Ebstein syndrome

Introduction to Ebstein Syndrome Ebstein syndrome, also known as Ebstein malformation, refers to the tricuspid valve and/or posterior flap occasionally attached to the right ventricular wall of the proximal apex with the anterior flap, accounting for 0.5% to 1.0% of congenital heart disease. This disease is also known as the tricuspid valvular deformity. basic knowledge The proportion of illness: 0.0005%-0.0008% Susceptible people: good for infants and young children Mode of infection: non-infectious Complications: arrhythmia, cerebral embolism, brain abscess

Ebstein syndrome etiology

(1) Causes of the disease

The cause of the disease is unclear, and occasionally family history reports that the mother of the mother who is taking lithium in the early pregnancy is prone to the disease.

(two) pathogenesis

The main pathological anatomical features of this malformation are tricuspid valvular deformity, right ventricular atrialization and functional right ventricular stenosis.

The position of the right atrioventricular ring is normal (often enlarged), and the anterior lobes of the tricuspid valve are normally attached to the annulus fibrosus, while the attachment points of the temporal and posterior lobes are significantly moved down, located in the right ventricular wall endocardium. The degree of upper and lower movement and its attachment method vary from person to person. Even if the attachment point of the valvular valve is adjacent to the annulus fibrosus, because the leaflets are too long, they may often adhere to the right ventricular wall at different distal ends of the annulus fibrosus. These leaflets can also be attached to the ventricular septum and right ventricular apex by means of a deformed chordae tendine. The posterior tricuspid valve is often underdeveloped or completely absent. In all of the above cases, tricuspid regurgitation may occur, a few In the patient, the tricuspid valve merges into a aponeurosis in the ventricular cavity with a hole in the middle or lateral margin. The right atrial blood flow must be injected into the ventricle through this pore, thus hindering the emptying of the atria.

As the tricuspid valve moves down, the right atrium captures part of the right ventricle. The ventricular wall of this captured area becomes thinner and the room is enlarged. The right atrium cavity is obviously enlarged. The right ventricle of the room is functionally belonged to the right atrium, but The electrical activity retains the characteristics of the right ventricle muscle. The larger the right ventricle is, the smaller the functional right ventricular cavity is. The right ventricle cannot be inserted into the right ventricle. Instead, it is like a ventricular wall tumor. When the ventricle contracts, it expands paradoxically, thus interfering with right ventricular ejection.

Ebstein syndrome often has heart chamber traffic (as seen in 80% of cases). This heart chamber traffic can be an open orbital defect, or atrial septal defect. In addition, a few cases can be combined with other congenital malformations. Such as aortic coarctation, ventricular septal defect, pulmonary stenosis or atresia, patent ductus arteriosus or corrective large blood vessel transposition, in the latter case, the anatomical right ventricle, functionally the left ventricle of the systemic circulation Clinically, there may be mitral regurgitation, which is called the left Ebstein deformity.

The pathophysiological changes of this deformity depend on the presence or absence of pulmonary stenosis, the size of the functional right ventricle and the degree of tricuspid regurgitation. If there is a pulmonary stenosis, the functional right ventricular cavity is significantly reduced, and the tricuspid valve Severe reflux, then the right ventricle contraction when the blood volume is bound to decrease, the clinical manifestations of early onset, severe symptoms, poor prognosis, and vice versa, hemodynamic changes are light, clinically manifested as late onset, mild symptoms, prognosis Preferably.

As mentioned above, this type of malformation often has heart chamber traffic. If the tricuspid valve is very light and there is atrial septal defect, then left to right shunt can occur at the atrial level; or because the tricuspid lesion is light, the egg The round hole is closed, and there will be no shunt at this time. In the third case, the tricuspid valve is severely deformed, and the right atrial pressure is increased, so that the right to left shunt of the atrial level occurs. In the first two cases, there is often no cyanosis in the clinic; In three cases, there is a cyanosis. A small number of patients, even if there is no obvious right-to-left shunt, but due to low cardiac output, increased arteriovenous oxygen difference, clinically may have mild cyanosis, in addition, in the functional right ventricle, Systolic blood pressure can be normal, and diastolic blood pressure is often increased, similar to constrictive pericarditis, atrial systolic pressure and diastolic blood pressure are increased, there may be systolic pressure difference on both sides of the pulmonary valve, diastolic pressure difference on both sides of the tricuspid valve The former may be due to a long tricuspid leaflet that partially blocks the right ventricular outflow tract; the latter has a tricuspid valve stenosis due to a tricuspid valve malformation.

Ebstein Syndrome Prevention

1. Primary prevention of congenital heart disease is caused by environmental factors, genetic factors and the interaction between the two. The prevention of genetic factors mainly focuses on premarital examination, avoiding close relatives' marriage, accepting genetic counseling, and more importantly, trying to It is found that avoiding and preventing environmental factors such as viral infections, drugs, alcohol and maternal diseases that may cause adverse changes in genetic predisposition during pregnancy to break the interaction between environmental factors and genetic factors is the key to primary prevention.

2. Secondary prevention

(1) Early diagnosis: Early diagnosis of congenital heart disease can be divided into two steps:

1 fetal diagnosis: metabolites in amniotic fluid, special protein and enzyme activity, etc., can also be used for vaginal villus extraction in women 8 to 12 weeks of pregnancy for congenital heart disease caused by single gene mutations and chromosomal aberrations Great value.

2 Infancy diagnosis: A comprehensive physical examination should be performed on the babies born, especially the cardiovascular system should be carefully auscultated and found to be further examined by cardiac ultrasound.

(2) Early treatment: Once the fetal diagnosis of congenital cardiovascular malformation is confirmed in the fetal period, the pregnancy should be terminated in time. For some hereditary enzymes or metabolic deficiency diseases, relevant replacement therapy should be carried out early after birth, and the conditional hospital Gene therapy can be performed to prevent the occurrence of the corresponding disease.

3. Third-level prevention of congenital heart disease Once the diagnosis is made, the fundamental method of treatment is to perform surgery to completely correct the cardiac vascular malformation, thereby eliminating the pathophysiological changes caused by the deformity. If there is no surgery or temporary surgery, it should be based on Avoid excessive work, so as not to cause heart failure, if heart failure occurs, anti-heart failure treatment, prevention and treatment of complications, patients with congenital heart disease in the implementation of invasive examination or treatment, including cardiac catheterization, extraction, tonsillectomy, etc. Antibiotics should be routinely applied to prevent infective endocarditis.

Ebstein syndrome complications Complications, arrhythmia, cerebral embolism, brain abscess

Complications such as heart failure, arrhythmia, cerebral embolism and brain abscess can be combined.

Ebstein Syndrome Symptoms Common symptoms Palpation without pulmonary artery occlusion arrhythmia heart failure systolic murmur intracardiac shunt for right-to-left angiography see double-ball sign

The incidence of Ebstein syndrome can be early or late, the symptoms can be light and heavy, and the signs can be varied. Those with severe malformations can have obvious cyanosis and congestive heart failure after birth; those with mild deformities do not necessarily appear in adulthood. Obvious symptoms, the most prominent symptoms of this malformation are cyanosis and congestive heart failure. The main signs of Ebstein syndrome include: bulging and quiet precordial area (no obvious pre-cardiac pulsation, palpation without pulmonary artery closure) Sense); the first heart sound and the second heart sound are clearly split, there may be an enhanced third heart sound, and a fourth heart sound may also appear; the second component of the split first heart sound is often in the form of a click sound, which is called "sail sign" "(sail sign); mild systolic murmur and short diastolic mid-term murmur in the tricuspid valve area, in addition to cyanosis, clubbing (toe), jugular systolic positive pulsation, Siber believes that the deformity The most characteristic signs are the two groups:

1 hairpin with a quiet heart area;

2 The first heart sound, the split second heart sound, the enhanced third heart sound or the fourth heart sound composed of a quartet.

Examination of Ebstein syndrome

The diagnosis of Ebstein syndrome, clinical symptoms and signs may give important tips, but to make an accurate diagnosis depends on the following auxiliary examinations, especially selective angiography.

1. The amplitude of the P wave of the electrocardiogram is increased and/or widened, and the notch is sometimes visible. The leads of II, III, aVF and V1 are most clear. Some people think that the degree of P wave change is related to the prognosis, and those with normal P wave are often asymptomatic. Significant abnormalities, not only often symptoms and rapid death in a short period of time, the PR interval is often prolonged, complete or incomplete right bundle branch block is almost seen in every patient, limb lead and right chest lead Often low voltage, occasional right ventricular hypertrophy, but no left ventricular hypertrophy.

It has recently been pointed out that the QRS complex of the V1~4 lead is Qr-type with T-wave inversion, which is a specific electrocardiogram change of this malformation.

About 5% to 25% of patients with this malformation have pre-excitation syndrome (type B), and congenital heart disease with pre-excitation syndrome, 30% of which are Ebstein malformations. Therefore, clinically, when congenital heart disease is combined Pre-excitation syndrome, suspected and Ebstein malformation, this malformation can occur a variety of arrhythmias, paroxysmal supraventricular tachycardia is common, even without pre-excitation syndrome, other arrhythmias such as housing Pre-sexual contraction, atrial flutter or atrial fibrillation can be seen.

2. X-ray examination of mild deformity, heart enlargement is not obvious, pulmonary blood is normal, moderate, severe deformity, the heart expands to both sides, mainly for the right atrium enlargement, the heart beat is not obvious under fluoroscopy, and the enlarged heart is not Symptoms, similar to pericardial effusion or pulmonary stenosis with heart failure X-ray signs, due to enlargement of the right atrium, plus the right ventricular outflow tract to the left, the heart shadow can be square box or funnel shape, a few lesions can be presented Spherical, pulmonary blood is reduced, and the aortic node is normal or small.

3. The most typical manifestation of echocardiography is an increase in the amplitude of the anterior tricuspid lobes, and a closure delay (at least 0.04 s after the mitral valve is closed). In addition, if the probe is placed in the general right ventricle The location of the large heart chamber (the right ventricle of the room) can be seen, and the EF slope of the tricuspid valve (the early closing movement of diastole) is also slowed down.

4. Right heart catheterization has been considered to be extremely dangerous for cardiac catheterization in Ebstein syndrome. It is prone to severe arrhythmia and even life-threatening. Therefore, if you do not consider cardiac surgery, it is best not to do this. If the clinical diagnosis is unknown, it should be carried out despite the danger. Under the condition of experienced personnel and rescue equipment, the risk is not great. A group of 505 patients with international malformation study, 363 patients underwent catheterization and angiography. There were 100 cases of arrhythmia, including 13 deaths.

In the right heart catheterization, the catheter is often coiled in the enlarged right atrium. The catheter is manipulated and the catheter tip can often be delivered to the left atrium (via the heart chamber) but difficult to access the right ventricle.

The right atrium pressure is higher, the right atrial pressure curve shows a wave, v wave increases, right ventricular diastolic pressure is high, systolic blood pressure is normal or slightly higher, pulmonary artery pressure is normal or low, when from the pulmonary artery to the right ventricle, or from the right When the ventricle was transferred to the right atrium and the pressure curve was continuously recorded, it was found that there was a systolic pressure difference on both sides of the pulmonary valve, and there was a diastolic pressure difference on both sides of the tricuspid valve.

In most patients, there is a right-to-left shunt at the atrial level, and even a horizontal to left shunt can be found at this level.

It should be specifically mentioned here that if the pressure curve and the intracardiac electrocardiogram can be recorded at the same time, it is often found that there is a transition zone between the right atrium and the functional right ventricle (Fig. 1), and the pressure recorded in the zone is the same as the right atrium. The intracavitary electrocardiogram pattern is the same as the right ventricle. This transitional zone is the right ventricle of the room. This finding often contributes to the diagnosis of Ebstein syndrome.

5. Selective right heart system angiography The main basis for the diagnosis of malformation is: tricuspid malformation, downshift and right ventricular atrialization. Generally, two incisions are visible on the lower edge of the developed right atrium, one of which is in the midline of the spine. Nearby, is the intrinsic tricuspid annulus; the second is located on the left side of the spine, reflecting the tricuspid valve of the downward movement. The between the two incisions is the right ventricle of the room. In addition, selective right atrial angiography is still available. It can be seen that the right atrium is significantly dilated, the contrast agent is slow; the left atrium, the left ventricle, the early development of the aorta (in the case of heart-to-room traffic), selective right ventricular angiography, tricuspid regurgitation, right ventricular outflow stenosis or expansion.

Diagnosis and identification of Ebstein syndrome

The following points have a reference value when diagnosing this disease:

1. The symptoms of bruising in the neonatal period are obvious, and later alleviate or disappear completely. After the elderly, cyanosis reappears.

2. Cyanosis symptoms combined with tachyarrhythmia should first consider the disease.

3. Right-to-left shunt congenital heart disease, less pulmonary blood and no right ventricular hypertrophy.

4. The heart is enlarged, but the pulsation in the anterior region is very weak. There is a "multi-temporal" heart sound during auscultation.

5. Pulmonary blood is less and the heart is enlarged. The aorta and pulmonary artery are small, and the heart is like a balloon.

6.P-port high, but no right ventricular hypertrophy.

7. The right heart lead shows a complete right bundle branch block and a small multi-phase wide QRS wave.

8. There are blue-purple with B-type pre-excitation syndrome, and the pulmonary blood is less.

9. There are QR wave and T wave inversion on the V1~4 lead.

10. Echocardiography shows the tricuspid attachment point moving down.

Ebstein syndrome can be classified into 3 types based on clinical manifestations and hemodynamic changes during diagnosis:

1 light type: no or mild cyanosis, cardiac function I ~ II, heart light ~ moderate increase, intracardiac shunt mainly left to right, no pressure difference between right atrium and functional right ventricle, cardiovascular angiography No double ball sign, no surgery or just close the heart defect, the prognosis is good,

2 stenosis type: cyanosis is obvious, heart function is above grade II, heart is mild to moderately enlarged, pulmonary circulation blood flow is reduced, there is pressure difference between enlarged right atrium and functional right ventricle, and intracardiac shunt is right to left, heart Angiography sees the double-ball sign and requires surgery.

3 insufficiency type: no or mild cyanosis, heart function level II or above, heart severity increased, no pressure difference between right atrium and functional right ventricle, intracardiac shunt can be left to right or right to left, angiography visible The right atrium is extremely large, with a double ball sign and requires surgery.

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