Aplasia, absence of the pectoralis major muscle on the left. Costomuscular defect (Poland syndrome). Poland syndrome: causes and treatment options

4095 0

Poland syndrome

Accordingly, in French and German literature, however, it is named after the English medical student Alfred Poland, who in 1841 published a partial description of this deformation that he encountered at the section. A complete description of deformation with all its components appeared in the literature only in 1895.

Each patient has different components of Poland syndrome, which occurs sporadically, with a frequency of 1 in 30,000 - 1 in 32,000 newborns and is rarely familial. Damage to the hands varies in extent and severity. It is assumed that abnormal migration of embryonic tissues forming the pectoral muscles, hypoplasia of the subclavian artery, or intrauterine damage play a role in the etiology of Poland syndrome. Not a single theory has yet found reliable confirmation, however.

Deformation of the chest wall in Poland syndrome varies from mild hypoplasia of the ribs and costal cartilages on the affected side to aplasia of the anterior part of the ribs and all costal cartilages (Fig. 15-8). Thus, according to one study, among 75 patients with Poland syndrome, 41 had no deformation of the chest wall, 10 had hypoplasia of the ribs without local areas of depression, 16 had deformation of the ribs with retraction, and in 11 of them the retraction was significant. And finally, rib aplasia was detected in 8 cases.35 It is important to note that no correlation was found between the degree of deformation of the hand and chest.

Rice. 15-8. Abnormalities of the chest in Poland syndrome. A, Most often, the rib cage is completely normal, only the pectoral muscles are absent.
B, Retraction of the affected side of the chest wall with rotation and (often) retraction of the sternum. Often there is a keeled deformity on the opposite side.
C, Hypoplasia of ribs on the affected side, but without significant depression. This option usually does not require surgical correction.
D, Aplasia of one or more ribs is usually associated with retraction of adjacent ribs on the affected side and rotation of the sternum.

Rice. 15-9. A, A transverse incision is made below the nipple and between them, in girls - at the site of the fold that subsequently forms under the mammary glands.
B, Schematic representation of the deformity with sternal rotation, cartilage retraction on the affected side, and keeling on the opposite side.
C, In rib aplasia, the endothoracic fascia is located directly beneath the thinned subcutaneous layer and pectoral fascia. Elevate the pectoral muscle on the “healthy” side along with the pectoral fascia (if present) on the affected side. Subperichondral resection of the costal cartilages is performed as shown by the dotted line. In rare cases, resection is performed to the level of the second costal cartilage.
D, A transverse corrective wedge sternotomy is performed below the second costal cartilage. After suturing the sternum with a thick silk thread, both posterior displacement and rotation of the sternum are eliminated.
F, For rib aplasia, split rib grafts are taken from the opposite fifth or seventh ribs and reinforced on the affected side with metal sutures medially into the previously created sternum and laterally to the corresponding ribs. The ribs are split as shown in the figure to maximize their mechanical strength.

Rice. 15-10 Computed tomogram of a 24-year-old patient with Poland syndrome. Depression of the ribs on the affected side (solid line) and a calcified deformity on the opposite side (hollow arrow) are visible. The mammary gland on the affected side is hypoplastic.

is a complex of developmental defects, including the absence of the pectoralis minor and/or major muscles, a decrease in the thickness of the layer of subcutaneous fatty tissue in the chest area, the absence or deformation of several ribs, the absence of a nipple or mammary gland, shortening of the fingers, complete or incomplete fusion of the fingers, and also lack of hair in the armpit area. The defect is unilateral, most often observed on the right. The severity of the disorders can vary greatly. The diagnosis is made based on clinical data, radiography, MRI and other studies. Treatment is usually surgical - thoracoplasty, correction of the defect with grafts, cosmetic interventions.

ICD-10

Q79.8 Other malformations of the musculoskeletal system

General information

Poland syndrome is a fairly rare congenital malformation. It is detected in one out of 30-32 thousand newborns. For the first time, partial descriptions of this pathology were made by Frorier and Lallemand in the first half of the 19th century, but the disease was named after the English medical student Poland, who also created a partial description of the defect in 1841. Occurs sporadically, family predisposition has not been proven. It is characterized by wide variability - in different patients there are significant differences both in severity and in the presence or absence of certain defects.

Causes

Experts in the field of thoracic surgery, traumatology and orthopedics suggest that the cause of this anomaly is a violation of the migration of embryonic tissues from which the pectoral muscles are formed. There are also theories linking Poland's syndrome to intrauterine damage or hypoplasia of the subclavian artery. None of these theories has yet received reliable confirmation.

Pathogenesis

The main and most constant component of this complex of developmental defects is hypoplasia or aplasia of the pectoral muscles, which can be supplemented by other signs. There may be slight underdevelopment or absence of costal cartilage. In some cases, on the affected side, not only muscles, fatty tissue and costal cartilages are completely absent, but also the bony part of the ribs. Other possible signs of Poland syndrome include brachydactyly (shortening of the fingers) and syndactyly (fusion of the fingers) on the affected side. Sometimes there is a decrease in the size of the brush or its complete absence.

The defective side may also show absence of a mammary gland (amastia), absence of a nipple (ately), and absence of hair in the armpit. In 80% of cases, a complex of defects is detected on the right side. With the left-sided version of Poland's syndrome, a reverse arrangement of internal organs is sometimes found - from dextracardia, in which the heart is on the right, and the rest of the organs remain in their place, to a mirror arrangement, in which a reverse (mirror) localization of all organs is observed.

With the left-sided version of the disease, the normal location of the heart and severe hypoplasia of the half of the chest, the heart remains poorly protected from external influences and can sometimes be located directly under the skin. In such cases, there is an immediate danger to the patient's life, since any blow can cause serious injury and cardiac arrest. In other cases, the consequences are not so serious and can range from deterioration in respiratory and circulatory functions due to deformation of the chest to a purely cosmetic defect due to the absence of muscles and/or the mammary gland.

Symptoms

Symptoms of Poland syndrome, as a rule, are clearly visible even to a non-specialist and are usually detected by parents in the first days of the baby’s life. Characterized by asymmetry of the chest, absence or insufficient development of muscles and underdevelopment of subcutaneous fatty tissue on one side. If the defect is located on the side of the heart, in the absence of ribs, you can observe the heartbeat just under the skin. In girls during puberty, the breast on the affected side does not grow or grows behind. In some cases (with muscle hypoplasia in the absence of other defects) in boys, Poland syndrome is diagnosed only in adolescence, when after playing sports, patients consult a doctor because of the asymmetry that has arisen between the “pumped up” normal and hypoplastic pectoral muscles.

There are four main options for the formation of the chest in Poland syndrome. In the first option (observed in most patients), the structure of the cartilaginous and bone parts of the ribs is not damaged, the shape of the chest is preserved, the anomaly is detected only at the level of soft tissues. In the second option, the bone and cartilaginous part of the ribs are preserved, but the chest has an irregular shape: on the affected side there is a pronounced retraction of the cartilaginous part of the ribs, the sternum is rotated (turned semi-sideways), and on the opposite side a keeled deformity of the chest is often detected.

The third option is characterized by hypoplasia of the costal cartilages while the bone part of the ribs is preserved. The chest is somewhat “skewed”, the sternum is slightly tilted towards the painful side, but no gross deformation is observed. In the fourth option, the absence of both cartilaginous and bone parts of one, two, three or four ribs (from the third to the sixth) is detected. The ribs on the affected side sink, and pronounced rotation of the sternum is detected.

Diagnostics

To confirm the diagnosis and determine treatment tactics for Poland syndrome, a number of instrumental studies are carried out. Based on chest radiography, the severity and nature of pathological changes in bone structures are judged. To assess the condition of cartilage and soft tissues, the patient is referred to MRI and CT scan of the chest. If secondary pathological changes in internal organs are suspected, consultations with a cardiologist and pulmonologist are prescribed, and external respiratory function tests, ECG, EchoEG and other studies are carried out.

Treatment of Poland syndrome

Treatment is surgical, usually starting at an early age, and carried out by plastic and thoracic surgeons. The scope of treatment measures depends on the presence and severity of certain pathological changes. Thus, in case of severe pathology with absence of ribs and deformation of the chest, a series of staged surgical interventions may be required to ensure the safety of internal organs and normalization of external respiration. And in the case of an isolated absence of the pectoral muscle and a normal shape of the chest, the only purpose of the operation is to eliminate the cosmetic defect.

If it is necessary to correct hand abnormalities (for example, to eliminate syndactyly), traumatologists and orthopedists are involved. If there is pathology in the internal organs, patients are referred to cardiologists and pulmonologists. The goal of treating the underlying pathology is to create optimal conditions for the protection and functioning of internal organs, restore the normal shape of the chest and restore normal anatomical relationships between soft tissues.

A genetically determined complex of developmental defects, including the absence of the pectoralis major and (or) minor muscles, partial or complete fusion of the fingers (syndactyly), their shortening (brachydactyly), absence of the nipple (ately) and (or) the mammary gland itself (amastia), deformation or absence of several ribs, a decrease in the thickness of the subcutaneous fat layer and the absence of hair in the armpit area.

The individual components of this syndrome were first described by Lallemand (1826) and Frorier (1839), but it was named after Alfred Poland, an English medical student who in 1841 gave a partial description of this deformity. A complete description of the costomuscular defect was published by Thompson 54 years later, in 1895.

In the vast majority of cases (about 80%), Poland syndrome is right-sided. The left-sided variant is sometimes associated with a reverse arrangement of internal organs, ranging from dextracardia, when only the heart is localized on the right, and up to the full form of the reverse (mirror) arrangement of internal organs. Deformation of the chest in this case varies from a mild degree of hypoplasia to the congenital absence (aplasia) of costal cartilages or even entire ribs on the side corresponding to the lesion.

To diagnose a costomuscular defect, a physical examination and x-ray are sufficient. In order to study internal organs and assess their condition, based on the specific clinical situation, additional research methods are prescribed.

Treatment of Poland syndrome is surgical and is aimed, firstly, at eliminating the rib defect and restoring the integrity of the bone frame, secondly, it should eliminate the existing retraction inside the half of the chest, and, thirdly, create normal anatomical relationships of soft tissues, including nipple modeling, breast prosthetics in women and muscle plastic surgery in men.

Technically, these are very complex operations that are performed at an early age. As a rule, a whole series of interventions is performed, since it is almost impossible to obtain a good result at once - this is usually associated with an unjustified increase in the duration of the intervention and an increase in its traumatic nature.

Funnel chest plastic surgery was performed by Dr. med. Rudakov S.S. and Ph.D. Korolev P.A.

Photo of an 18-year-old man with grade 2 VDHA, asymmetrical shape, aplasia of the pectoral muscles and mammary gland on the right. Before surgery and the result 7 months after surgery.

One year after the operation, it is planned to install a pectoral implant on the right

According to the plan, the bone deformity is first eliminated and the rib defect is replaced, and only then the transition to the next stages is carried out. Sometimes, in severe cases, autologous rib transplantation may be necessary. In case of hand anomalies (fused fingers), orthopedic surgeons are involved, in case of problems with internal organs, relevant specialists are involved.

Poland syndrome is a congenital pathology of the chest, shoulders and palms. The rare disease is diagnosed in 1 newborn out of 30,000. In 70% of cases, the anomaly is found in male infants, in 30% of cases - in female infants. The disease may be associated with dextracardia and mirror arrangement of internal organs. Pathology requires early diagnosis and early surgical intervention, which allows to achieve good results and gives the patient the opportunity to live a full life.

What it is

Poland syndrome is not a genetic disease. Scientists have not discovered the genes that are responsible for the transmission of pathology from parent to child. Doctors suggest that the anomaly is caused by a circulatory disorder in the vertebral and/or subclavian arteries at the 6th week of fetal development.

Poland syndrome is a right-sided pathology characterized by:

• underdevelopment of the chest muscles or their monolateral absence;
• defects of long bones, ribs, mammary glands or kidneys;
• anomaly of the upper limbs;
• pulmonary hernias and severe respiratory disorders.

In ICD-10, pathology is located in section Q65–Q79 “Congenital anomalies of the musculoskeletal system.” The syndrome was assigned the number Q79.8 “Other malformations of the musculoskeletal system.”

Types of disease

Depending on the location of the defect, the disease is conventionally divided into two types:

• right-sided – occurs in 80% of patients;
• left-sided - diagnosed only in 20% of cases.

Left-sided pathology is sometimes accompanied by a mirror arrangement of internal organs or dextracardia, in which the heart is located closer to the right side of the chest.

With a congenital defect, the costochondral frame and muscle corset can develop differently. Depending on the severity of the defect and its characteristic signs, four main stages are distinguished:

• Stage I – natural shape of the ribs, normal structure of cartilage and bone tissue, but there is a lack of muscle and subcutaneous fat layer;
• Stage II - the ribs are developed normally, but sink into the cartilage area, and on the other hand they have a keeled shape, the sternum is turned to the side;
• Stage III - the chest is severely skewed to the right or left due to underdeveloped cartilage tissue, the bones have a normal structure;
• Stage IV - the upper part of the body is greatly displaced, one to four ribs are missing.

Depending on the location, the pathology is divided into deformation of the lateral, posterior or anterior wall.

Causes of the anomaly

The causes of the defect have not yet been studied. Scientists put forward several theories about the origin of Poland syndrome. The most common is vascular. According to this theory, at the 6th week of intrauterine development in the embryo, blood circulation in the subclavian and/or vertebral region is disrupted and hypoplasia of a large artery or its branch occurs.

The diameter of the artery decreases, which leads to a decrease in blood flow speed and oxygen starvation of the tissues for which it is responsible. Tissue hypoxia is the main cause of underdeveloped muscles, mammary glands, subcutaneous tissue, skin and upper limbs. The smaller the diameter of the subclavian artery, the more severe the defect.

Other scientists believe that Poland syndrome occurs due to a failure in the migration of cells from which the rudiments of the muscle corset and osteochondral frame are formed in the embryo.

Doctors are trying to understand what factors lead to hypoplasia of the subclavian artery and failures. Some believe that intrauterine injuries to the fetus are to blame. Others consider chemical, environmental, infectious and radiation causes. There is also a theory about genetic predisposition, but there is no actual evidence of all these hypotheses yet.

Symptoms

Characteristic signs of Poland syndrome include:

• unilateral underdevelopment (hypoplasia) of the pectoralis major muscle;
• unilateral aplasia (absence) of the pectoralis minor or major muscle, usually of the costosternal part;
• deformation of the costal cartilages;
• aplasia or underdevelopment of one breast;
• lack of cartilage and/or bone tissue;
• local baldness of the chest and armpit;
• thinning of the skin and subcutaneous tissue;
• deficiency of body fat;
• atelia – absence of one or two nipples at once;
• deformation of the back muscles, as well as the serratus anterior and external oblique muscles.

The pathology is often accompanied by abnormalities in the development of the hand and arm:

• syndactyly - fusion of several fingers;
• brachydactyly - too short and small fingers;
• lack of a brush;
• abnormally small hand size.

Patients with the left-sided type of the disease may lack ribs that are supposed to protect the heart. The organ is located under a thin layer of skin and subcutaneous tissue, so any, even minor, injury to the chest can provoke disruptions in blood circulation, respiratory failure and cardiac arrest.

In rare cases, newborns are missing almost the entire bone corset. The pathology leads to lung herniation and respiratory failure, which develops at a very early age.

Poland syndrome is diagnosed in the first days or months of life. If the baby is missing ribs, parents may notice a pulsating heartbeat. It is clearly visible through the thin skin. Pathology is also indicated by abnormal development of the scapula or collarbone, funnel-shaped or keeled deformity of the thoracic region, rib hump and unnatural curvature of the spine.

Patients with the first stage of the disease are diagnosed with Poland syndrome in adolescence or adulthood. Girls notice that one breast does not grow, and there is no hair in the armpit located on the side of the defect.

Young men pay attention to their peculiarity when they begin to actively engage in sports and pump up their pectoral muscles. They notice that one side of the chest does not develop, although the other increases in volume and becomes more prominent.

Poland syndrome in the first and second stages does not affect hormonal levels and does not prevent a person from playing sports. Patients with the third and fourth stages of pathology often have impaired blood circulation, problems with blood pressure, disruptions in the respiratory system, and reduced resistance to respiratory diseases.

Children with serious disabilities suffer from chronic fatigue and fatigue, increased irritability, frequent headaches and drowsiness. They often lag behind their peers in development due to decreased ability to work and cognitive functions.

A disorder of arterial blood flow leads to hypoplasia of the kidney and lung located on the defective side, as well as to heart pathologies: clockwise rotation of the organ, expansion of its boundaries, or deviation from the normal location.

Diagnosis of anomaly

The diagnosis of Poland syndrome is confirmed by the surgeon. First, the doctor conducts a visual examination of the chest, then prescribes several examinations:

• X-ray – reveals the degree and type of bone tissue damage;
• computed tomography or MRI - allows you to study the condition of soft tissues and cartilage;
• Ultrasound of the subclavian artery - determines its diameter, helps to identify the characteristics of blood circulation and blood supply to deformed muscles;
• electrocardiography – allows you to diagnose heart pathologies.

• Dopplerography of the great vessels;
• Ultrasound of the heart;
• echocardiography;
• bicycle ergometry.

If there are problems with the lungs or impaired respiratory function, the patient is referred to a pulmonologist and offered to undergo spirography, as well as other additional examinations.

An integrated approach to diagnosis allows doctors to determine the degree of deformation and assess the scope of reconstructive interventions aimed at restoring the chest and improving the patient’s quality of life.

Treatment of Poland syndrome

The congenital anomaly is treated surgically. The type of operation depends on the stage of the pathology.

Treatment of the first stage

Patients with hypoplasia or aplasia of the pectoral muscle are recommended to consult a plastic surgeon and undergo surgery to eliminate the cosmetic defect. Surgical treatment consists of two stages:

1. Creation of a muscular frame and muscle layer. Doctors use the latissimus dorsi muscle for the procedure, and less commonly, the rectus abdominis muscle.
2. Implantation of a silicone prosthesis and nipple formation.

The operation is performed on both men and women. Patients with a displaced muscle are not prohibited from playing sports. The transplanted organ will not be able to fully develop, but this does not prevent men and women from achieving success in various sports.

An operation to eliminate a cosmetic defect is performed after 18–20 years. In childhood and adolescence, resorting to surgical intervention is pointless. The transplant may slow down the development of the chest and worsen the defect.

A surgical solution to the problem at an early age is advisable only for syndactyly. The child will need to consult an orthopedic surgeon. The doctor will develop the optimal treatment strategy for Poland syndrome and reconstruct the fused fingers.

If the anomaly does not interfere with the patient, plastic surgery may not be performed. Transplantation of the latissimus dorsi muscle does not affect the spine, but leads to slight asymmetry and scar formation in the armpit, from where the material is taken, so before the procedure you should carefully consider all its pros and cons.

Treatment of the second and third stages

Severe chest deformity is an indication for Nuss thoracoplasty. The minimally invasive procedure is usually performed in early or teenage years, but is not contraindicated in adult patients with Poland syndrome.

The operation increases the volume of the pleural cavities, triggers regression of respiratory disorders and is recommended for heart diseases caused by pectus excavatum.

Surgical treatment is performed under general anesthesia. The doctor makes several small incisions through which introducers - metal plates - are inserted into the chest. Structures made of titanium or steel pass under the ribs and give the bone tissue the correct shape.

Chest deformation can also be corrected with silicone or hydrogel endoprostheses. Implants visually reduce the defect and protect the heart from injury.

Treatment of the fourth stage

If one or more ribs are missing, it is worth resorting to reconstructive surgery. There are three main treatment methods:

• installation of a mesh frame or titanium ribs to protect the heart;
• splitting of healthy ribs located above and below the deformed area;
• transplantation of ribs from a healthy part of the chest.

The first option is recommended for children of preschool and school age. The mesh frame and titanium plates do not interfere with the normal development of the chest, while splitting and transplantation lead to serious complications and problems in adulthood.

The second and third methods are recommended for adult patients with Poland syndrome, although they raise many questions. Often, splitting of the ribs leads to their weakening, which is why modern surgery gives preference to metal implants and synthetic frames that replace muscle tissue.

Surgical patients are allowed to sleep on their stomachs and raise their arms, but are advised to avoid hitting the surgical area.

There is no prevention for Poland syndrome. Neither giving up bad habits, nor a balanced diet for parents, nor playing sports can prevent pathology, but children with the anomaly can become full-fledged members of society and live to a ripe old age. The main thing is to promptly seek help from a surgeon and follow all the specialist’s recommendations.

A rare anomaly of the intrauterine formation of the body structure, which mainly consists of hypoplasia of the sternal and costal parts of the pectoralis major muscle or its complete absence. It bears the name of an English surgeon who, back in his student years, described a specimen with a costomuscular defect that turned up to him while working part-time in a morgue. A. Poland was not the first; before him, individual cases had already received attention in France and Germany at the beginning of the 19th century, but it was his publication that marked the beginning of a serious study of this congenital pathology. At the turn of the 20th century, J. Thompson published a complete description of this disease. Since then, about 500 such cases have been described in the world medical literature.

, , , , , ,

ICD-10 code

Q65-Q79 Congenital anomalies [malformations] and deformations of the musculoskeletal system

Epidemiology

Morbidity statistics indicate that congenital costomuscular anomalies, expressed to varying degrees, occur on average in one newborn out of 30 thousand or slightly more children born alive. More often, boys are born with such developmental defects.

Up to 80% of deformities in Poland syndrome are right-sided. The disturbances are expressed to varying degrees, and there is no correspondence between the severity of the anomalies in the formation of the chest and hand.

, , , , , ,

Causes of Poland syndrome

The reasons for the birth of children with this anomaly remain hypothetical to this day. The mode of inheritance and the gene that transmits this pathology are not determined, but there are descriptions of rare family histories of Poland syndrome. Recessive inheritance is assumed. It is believed that the probability of transmission of the disease from a sick parent to their children is approximately 50%. Most cases are single. Risk factors for the birth of children with this anomaly are external and internal teratogenic effects on the embryo during the formation and development of organs and systems. There are several hypotheses explaining the etiology and pathogenesis of this costomuscular defect, but none of them is fully confirmed. The most likely assumption is that some unfavorable factor provokes insufficiency of embryonic blood supply in the sixth week of pregnancy, when the subclavian artery is formed. This causes its underdevelopment (narrowing of the lumen) and insufficient blood supply, which leads to local hypoplasia of soft tissues and bones. The extent of the lesion is determined by the degree of damage to the artery and/or its branches.

Symptoms of Poland syndrome

The first signs of this congenital anomaly are visually noticeable already in infancy by the characteristic appearance of the pectoral muscle and axilla. And in the presence of hypoplasia of the hand - from birth.

The symptom complex of the syndrome is as follows:

• unilateral insufficient development of the pectoralis major muscle or its fragments, most often the sternum and costal muscles;
• on the same side - hypoplasia of the hand: shortened, fused fingers or aplasia; insufficient development of the mammary gland or its absence, atelia; thinning of the subcutaneous fat layer; lack of armpit hair; structural anomalies of cartilaginous/bone rib tissue or their complete absence (usually III and IV).

The presence of all the features described in the second part is not mandatory; they can be combined with the first in a variety of options.

In addition to those listed, it is extremely rare that there may be structural anomalies of the latissimus dorsi muscle, causing asymmetry of the torso, hypoplasia or aplasia of the pectoralis minor muscle, abnormal development of the scapula and clavicle, a pectus with a funnel-shaped deformity, curvature of the spine and costal hump.

With the left defective side, transposition of the internal organs is often observed, in particular, the heart is displaced to the right. With a normal location of the heart in combination with the absence of ribs, it is practically unprotected and its beating is noticeable under the skin.

Poland syndrome in children is usually noticeable from birth, but in some cases of minor defects it becomes apparent around age three.

Based on location, defects in the structural elements of the chest are divided into deformations of the anterior, posterior and lateral walls.

Poland syndrome in girls during puberty, even in the mildest degree, makes itself felt by the fact that the breast on the defective side does not form or lags behind in development and is located noticeably higher than on the normal side. In mild cases of the disease in boys, the syndrome is sometimes detected quite late, in adolescence, when it is not possible to “pump up” the muscle on the defective side.

Poland syndrome in women does not affect hormonal levels and the ability to conceive a child.

In most cases, Poland syndrome is a cosmetic defect: most often the pectoral muscle is deformed or absent, there is no chest defect and there is a full-fledged hand. The motor functions of the upper limb are preserved, and nothing prevents such patients from intensively engaging in sports.

However, there are other, more traumatic types of this pathology. The consequences and complications of such cases are somewhat more serious. Depending on the severity of the deformities, the patient may develop respiratory and hemodynamic disorders. In cases of complete absence of the costochondral framework, a pulmonary hernia is usually found, and respiratory distress manifests itself from birth.

In more rare cases of left-sided pathologies in combination with the absence of ribs with a normal disposition of organs, the heart appears directly under the skin. The life of such a patient is constantly in danger associated with possible injury and cardiac arrest.

A child with a pronounced chest wall defect usually has hemodynamic problems due to decreased systolic and increased diastolic arterial blood pressure combined with increased venous pressure. Such children are characterized by increased fatigue, asthenic syndrome, and they may lag behind their peers in physical development.

Manifestations of Poland syndrome also concern the structure of the subclavian artery and/or its branches, which creates conditions for a disorder of arterial blood flow on the side of the defect.

Some anatomical anomalies in the structure and location of vital internal organs are observed. The degree of their severity can significantly complicate the patient’s condition. This is a deviation of the heart from its normal location in one direction or another, up to transposition, expansion of its borders or rotation clockwise, hypoplasia of the lung and kidney on the defective side.

Stages

There are four stages of chest formation in this disease.

The first is typical for most known cases, when only soft tissues are abnormally developed, and the shape of the chest and the structure of the cartilaginous and bone parts of the ribs are normal.

The second is when the deformations affect the chest: the defective side, while the bone and cartilaginous parts of the ribs are preserved, is slightly depressed in the area of ​​the costal cartilages, the sternum is turned semi-sideways, and on the opposite side there is often a protruding (keeled) part of the chest.

At the third stage, the structure of the bony part of the ribs is preserved, but the cartilaginous part is underdeveloped, the chest is asymmetrical, the sternum is sloping towards deformation, but no gross anomalies are detected.

The fourth stage is characterized by the absence of the cartilaginous and bone parts of ribs from one to four (from III to VI). On the defective side there is a depression in place of the missing ribs, the sternum is noticeably turned out.

Nevertheless, at any stage of the formation of the elements of the structure of the chest, the state of the child’s body can be normal (compensated), with periodic improvements (subcompensated) and with increasing deterioration in the functioning of the internal organs and skeletal system (decompensated). It depends on the individual characteristics of the organism, the pace of development, comorbidity and lifestyle.

, , , ,

Diagnosis of Poland syndrome

Costomuscular congenital pathology is determined visually, the doctor palpates the patient and prescribes radiography. This is usually sufficient to identify the extent and type of chest lesion. Computer and magnetic resonance imaging can provide a more accurate picture of the disease.

An ultrasound examination of the subclavian artery is also prescribed to determine its diameter, an ultrasound examination of the brain and other instrumental diagnostics as indicated.

To assess associated anatomical defects, consultation with a cardiologist and electrocardiography, ultrasound examination of the heart, bicycle ergometry, echocardiography and Dopplerography of the great vessels are necessary.

In case of respiratory disorders, a consultation with a pulmonologist is required, who may prescribe a study of the functional state of the lungs, for example, spirography.

Tests for this disease are usually within normal limits, provided there are no concomitant pathologies.

Differential diagnosis

Treatment of Poland syndrome

This pathology is subject to surgical treatment. Often, according to indications, it begins in early childhood. Sometimes several surgical interventions may be required, for example, in case of a severe chest defect or costal aplasia, to ensure the safety of the heart or normalize the respiratory system. Such operations are performed in thoracic surgery departments. Their goal is to form the best protection for internal organs, ensure their normal functioning, eliminate curvatures of the chest, restore it and recreate the natural anatomical relationship of soft tissues.

The main and most difficult stage of surgical treatment of this syndrome is the elimination of curvature of the skeletal elements of the chest and replacement of missing ribs. Various thoracoplasty techniques are used. In the case of the right-sided location of the defect and the absence, for example, of the 3rd and 4th ribs, a split of the 2nd and 5th ribs is made. The deficiency of four ribs is corrected by transplanting part of the ribs taken from the healthy side of the patient’s chest. In modern medical practice, preference is given to titanium implants for patient tissue transplantation.

For preschoolers, a dense mesh is placed in the area of ​​the rib defect that protects the internal organs and does not interfere with the further development of the ribs, since costal plastic surgery in children can lead to secondary curvature of the skeletal elements of the chest caused by the uneven formation of the child’s healthy and operated ribs.

Surgical correction of severe curvature of the sternum is carried out using a wedge-shaped sternotomy.

If there is underdevelopment of the hand, prompt assistance is provided by orthopedists and traumatologists.

In the first stage of Poland syndrome, the only purpose of surgery is to eliminate the cosmetic defect. If there is a defect in the pectoral muscles, the normal anatomical relationship is restored either using the patient’s muscle tissue (part of the serratus anterior muscle or rectus abdominis muscle can be used for this) or with a silicone prosthesis. For men, individual silicone prostheses are more desirable, since muscle transplantation does not provide a full cosmetic effect and instead of one muscle defect, two appear. However, the choice of surgical method is always determined depending on the specific case.

For women, the latissimus muscle is moved from the back forward, simultaneously creating a muscular frame and layer. After waiting for healing, reconstructive mammoplasty is performed.

These operations are considered pure; preventive drug therapy is prescribed individually, taking into account the volume of the operation, the presence of implants, drug tolerance, age and concomitant diseases of the patient. The minimum amount of drug prophylaxis includes preoperative antibiotic therapy (prescribed an hour before the start of the operation and ends no later than a day or two later), anesthesia and sedation, restoration of intestinal function and drainage of the pleural cavity (if thoracoplasty is performed). The most used in the prevention of bacterial complications are cephalosporin antibiotics of the second and third generations.

Cefuroxime– ß-lactam bactericide with a wide range of activity, the mechanism of action is to interrupt the synthesis of the bacterial cell wall. Antagonist of strains of gram-positive and gram-negative bacteria, including those resistant to synthetic penicillins - ampicillin and amoxicillin. After intramuscular administration of 0.75 g of the drug, the maximum serum level is observed after no more than an hour, intravenous - after 15 minutes. The required concentrations remain for more than five and eight hours, respectively, they are fixed in bone and soft tissues, and skin. Eliminates completely within 24 hours. Contraindicated in case of sensitization to other cephalosporins, with caution in case of allergy to penicillin drugs.

If you are allergic to cephalosporins, you may be prescribed Vancomycin. This drug is used only intravenously over an hour (0.5 g after six hours or 1 g after twelve). For patients with renal dysfunction, the dose is adjusted.

Before prescribing an antibiotic, a sensitivity test is usually done so as not to complicate the operation. Side effects, except allergic reactions, can be neglected with short prophylaxis.

On the first day after surgery, pain relief is carried out with narcotic analgesics. For example, Promedolom, an opioid pain reliever that significantly increases the pain threshold, inhibits reactions to stimuli, calms and speeds up the process of falling asleep. It is used in the form of injections, subcutaneous and intramuscular. The highest dose is 160 mg per day. The body occasionally reacts to the administration of this drug with nausea, dizziness, and the development of euphoria.

On the second day after surgical treatment, the narcotic drug is alternated with a non-narcotic drug, then Promedol is prescribed only before bedtime.

In the postoperative period, before spontaneous bowel movements, patients are given hypertonic enemas, the consumption of sweets and carbonated water is excluded, Prozerin, which stimulates the secretory function of the glands of the gastrointestinal tract, as well as sweat and bronchial glands, tones the smooth muscles of the intestines and bladder, as well as skeletal muscles. Contraindicated in case of sensitization, thyrotoxicosis, severe pathologies of the cardiovascular system. Take orally half an hour before meals, the daily dose (no more than 50 mg) is divided into two or three doses.

Drugs that improve blood circulation in tissues and supply them with oxygen are also prescribed: Riboxin, Solcoseryl, Actovegin - improving metabolic processes, blood microcirculation and healing of postoperative wounds.

To monitor the pleural cavities in the early postoperative period, ultrasound examination is used to detect blood and transudate there and perform pleural drainage.

After the rib transplant surgery, the patient is observed in the hospital for approximately 14 days, the recovery period lasts several months. After surgery, it is recommended to limit physical activity and avoid pushing or hitting the surgical area for a year.

Muscle plastic surgery is a less traumatic operation; the patient is usually discharged after two or three days; physical activity must be limited for a month.

Rehabilitation activities should promote rapid detoxification of the body and normalization of metabolic processes, improvement of blood microcirculation and tissue restoration in the surgical area. Patients are prescribed vitamins (C, A, E, group B, D3, calcium, zinc) that promote healing of skin, soft tissues and bones, strengthen the immune system and improve the general condition of the body. In the hospital, vitamins are administered intramuscularly and orally; upon discharge, the doctor may recommend taking vitamin-mineral complexes.

After surgical treatment, the circulatory and respiratory systems adapt well to the background of medicated sleep. From the first to the tenth day of treatment, patients are recommended breathing exercises, massage and physical therapy.

During the rehabilitation period, physiotherapeutic treatment is prescribed, aimed at increasing the tone of skeletal and respiratory muscles, developing correct posture and walking: electrophoresis, electro- and magnetic therapy, thermal treatment procedures (therapeutic mud, paraffin, ozokerite), hydrotherapy (swimming, hydromassage, pearl baths) .

Alternative Treatment

Traditional treatment can help in preparation for surgery and stimulate recovery processes in the body, saturating it not with synthetic, but with natural vitamins.

It is useful to consume vitamin-mineral mixtures that strengthen the immune system, improve blood circulation and accelerate the healing of postoperative wounds.

1. Grind in any way 500 g of cranberries, a glass of peeled Voloshsky nuts, four large apples with green skin, removing the core. Add half a glass of water and 500 g of sugar, put on low heat. Bring to a boil, stirring regularly. Store in a jar with a lid. Take a tablespoon several times a day.
2. Grind dried apricots, raisins, voloshka nuts, lemons in equal parts by any method, removing the seeds, but with the peel. Pour in the same amount of honey and mix well. Store in the refrigerator in a glass jar with a lid. In the morning, 30 minutes before meals, eat a tablespoon of this mixture.

It is good to drink freshly prepared juices from available vegetables and fruits (in winter - carrot, apple, citrus), they can be mixed, for example, the classic combination - carrot and apple. The course of juice therapy is continued for three weeks, week 1 - half a glass once a day in the morning before meals, week 2 - the same amount, but in the morning and before lunch, week 3 - again once a half glass. The course can be repeated, but not earlier than ten days later.

You can brew tea, both black and green, with dried pieces of citrus peel.

You can boost immunity and improve blood circulation, especially in winter and spring, when the body is deficient in vitamins, using an arsenal of herbal treatments. The following mixtures of medicinal herbs are drunk instead of tea at breakfast after meals.

1. Mix crushed nettle and lemongrass leaves (150 g each) with 50 g of sage. Brew a teaspoon of herbal mixture with boiling water in a thermos in a volume of 200 ml. After two hours, strain and add a teaspoon of honey.
2. Prepare a herbal mixture from crushed string grass, strawberry leaves, and chamomile flowers. Brew a tablespoon of the mixture with boiling water (250 ml), strain after 20 minutes.

Drink an infusion of dried red rowan, half a glass four times a day: brew ½ liter of boiling water, two tablespoons of berries, leave for at least a quarter of an hour, strain, you can add honey.

Homeopathy belongs to conservative methods of treatment and is unlikely to help correct congenital deformities, however, homeopathic medicines are quite capable of preparing for surgery or activating the recovery process. Arsenicum album, Arnica, Mancinella promote wound healing, Calcarea fluorica and Calcarea phosphorica promote bone fusion. Please note that homeopathic medicines must be prescribed by a homeopathic doctor.

Pharmacy homeopathic medicine Traumeel S can be used in the postoperative period, taking advantage of its high restorative qualities. The effectiveness of the drug is due to its ability to activate the chain of reactions of the immune system, stimulating the clone of Th3 lymphocytes. As a result, the balance of pro- and anti-inflammatory cytokines at the surgical site is normalized, which helps eliminate swelling, pain, and hyperemia. Restores impaired blood microcirculation and tissue functions.

Injections are made intramuscularly and intradermally, under the skin, using the method of biopuncture and homeosiniatry. The daily dosage for patients aged six years and older is 2.2 ml, for those under six years old – no more than 0.55 ml. In severe cases, adults can administer two ampoules during the day.

When the condition improves, they switch to the tablet form of the drug (sublingually): patients from the age of three can be prescribed a tablet in three doses, 0-2 years - half a tablet in three doses. To relieve acute conditions, the tablets are dissolved at intervals of a quarter of an hour. This procedure can be carried out within two hours (no more than eight doses).