such that they can "correct" hemodynamic disorders with plastic surgery, then this method of treatment will be preferred. As a rule, plastic surgery is indicated in case of valve insufficiency, while its narrowing (stenosis) will require a more radical intervention to replace this part of the heart.

During plastic surgery, the excess part of the right atrium is eliminated, a one-leaf valve is created and reduce the diameter of the valve annulus. If there is a defect in the interatrial septum, the surgeon sutures it too. Both during plastic surgery and during prosthetics, "extra" pathways of impulses are crossed, which contribute to arrhythmias.

an example of reconstructive surgery for Ebstein's anomaly

Newborns with severe right atrial overflow and insufficient size of the oval window may require surgery in the first weeks of life.

Its essence consists in the expansion of the oval window or defect in the septum with a special apparatus (balloon) to ensure the movement of "excess" blood into the left half of the heart.

This measure is not radical, but it eliminates the risk to the baby's life, and subsequently, valve plastic or its replacement is still required.

If it is impossible to perform plastic surgery on the valve, the only way to cure the defect is prosthetics.

Its disadvantage is the presence of foreign material in the organ, but, on the other hand, it is a very reliable way to correct the CHD.

It is advisable to conduct it in adolescence, when the volume of the heart is already as close as possible to that of adults, in order to avoid a mismatch between the size of the valve and the area of \u200b\u200bthe heart and, as a result, stenosis.

Prosthetics means removing the structures of a damaged valve and replacing it with an artificial analogue. Modern medicine proposes to supplement such operations with the introduction of stem cells, which provide additional material for the restoration of the missing mass of the myocardium of the right ventricle of the heart.

transplant tricuspid valve

When it comes to the need to implant a prosthesis instead of the affected valve, any parent will want to know what exactly will be installed in his child's heart.

Today, cardiologists can offer either a mechanical valve, completely consisting of synthetic materials and metal, or a biological one, which is made from elements of the human pericardium, or simply transplanted a pig valve that matches the size of a human.

These options have both advantages and disadvantages. Mechanical prostheses require lifelong anticoagulation, but they are durable and reliable. The biological valve does not require anticoagulant therapy, but it also serves somewhat less. The choice of the type of prosthesis remains with the cardiac surgeon, who assesses the real clinical situation.

Ebstein's anomaly prognosis

Ebstein's anomaly often proceeds quite favorably, and timely treatment allows you to completely restore the correct blood flow.

Many patients lead a normal life, and women are able to safely endure pregnancy and give birth to a healthy baby.

The condition for the safety of life with such a congenital heart disease is constant observation by a cardiologist, the implementation of all his recommendations for the treatment and prevention of complications.

At the same time, the prognosis remains serious in severe forms of the defect, when a quarter of babies die in the first month of life. In the absence of treatment, slightly more than half of the patients survive, and timely surgery gives a positive result in 90% of cases. The patient recovers within a year, studies safely or returns to work.

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Source: http://sosudinfo.ru/serdce/anomaliya-ebshtejna/

This article will answer the question: What is Ebstein's anomaly? What changes are taking place in the heart and body. Does it often occur, prognosis for the disease. How such a heart defect manifests itself, is diagnosed and treated.

Ebstein's anomaly is a pathology of the structure of the elements of the heart muscle. It occurs during the period of fetal development, includes a displacement into the right ventricle of the septal and (or) posterior cusp of the tricuspid (tricuspid) valve relative to the annulus fibrosus separating the chambers of the heart. The displacement leads to the formation of an atrialized (included in the atrium) part of the right ventricle.

Heart normal and with Ebstein's anomaly

In this case, the work of both the valve itself (failure) and both right chambers of the heart (an increase in the atrium and a decrease in the volume of the ventricle with thickening of its walls) is disrupted.

The severity of blood flow disorders, and hence the clinical manifestations of pathology, depends on the degree of displacement of the valve leaflets.

With a small displacement and (or) deformation of only one valve, there are no symptoms of defect or appear only under significant loads. Large displacements occur from birth, lead to a slowdown in development and progressive heart failure.

Such patients require constant monitoring, therapy and significant restrictions on exercise. High risk of fatal outcome.

There is no complete cure for the anomaly, even surgical methods cannot eliminate all violations in the structure and pathways of the heart. The disease is characterized by a progressively increasing failure of the heart muscle, leading to a fatal outcome.

The life span determines the degree of violation of the structure of the organ and the severity of the pathology of blood circulation. Patients with minor defects and minor blood flow disturbances live long and fulfilling lives, but require constant specialist supervision.

People with such a defect are observed by a cardiologist, at first a child, and after 18 years - an adult. The question of the possibility and necessity of surgical correction, as well as its direct implementation - is the field of cardiac surgery specialists.

Anomaly in numbers, characteristics of pathology

In 90% of cases, tricuspid valve anomaly is combined with:

• a defect in the wall between the atria - a congenital disorder of the structure of the heart;
• an open oval window - the opening between the atria, which normally functions in the fetus, spontaneously closes within 1–2 years of the child's life.

In 20–25% of patients, there may be a narrowing of the pulmonary artery or its complete obstruction (atresia). This condition significantly worsens the prognosis of the disease, and atresia is fatal within the first month of life in half of the patients.

Ebstein's anomaly is also characterized by a combination with heart rhythm and conduction disturbances:

• 25-50% of patients suffer from irregular supraventricular tachycardia (occurs with attacks or paroxysms), of which 5-10% are diagnosed with WPW syndrome (one of the disturbances in the conduction of an excitation wave from the atria to the ventricles);
• Almost half have complete or partial blockages of the His bundle (the pathways of the heart muscle).

Violation of the conduction of excitation in the heart muscle is the main cause of sudden death in patients with this defect.

Ebstein's anomaly leads to several disorders of blood flow in the heart:

1. With atrial contraction, the part of the right ventricle below the displaced tricuspid valve leaflets cannot accept the entire volume of incoming blood and is stretched.
2. With the subsequent contraction of the ventricle, including its atrialized area, part of the blood is thrown into the atrium through the open valve leaflets, stretching the atrium and increasing the pressure in the inferior and superior vena cava ( big circle circulation).
3. The mismatch between the amount of blood and the size of the cavity leads to an increase in muscle mass (hypertrophy) of the right ventricle in order to maintain a normal ejection volume.
4. When the reserve of thickening of the ventricular wall is exhausted, the amount of blood entering the vessels of the lungs for oxygen enrichment decreases - the beginning of the development of insufficient function of the heart muscle.
5. The presence of a message between the atria, on the one hand, compensates for the hyperextension of the right parts of the heart muscle (blood discharge into the left half), and on the other hand, leads to a lack of oxygen in the tissues (mixed blood flows through the arteries) in the early stages and failure of the left ventricle in the later stages.

Causes

Ebstein's anomaly, like most disorders of the structure of the heart, in 92% of cases occurs under the influence of harmful environmental factors during the period of laying and development of cardio-vascular system (4-11 weeks of pregnancy).

These factors include:

• physical: radiation;
• chemical: nicotine, alcohol, drugs (data on the effect on fetal formation are indicated in the instructions for the drug).

Drinking alcohol and smoking cigarettes during pregnancy causes irreparable harm not only to the mother's body, but also to the unborn child. Including the Ebstein anomaly may develop.

The remaining 8% of malformations of the heart muscle are associated with spontaneous changes in the structure of chromosomes in the process of dividing the cells of the embryo - it is impossible to predict or influence this process.

There are also family types of anomalies that are combined with skeletal malformations and are inherited. In this case, to determine the risk of having a child with pathology, it is necessary to consult a geneticist before pregnancy.

Symptoms of pathology

Depends on the degree of displacement of the elements of the tricuspid valve and related disorders in the blood flow through the heart and vessels.

With moderate changes, the manifestations of the disease may be completely absent for a long time. In case of significant anatomical changes, accompanied by stretching of the right atrium, a decrease in the volume of blood ejection by the right ventricle and discharge of venous blood through the defect into the left atrium,

clinical manifestations of the disease appear. The degree of loss of quality of life determines the stage of heart failure.

Symptoms of the defect can be isolated, but their combination of varying severity is more common:

• central cyanosis - a change in the color of the face and neck from slightly bluish to black-violet (depending on the volume of venous blood discharge into the arterial system);
• failure of the function of the heart muscle is manifested by shortness of breath (especially during exertion), lagging behind in growth and development;
• violation of the rhythm of contractions of the heart muscle - atrial types of increased rhythm (tachycardia) or a decrease due to the block of conduction of the excitation wave from the atria to the ventricles (bradycardia);
• disturbances of consciousness (fainting and pre-fainting) during physical exertion against the background of impaired blood flow in the brain (extreme degrees of insufficiency of heart function, disturbances in the rhythm of its contractions);
• heart murmur - a violation of the movement of blood through the heart chambers, determined by listening (auscultation) of his work by a doctor.

The manifestations of the disease vary significantly at different ages:

Left heart of a man who lived 67 years with Ebstein's anomaly

Diagnostics

At the first visit or a planned visit to the doctor, he may suspect the presence of heart pathology for a number of data and signs:

In order to clarify the diagnosis, the following methods are used:

Method Features of changes in Ebstein's anomaly

Auscultation (listening) of the heart	Additional heart tone (gallop rhythm) Systolic and / or diastolic heart murmur
Electrocardiography	Signs of enlargement of the right ventricle and (or) atrium Partial or complete blockade of the bundle of His; Violations of the rhythm of the heart
X-ray of the lungs and heart muscle	Right heart enlargement or atrial isolation Signs of decreased blood flow to the lungs
Echocardiography (ultrasound of the heart) to assess blood flow	Displacement of the tricuspid valve leaflets into the cavity of the right ventricle Insufficient valve function Blood flow into the atrium during ventricular contraction (regurgitation) Defect in the wall between the atria Enlargement of the right ventricle and (or) atrium
Electrophysiological examination of the heart (assessment of the sources and pathways of the excitation wave) - carried out when violations of the rhythm of the heart muscle are detected	Violation of impulse conduction (blockade) along the main pathways The presence of additional pathways (often multiple) Foci of the formation of additional excitation impulses

Echocardiogram of a patient with severe Ebstein's anomaly showing a severely displaced septate (arrow). RV - right atrium, RV - atrial right ventricle, RV - right ventricle, LA - left atrium, LV - left ventricle

The diagnosis of "Ebstein's anomaly" is established only on the basis of instrumental additional examination. Disease manifestations and patient examination data are not specific to the disease.

Treatment methods

There is no complete cure for pathology. With a slight displacement of the valve leaflets, there are no clinical manifestations, patients lead full life, being under the constant supervision of a cardiologist. In some patients without symptoms of the disease, they may appear in the future.

Treatment of a defect with characteristic manifestations can be conservative and (or) surgical in nature, while the goal of therapy is to maintain the quality and prolong the patient's life. Both depend on the degree of blood flow disturbance: in the case of severe changes, the effect of treatment is unsatisfactory.

Conservative treatment

Surgery

The need for surgical correction is determined by:

1. The level of displacement of the valves relative to the annulus fibrosus.
2. The size of the defect between the atria.
3. The degree of narrowing of the right ventricle and / or pulmonary artery.

Type of disorder Surgical treatment method

Severe forms of disturbance in the rhythm of heart contractions or lack of effect from drugs	Radiofrequency ablation ("burning out" of additional foci of excitation or cardiac conduction pathways)
Lack of communication between the atria or its small size in case of significant disturbances in blood flow in the newborn	Expansion of the natural window in the septum or creation of an artificial one for unloading the right atrium
Severe defect with a small right ventricular volume	Complete closure of the communication between the atrium and the ventricle and the creation of a bypass communication between the vena cava and pulmonary arteries
Decompensation of right ventricular function in patients under 3 years of age	Imposition of a shunt (message) between the inferior vena cava and the pulmonary artery
Moderate valve insufficiency with pronounced narrowing of the outlet from the right ventricle	Creation of a window between the atria and a shunt between the vena cava and pulmonary arteries
Severe valve failure	Tricuspid valve repair or complete replacement

Surgical treatment for Ebstein's anomaly

Forecast

This anomaly can have a very varied prognosis for the quality and duration of life.

It is impossible to recover from the defect, but with minor or moderate changes, patients live without restrictions and constant treatment. Severe forms require constant treatment and lead to a progressive deterioration in health and quality of life.

The first year of life is experienced by almost 70% of patients, the ten-year threshold - about 60%. More than 90% of those who need tricuspid valve replacement or plastic surgery survive to 10–18 years of age.

If necessary surgical care top scores treatment in a group under 15 years old, where about 80% of patients live for a long time.

The prognosis is much worse in patients with disturbances in the rhythm of heart contractions, such as paroxysmal tachycardia - among them the highest percentage of sudden death.