Tetrad famo

Tetrad famo

Famo tetrad (TF) – CHD, anatomically represented by 4 signs: ventricular septal defect (VSD) associated with obstruction of blood flow from the right ventricle (right ventricular outflow stenosis at various levels), hypertrophy of the myocardium, right ventricle and aortic dextraposition. Frequency – 10-15% of all CHD and 50-75% of blue-type defects. Etiology. Violation of the formation of the heart on the 2-8th week of gestation under the influence of a viral infection, industrial hazards, some drugs, hereditary factors. Genetic aspects. Cornelia de Lange syndrome (“122470, 3q26.3, I). Multiple hereditary anomalies, clown face, small feet and hands, polyphalangy, vertebral anomalies, mental retardation, low birth weight, TF. Hemodynamics

• • With significant stenosis and large volumes of defect in systole, blood from the ventricles enters the aorta and, to a lesser extent, the pulmonary artery. The location of the aorta astride the interventricular septum leads to unhindered ejection of blood into it from the right ventricle, due to which right ventricular heart failure does not develop with this defect.
  • In moderate stenosis, when the resistance to ejection of blood into the lungs is lower than into the aorta, there is a left-to-right shunt, which is clinically manifested by a pale (acyanotic) form of TF. As the severity of stenosis increases, a cross-shock occurs, and then a shunt from right to left (venous-arterial; transition to the cyanotic form of the defect).

Clinical picture

• • Cyanosis (depending on the degree of pulmonary stenosis).
  • Shortness of breath – deep irregular breathing.
  • Shortness of breath and cyanotic attacks determine the severity of the condition and the development of complications from the central nervous system. They appear in the period from 6 to 24 months of life. The attack begins suddenly, the child becomes restless, shortness of breath, cyanosis increase, then apnea, loss of consciousness, convulsions are possible. The onset of attacks is associated with spasm of the right ventricular outflow tract, as a result of which all venous blood enters the aorta through the VSD and causes or enhances hypoxia.
  • Delayed psychomotor development in infants during the first years of life. At an older age and in adults, a lag in physical development is not often noted.
  • Babies may have drumstick fingers and watch glass symptoms depending on the degree of hypoxemia.
  • After exercise, a squatting position is characteristic (providing an increase in total peripheral vascular resistance and a decrease in blood shunt from right to left).
  • Systolic trembling along the left side of the sternum.
  • Auscultation
  • Loud I tone
  • Rough systolic ejection murmur with a maximum in the II-III intercostal space to the left of the sternum
  • Over the pulmonary artery II tone is weakened
  • With pronounced collateral circulation on the back above the lung fields, a systolic or systolic-diastolic murmur is heard.

Laboratory research. Blood analysis: signs of blood clotting – high erythrocytosis, an increase in the content of Hb, ESR is sharply reduced (up to 0-2 mm / h).

Special Studies

• • ECG – deviation of EOS to the right, hypertrophy of the myocardium of the right ventricle, in rare cases, incomplete blockade of the right leg of the Huis bundle. Sinus rhythm, sometimes atrial fibrillation or flutter may develop
  • X-ray examination of the chest organs
  • The pulmonary pattern is depleted; in older children and adults, it can be enhanced due to the developed collateral circulation. Toddlers are characterized by a small heart in the shape of a shoe
  • Enlargement of the right ventricle
  • The left ventricle may be enlarged when combined with a patent ductus arteriosus
  • echocardiography, doppler echocardiography, color dopplerography
  • Cardiac catheterization can detect high pressure in the right ventricle, the pressure gradient between the pulmonary artery and the right ventricle. The probe traditionally easily passes into the aorta, where a decrease in blood oxygenation is noted.
  • Angiocardiography to assess the condition of the coronary and pulmonary arteries, VSD and to clarify the nature (type) of right ventricular outflow obstruction.

Differential Diagnosis

• • Transposition of the great vessels
  • single ventricle
  • Ebstein anomaly.

Treatment: Conservative therapy

• • Relief of dyspnea-cyanotic attacks
  • Humidified oxygen
  • 1% solution promedolave ​​/ mO, 05 ml / year of life
  • Cordiamin – 0.1 ml / year of life.
  • In the absence of the effect of the therapy, an intravenous jet or drip fluid is administered:
  • 4-5% solution of sodium bicarbonate (under the control of KShchR)
  • 5% glucose solution, Ringer’s solution, reopoliglyukin, aminofillin, insulin, vitamins are added to the dropper.
  • If there is no effect, an emergency operation of aortopulmonary anastomosis is indicated.
  • Newborns with a combination of TF with atresia of the pulmonary valve, when the pulmonary blood flow depends on the state of the arterial duct, to maintain blood flow in it until the aortopulmonary anastomosis is applied, infusion of the prostaglandin E product (alprostadil) 0.05-0.1 mg / kg / min. When infusing the product, it may be necessary to ventilate due to respiratory arrest.

Surgical treatment is indicated for all patients with TF.

• • Palliative surgical treatment. The method of choice should be considered a radical correction of the defect
  • Blalock-Taussig bypass or its modifications (subclavian-pulmonary anastomosis)
  • Potts-Smith operation (anastomosis between the descending aorta and the left pulmonary artery)
  • Waterstone-Cooley bypass (intrapericardial anastomosis between the ascending aorta and the right pulmonary artery).
  • Radical surgical treatment is the closure of the VSD and the restoration of the patency of the outflow tract from the right ventricle.
  • Postoperative complications
  • Hypofunction and thrombosis of the anastomosis
  • Residual VSD
  • Pulmonary hypertension
  • Pulmonary artery rupture on the side of the anastomosis
  • Aneurysm of the right ventricle
  • Ventricular arrhythmias
  • Conduction disturbance and complete transverse heart block
  • Infective endocarditis.

Complications

• • TELA
  • brain abscess
  • Infective endocarditis
  • Delayed puberty
  • neurological disorders.

The course and prognosis are determined by the degree of pulmonary stenosis

• • 25% of babies die within the first year of life, most during the neonatal period
  • The average life expectancy of non-operated patients is 12 years, in rare cases, patients live up to 75 years.
  • Shortness of breath cyanotic attacks disappear after 3 years
  • Postoperative mortality with radical correction is 5-16%.

Synonym. Fallot tetralogy See also Ventricular septal defect Abbreviations

• • TF – Fallot’s tetrad
  • VSD is a ventricular septal defect. Q21.3 Tetralogy of Fallot

Notes. The pentad of Fallot is a combination of an atrial septal defect with components of the tetrad of Fallot. From the point of view of pathogenesis, the tetrad and pentad of Fallot are hardly distinguishable. Literature. 336:206-207

thymomas

Thymoma is a tumor that develops from the cellular elements of the thymus. Frequency. Among the tumors of the anterior superior mediastinum affecting adults, thymomas are found most often. Thymomas can occur at any age and are especially common in the fifth and sixth decade of life, affecting men and women equally. About 40-50% of patients with thymomas have concomitant severe pseudoparalytic myasthenia gravis.

pathological anatomy

• • Tumors of the thymus by cellular nature can be lymphoid, epithelial, spindle cell

or mixed

• • Two-thirds of thymomas are regarded as benign, of which 10% are simple cysts.
  • In epithelial thymomas, the prognosis is poor; in spindle cell thymomas, the prognosis is much better.
  • The easiest way to distinguish a benign tumor from a malignant one is by its tendency to damage adjacent tissues.
  • Benign tumors are encapsulated
  • Malignant tumors are invasive, they grow into nearby organs or pleural cavities. Distant metastasis is relatively infrequent.

Diagnosis

• • Most patients with thymomas are asymptomatic, and the tumor is found incidentally on a chest X-ray. The appearance of symptoms is due to the invasion of a malignant tumor. Chest pain, cough, dysphagia, weakness, shortness of breath, or superior vena cava syndrome occur
  • Helps diagnose:
  • abnormalities detected on x-ray, CT or MRI of the chest
  • concomitant severe pseudoparalytic myasthenia gravis. Under such circumstances, the mediastinum will need to be examined for the presence of a thymic tumor. Lateral chest x-rays are of the greatest help, since in direct projection small tumors can be hidden in the shadow of large vessels. CT and MRI are helpful in determining the extent of thymoma invasion.

Surgery. Most thymus tumors are removed through a median sternotomy incision (possible thoracotomy)

• • Thymomas not accompanied by severe myasthenia gravis. Mediastinal examination and tumor removal required
  • Benign tumors are removed
  • Malignant tumors
  • If possible, all areas of tumor spread should be removed.
  • When an invading thymus tumor is unlikely to be completely removed, postoperative radiation therapy is resorted to. Chemotherapy and immunotherapy do not give a clinical effect
  • Thymomas associated with myasthenia gravis should be removed in their entirety along with the rest of the thymus.

See also Tumor, radiotherapy; Tumor, markers; Tumor,

treatments

ICD. C37 Malignant neoplasm of thymus