Causes of congenital heart defects in children. Causes of congenital heart defects Congenital heart defects occur when

Congenital heart defects in children are a group of pathological conditions of the cardiovascular system that arose during the perinatal period. Depending on the type of disease, there is a characteristic symptomatology, which is accompanied by a variety of complications. CHD in children must be monitored and treated in a timely manner, to give the child a chance to live without restrictions.

Development mechanism

For the full development of the fetus, it needs its own blood circulation, so the cardiovascular system develops earlier than others - the formation begins already on the 14th day after conception. After 22 days, the heart begins to pulsate, and after a few more days, the blood begins to circulate. And, although the cardiac system during this period is still at the initial stage of formation, much depends on how the processes of fetal development, the state of the mother and external factors proceed.

Congenital malformations of the cardiovascular system develop from 14 to 60 days from conception. In the normal course of pregnancy and the correct development of the fetus, by the second month, the baby's heart should be formed:

• partitions grow, the heart becomes four-chambered;
• there is a division of the arterial trunk into the aorta and the pulmonary artery;
• the ventricle is divided into two halves;
• heart valves are formed.

But, the influence of negative factors leads to the fact that the development of the cardiac system fails - this is how congenital malformations are formed.

From the 12th week of pregnancy, you can determine what pathologies can develop in a child. This allows parents to decide whether to terminate or continue the pregnancy. But, it should be borne in mind that there is a possibility of a medical error and the child can be born healthy. In any case, the suspicion of congenital heart disease in a child allows you to prepare for possible operations that must be performed immediately after birth in order to save his life.

Factors affecting the development of CHD

In most cases, congenital heart disease in children occurs as a result of a genetic predisposition. If someone in the family has been diagnosed with congenital diseases of the cardiac system, then with a high probability they will be transmitted to the child.

The presence of defects in parents and the likelihood of their development in a child is considered as a percentage. So, it occurs in 13% of couples, if one of the parents has a history of CHD. Other types of pathologies occur with a probability of 1-10%.

The development of congenital heart disease in a child is influenced by the lifestyle of the mother during pregnancy planning and gestation. This includes not only nicotine and alcoholic beverages, but also medication. Which medicines are unsafe:

• blood thinners with the active ingredient warfarin sodium (Warfarin, Marevan, Warfarex);
• anticonvulsants and antiepileptic drugs;
• corticosteroid agents;
• immunosuppressive agents;
• psychostimulants;
• barbiturates.

A high risk of developing congenital pathologies of the heart and other organs in children whose mothers worked in adverse conditions. Lifting weights or inhaling chemical fumes adversely affects the development of the fetus. Infectious diseases transmitted by the mother are very dangerous for the child's cardiac system.

Even a mild illness in the first trimester can affect the development of the heart and circulatory system.

Transfer during pregnancy by the mother of infectious diseases such as toxoplasmosis, measles, herpes, rubella and chickenpox affects the overall development of the fetus, including the circulatory system.

An important role in the formation of defects is played by chronic diseases of the mother:

• diabetes;
• autoimmune diseases;
• epilepsy;
• phenylketonuria;
• nephrogenic hypertension;
• severe kidney pathology.

A high risk of congenital heart disease in a child, if the mother is younger than 17 or older than 40, women of this age should visit the doctor more often and undergo examinations than others. Abnormal development of the cardiac system can occur with severe toxicosis of the first trimester, prolonged stress and the threat of miscarriage in the early stages.

Types of UPU

More than a hundred CHD are known, and in order to accurately describe the state of the cardiac system, these pathologies are usually divided according to several criteria. First of all, defects are determined by the place of localization:

• in the valve apparatus;
• in the heart vessels;
• in the walls of the heart muscle;
• in the interventricular septum.

Scientists have proposed several classifications of congenital heart diseases on similar grounds, but the most general systematization is into "blue" - with the presence of cyanosis and "white" - without cyanosis of the skin. "Blue" defects are diagnosed when venous blood, entering the systemic circulation, penetrates into all tissues of the body, causes a lack of oxygen, which leads to cyanosis.

There are two subspecies: with enrichment and depletion of the pulmonary circulation. Blue vices include:

• transposition of the great vessels;
• double vessels of the right ventricle;
• abnormal drainage of the pulmonary veins;
• Ebstein's defect;
• common arterial trunk.

"White" defects are characterized by the release of arterial blood into the venous. Most children appear completely healthy for many years, and symptoms only appear during periods of active growth, puberty, and prolonged stress.

Anomalies without cyanosis are divided into 4 subspecies:

• with enrichment of the pulmonary circulation;
• with depletion of the small circle;
• with depletion of the great circle;
• defects associated with an abnormal location of the heart, without circulatory disorders.

White vices include:

• open oval window;
• coarctation of the aorta;
• stenosis of the bicuspid, valves and pulmonary artery.

There is an international classification of the UPU, which distinguishes not only "white" and "blue" anomalies, but also the following types:

• with cross ejection of blood (a combination of cyanotic and non-cyanotic defects);
• valvular heart disease;
• anomalies with impaired hemodynamics;
• ventricular muscle defects;
• heart rhythm disturbances;
• coronary artery defects.

Based on circulatory disorders, 4 degrees are distinguished according to the increase in signs:

• minor changes;
• moderate manifestations;
• sudden;
• terminal.

If a terminal stage occurs, then often even surgical intervention is powerless, therefore the treatment of CHD should begin in a timely manner.

The overall picture of the UPU

Symptoms of CHD in childhood can manifest themselves in different ways, depending on the type of pathology. In some children, from the first day of life, characteristic signs of heart disease are noticeable, in others, the symptoms of CHD occur at a younger preschool age, in others, the first manifestations of congenital anomalies develop only by adolescence and most often these are “white” defects.

There are common symptoms of congenital heart defects:

• discoloration of the skin and mucous membranes - they either become bluish or become much paler than usual;
• constantly cold extremities;
• excessive sweating;
• pulsation and swelling of the cervical vessels;
• fast fatiguability;
• restless sleep;
• permanent "bruises" under the eyes;
• frequent shortness of breath, even at rest.

An additional sign in infants is blue lips and cheeks during feeding and crying. Children with CHD are very restless, they often refuse to breastfeed and sleep restlessly. All this affects their development, compared to healthy peers, babies with defects later begin to master the necessary skills, gain little weight.

In severe conditions, there are attacks of suffocation and short-term loss of consciousness. But it is impossible to make a diagnosis of congenital heart disease only on these grounds; children with diseases of the central nervous system have similar symptoms.

In children with CHD, it is observed, which is characterized by shortness of breath, increased heart rate, swelling and plethora of internal organs. I single out 4 degrees of this state:

• Mild degree, which often does not require treatment. The child's condition is stable, minor deviations are diagnosed during the examination.
• At this stage, the symptoms are more pronounced, breathing problems are observed, the child loses his appetite.
• Lack of oxygen affects the functioning of the nervous system - developmental problems are added to cardiac pathology.
• The severe (terminal) stage is characterized by depressed breathing and.

Insufficient supply of oxygen to organs and tissues affects metabolism. In the body of a child, toxic metabolic products with an acidic reaction begin to accumulate. There is increased acidity - acidosis, the decompensatory stage of which can be fatal, especially in infancy.

Open oval window

Of all the types of CHD, this type of pathology is much more common than others. Normally, every child in the perinatal period has a hole between the right and left atrium, but after birth it overgrows within a few months. In some children, the foramen ovale may be open until the age of two, but if it does not increase, but, on the contrary, becomes smaller, then this condition does not require treatment.

Children with this atrial septal defect need to have an ultrasound of the heart every 6 months in order to monitor its condition in dynamics. In most children, an open oval window does not manifest itself in any way, and many learn about their defect only in adulthood.

An open oval window may be accompanied by the following symptoms:

• Cyanosis;
• fast fatiguability;
• dizziness;
• short-term loss of consciousness.

Children with such a defect are prone to colds, so they need to be protected, since during the illness the load on the heart and blood vessels increases.

Open arterial disease

The ductus arteriosus lies between the aorta and the pulmonary artery and is only needed during pregnancy to transport blood. If the birth took place on time without complications and the child was born with a normal weight, then this duct closes within a few days. In premature babies, the period of closure of the arterial duct can be up to three months. If after this time there was no closure, then they say about the presence of a congenital defect.

A small duct does not manifest itself in any way, and it can be detected only with the help of ultrasound. Indirectly, the following signs indicate a wide duct:

• lag in height and weight from the norm;
• having difficulty breathing;
• pale integuments of the skin;
• restless sleep;
• poor appetite.

All these signs may accompany other diseases not related to the cardiac system, so a thorough examination of the child is required. If treatment is not done in a timely manner, then a small protrusion appears on the child's chest. When listening, noises are heard, but only an experienced specialist can listen to them. In children with this anomaly, it often occurs, which can lead to the death of the child.

Transposition of the great vessels is a serious defect in which the aorta and pulmonary artery are located incorrectly - the aorta departs from the right heart, and the pulmonary artery from the left. With such a structure, the large and small circles of blood circulation do not communicate with each other and the venous blood is not saturated with oxygen.

From birth, the child has been observed, although in the first days the condition is satisfactory. Gradually increasing symptoms:

• shortness of breath occurs;
• pulse quickens;
• swelling is formed.

The child's body tries to make up for the defect in the increase in blood volume, which leads to overload of the heart and severe heart failure.

The heart begins to grow in size, changes in the lungs are visible during the examination, the liver begins to malfunction and also increases. This defect is incompatible with life and requires an urgent operation to move the vessels.

Diagnostics

Heart disease in a child is often detected during pregnancy, then immediately after birth, an examination is carried out to confirm or remove the diagnosis. In some children, heart defects are detected at a pediatrician's appointment when listening - heart murmurs are heard, which should not be.

If CHD is suspected, the child is prescribed a comprehensive examination, which may include the following methods:

• Fetal echocardiography is an ultrasound examination that is performed even in the perinatal period, when the child is in the womb.
• Ultrasound of the heart - is performed to detect pathologies of the heart, determine its structure, size and check the condition of blood vessels and valves.
• - allows you to assess the condition of the heart muscle.
• Holter monitoring - reveals hidden arrhythmias and cardiac conduction.
• Chest x-ray - reveals the size of the heart and lungs. Sometimes it is carried out with the introduction of a contrast agent through the catheter.
• Pulse oximetry - checking the level of oxygen saturation in the blood.
• MRI and CT are performed when there is doubt about the diagnosis.

For diagnosis, the results of studies of general and biochemical blood tests are necessary in order to understand how much the chemical composition of the blood changes, and to identify violations of internal organs.

How is congenital heart disease treated?

Treatment of CHD depends on the severity of the pathology, the age of the child and concomitant diseases. In most people, congenital heart disease is in the stage of compensation and does not threaten health throughout life. To maintain this state, monitor your health and follow a few rules:

• Timely undergo heart examinations.
• Refuse heavy physical activities, limit yourself to light sports: gymnastics, swimming or physiotherapy exercises.
• Follow the daily routine, get enough sleep.
• Eat right, limit the intake of foods high in cholesterol. Control the amount of salt consumed and observe the drinking regimen.
• Avoid nervous tension, protect yourself from stressful situations.

Drug therapy is aimed at reducing the symptoms of the disease. To do this, prescribe drugs aimed at normalizing breathing, lowering pressure, and eliminating tachycardia. Defects of the "white" type can be permanently maintained by drug therapy without surgical intervention.

"Blue" anomalies in 90% of cases require surgery in early childhood. The success of the operation depends on the timeliness of its implementation. More than 70% of operations guarantee a complete recovery of the child. There are cases when operations on the heart of a child were performed in the womb. But these very complex manipulations are not used as often as necessary, since most hospitals do not have the necessary equipment and highly qualified specialists.

There is a way to conduct operations with UPU:

• closed - the intervention is carried out on the vessels, without affecting the heart;
• open - performed abdominal surgery on the heart.

When the life of the patient is threatened, emergency operations are performed. In most cases, they are performed at an early age or immediately after birth. Emergency interventions are also carried out in severe conditions, but it is possible to prepare for the operation and conduct all the necessary examinations.

Planned interventions are carried out if there is no direct threat to life, but the operation is necessary so that the child's condition does not worsen. In some cases, one surgical intervention is enough, but, in difficult situations, repeated operations may be required.

After the operation, a recurrence of the defect may occur - vascular stenosis, valve insufficiency, coarctation of the aorta. According to statistics, less than half of children with relapses live more than 10 years. During prosthetics, the following problems arise - the child grows out of the prostheses and there is a need for repeated intervention, therefore, if it is possible to delay the operation, it is carried out as late as possible.

Children with congenital malformations of the cardiac system often have complications of infectious diseases of the respiratory system. Colds almost always occur with complications that cause increased stress on the heart. Pulmonary artery stenosis and combined malformations increase the risk of developing tuberculosis. Due to impaired blood circulation, the child's immunity is not able to cope with the disease, which leads to death.

After prosthetics, children have a high risk of thrombus formation at the site of the prosthesis, so they have to constantly take blood thinners. The greatest likelihood of such a complication after prosthetics of the tricuspid valve.

Children with CHD are often insecure and emotionally unstable - due to physical limitations, relationships in the children's team do not develop. Many have difficulties in learning, which is associated not only with the influence of defects on the central nervous system, but also with frequent absences from classes due to illness.

Some CHD, for example, an atrial septal defect or, subject to a healthy lifestyle, do not adversely affect the child's condition. Most of them learn about their defect only as adults.

If a congenital heart disease significantly affects the health of the child, then the issue of establishing disability is decided. Depending on the type and severity of the anomaly, lifelong or temporary disability is established. Sometimes, after the operation, the disability is removed or a less severe group is established.

Cardiologists distinguish between congenital and acquired PS. Congenital heart disease, the causes of which are associated with infection and various diseases, has a specific clinic.

The anomaly under consideration occurs during the period of 2–8 weeks of pregnancy. It occurs in 5 newborns out of a thousand. Congenital heart defects are a group of diseases in which there are anatomical defects in the main organ, its valves or blood vessels that have arisen in utero. Such pathologies lead to changes in systemic hemodynamics.

Medical indications

A congenital ailment manifests itself taking into account its type. With the development of CHD, pallor, a heart murmur are observed.

With the manifestation of the above clinic, an ECG, FCG, EchoCG, and aortography are prescribed. The etiology of the appearance of CHD is associated with chromosomal abnormalities, alcoholism, and an infectious process.

In 2-3% of cases, the cause of heart disease is a chromosomal disorder caused by a mutation of several genes. Other causes may be heredity and medication during pregnancy. The risk of recurrence depends on the severity of congenital heart disease, which is part of some syndromes.

The main cause of congenital heart defects is infection or viral intoxication during pregnancy. The peak of the infectious process falls on the period of intensive formation of fetal systems and organs.

Factors in the appearance of CHD are the abuse of medicines and alcoholic beverages. The anticonvulsant "Hydantoin" has a teratogenic effect. Against the background of its reception, stenosis of the artery may develop.

With the abuse of "Trimetadoin", hypoplasia is formed, and lithium preparations lead to Ebstein's syndrome. The main causes of congenital heart disease are progestogens and amphetamines.

Physicians refer antihypertensive drugs and oral contraceptives to the factors of negative impact in the formation of CHD.

Against the background of alcoholism, septal defects appear, an arterial open defect occurs. If a pregnant woman abuses alcohol, there is a risk of developing embryofetal syndrome.

Metabolism and UPU

In 3-5% of cases, diabetes leads to the formation of a defect. The higher its degree, the greater the chance of CHD. Scientists distinguish 2 groups of causes of the considered anomalies associated with the development of the fetus:

• extracardiac - against the background of extracardiac anomalies;
• heredity.

Group 1 causes lead to septal defects, complete heart block. The presence of a pleural cavity and effusion in the peritoneum is a consequence of CHD. If a pregnant woman has a defect, then a delay in the intrauterine growth of the embryo is allowed.

Risk group 2 includes the following factors:

• CHD in mother or father;
• infectious process;
• metabolic pathology;
• coffee abuse (more than 8 g per day).

In a separate group, cardiologists distinguish environmental factors. The main factors involved in genetic mutations are:

• physical, which ionize radiation;
• chemical - phenols of various chemical products (gasoline, paints), components of teratogenic drugs (antibiotics);
• biological (rubella virus, which affects the mother, which contributes to intrauterine infection).

Anomaly and gender

Scientists are trying to establish the relationship between gender and CHD. The first such study was carried out in the 1970s. According to the data collected by several cardiac surgery centers, scientists have established a clear relationship between the type of anomaly and the gender of the patient. Taking into account the sex ratio, scientists divided the CHD into the following groups:

• women's;
• neutral;
• men's.

Clearly expressed female congenital malformations include various septal defects, Lautembacher's syndrome, pancreatic hypertrophy. Aortic coarctation and a total SLV anomaly are among the clearly defined male EPs. The rest of the vices are neutral.

They are found equally in males and females. Of the neutral CHD, simple and complex defects, including Ebstein's anomaly, are more often diagnosed.

Simple anomalies of this group include an atavistic defect caused by an ontogenetic factor. Such an anomaly is associated with a stop in the development of the main organ at an early stage in the life of the embryo.

In this case, various anomalies of the organ are formed. More often this diagnosis is made to women. With complex EPs of a neutral type, the sex ratio directly depends on the predominance of the male and female components in them.

The causes of many of the defects of the above groups are still unknown. But scientists have proven that if there is a child with such a diagnosis in the family, then the risk of having other children with CAP increases significantly. This phenomenon is observed in 1-5% of cases.

CAP can develop if a woman's body was exposed to radiation during pregnancy.

A similar picture is observed in drug-addicted pregnant women and in those who abuse lithium and warfarin.

Particular attention is paid to viruses that entered the mother's body in the 1st trimester. Dangerous viruses include hepatitis B and influenza.

Research results

Taking into account recent studies, scientists have concluded that children of pregnant women who suffered from obesity or overweight are 40% more likely to be born with CAP or other disorders in the work of the main organ.

In mothers with normal weight, offspring are born without anomalies. What is the relationship between the weight of a pregnant woman and the risk of developing a defect? Scientists have not established a causal relationship between these criteria.

Common causes of acquired malformation include rheumatism and endocarditis of an infectious nature. Less commonly, CAP occurs against the background of atherosclerosis, syphilis, and trauma.

The causes of congenital malformation include the combined influence of external factors and genetic predisposition. If an anomaly has already been detected in the family of a pregnant woman or a future father, then there is a high probability of having a child with such a defect.

Expectant mothers are shown complete mental and emotional peace. If during pregnancy a woman is exposed to physical and psycho-emotional influences, then the risk of a defect in the child increases.

Sometimes children with CAP are born if the pregnant women were in constant agitation. These factors are individual. The degree of development of the defect in a child depends on the general condition of his mother.

Established connection

Scientists have proven that children with various defects are born more often in smoking pregnant women. At the same time, an important factor in the birth of a child without deviations and anomalies under consideration is the health and heredity of the father.

Studies on the etiology of CHD have helped to identify the following risk factors for the birth of a child with heart disease:

The above reasons and factors are not a contraindication to conception. To accurately assess the risk of developing an anomaly, a consultation with a geneticist is required. If the disease is treated in a timely manner, the child will be able to live a full life.

Development of anomalous phenomena

The heart of the fetus begins to beat on the 22nd day after conception. The main organ in this period is a simple pipe. On days 22–44, it bends, a loop forms. On day 28, the heart is equipped with 4 chambers. It is during this period that vice develops.

If the mother or father has various defects in the septa of the main organ, then the child may have a hole in the heart. With such an anomaly, blood enriched with oxygen is mixed with blood without oxygen.

Sometimes the clinic in question in parents leads to the appearance of a hole between the atria and the development of the Botallian duct. After the birth of the child, the latter phenomenon disappears.

Under the influence of external factors, blood entering the organs from the aorta can enter the lungs. Against the background of this clinic, oxygen starvation of the brain occurs.

The mother or father of the child may have problems with blood flow, which is inherited. In children of such parents, the valves of the main organ narrow.

Difficulty pumping blood. Against this background, the child has aortic stenosis. In this case, the heart begins to work harder, which leads to hypertrophy.

The main causes of cardiac anomalies (in specific cases) are:

1. Problems with CS. If the mother or father has problems with the structure (location) of the vessels extending from the main organ, then the child may develop transposition of the vessels. Such a phenomenon is considered dangerous and, in the absence of concomitant anomalies, can be fatal.
2. Valve problems. If the valves of the future parents do not work well, then there is a risk of a defective tricuspid valve. This blocks the normal flow of blood to the lungs.
3. Combined CHD - newborns may develop multiple anomalies. Tetralogy of Fallot combines 4 vices. The reasons for the occurrence of several anomalies in a child include a similar clinic that occurs in his mother during pregnancy.

If the newborn has breathing problems, other signs of CHD appear, a comprehensive examination is prescribed. After deciphering the results of the diagnosis, adequate treatment is prescribed.

Heart defects can occur in isolation or in combination with each other. Congenital heart disease can appear immediately after the birth of a child or be hidden. Congenital heart defects occur with a frequency of 6-8 cases per thousand births, which is 30% of all malformations. They rank first in terms of mortality of newborns and children of the first year of life. After the first year of life, mortality decreases sharply, and in the period from 1 year to 15 years, no more than 5% of children die. It is clear that this is a big and serious problem.

Treatment of congenital heart anomalies is possible only by surgery. Thanks to the advances in cardiac surgery, complex reconstructive surgeries for previously inoperable congenital heart disease have become possible. Under these conditions, the main task in organizing care for children with CHD is the timely diagnosis and provision of qualified care in a surgical clinic.

The heart is like an internal pump, consisting of muscles, which constantly pumps blood through a complex network of blood vessels in our body. The heart consists of four chambers. The two upper chambers are called the atria and the two lower chambers are called the ventricles. Blood flows sequentially from the atria to the ventricles, and then to the main arteries thanks to four heart valves. Valves open and close, allowing blood to flow in only one direction. Therefore, the correct and reliable work of the heart is due to the correct structure.

Causes of congenital heart defects

In a small part of cases, congenital malformations are of a genetic nature, while the main reasons for their development are considered to be external influences on the formation of the child's body mainly in the first trimester (viral, for example, rubella, and other maternal diseases, alcoholism, drug addiction, the use of certain drugs, exposure to ionizing radiation radiation, etc.).

One of the important factors is also the health of the father.

There are also risk factors for the birth of a child with congenital heart disease. These include: the age of the mother, endocrine diseases of the spouses, toxicosis and the threat of termination of the first trimester of pregnancy, a history of stillbirths, the presence of children with congenital malformations in the next of kin. Only a geneticist can quantify the risk of having a child with CHD in the family, but every doctor can give a preliminary forecast and refer parents for a medical and biological consultation.

Manifestations of congenital heart defects

With a large number of different congenital heart diseases, seven of them are most common: ventricular septal defect (VSD) accounts for about 20% of all cases of congenital heart defects, and atrial septal defect (ASD), patent ductus arteriosus (PDA), aortic coarctation, aortic stenosis, stenosis of the pulmonary artery and transposition of large main vessels (TCS) at 10-15% each. There are over 100 different congenital heart defects. There are a lot of classifications, the latest classification used in Russia corresponds to the International Classification of Diseases.

The division of defects into blue, accompanied by cyanosis of the skin, and white, in which the skin is pale in color, is often used. Blue-type defects include tetralogy of Fallot, transposition of the great vessels, pulmonary atresia, white-type defects include atrial septal defect, ventricular septal defect, and others.

The earlier a congenital heart disease is detected, the greater the hope for its timely treatment.

A doctor may suspect that a child has a heart defect based on several signs:

• A child at birth or shortly after birth has a blue or bluish color of the skin, lips, ears. Or cyanosis appears when breastfeeding, crying baby.
• With white heart defects, blanching of the skin and coldness of the extremities may occur.
• The doctor, when listening to the heart, detects murmurs. Noise in a child is not a mandatory sign of heart disease, however, it forces a closer examination of the heart.
• The child shows signs of heart failure. This is usually a very unfortunate situation. Changes are found on the electrocardiogram, x-rays, and echocardiography.

Even with a congenital heart disease, for some time after birth, the child may look quite healthy outwardly during the first ten years of life. However, in the future, heart disease begins to manifest itself: the child lags behind in physical development, shortness of breath appears during physical exertion, pallor or even cyanosis of the skin.

To establish a true diagnosis, a comprehensive examination of the heart is required using modern high-tech expensive equipment.

Complications

Congenital malformations can be complicated by heart failure, bacterial endocarditis, early prolonged pneumonia against the background of stagnation in the pulmonary circulation, high pulmonary hypertension, syncope (short-term), angina pectoris syndrome and myocardial infarction (most characteristic of aortic stenosis, abnormal discharge of the left coronary artery), shortness of breath - cyanotic attacks.

Prevention

Since the causes of congenital heart defects are still poorly understood, it is difficult to determine the necessary preventive measures that would guarantee the prevention of the development of congenital heart defects. However, parents' concern for their own health can significantly reduce the risk of congenital diseases in a child.

Forecast

With early detection and the possibility of radical treatment, the prognosis is relatively favorable. In the absence of such an opportunity, doubtful or unfavorable.

What can your doctor do?

Treatment of congenital heart disease can be fundamentally divided into surgical (in most cases it is the only radical one) and therapeutic (more often it is auxiliary). Most often, the question of surgical treatment is raised even before the birth of the child, if it concerns "blue defects". Therefore, in such cases, childbirth should take place in maternity hospitals at cardiac surgical hospitals. Therapeutic treatment is necessary if the timing of the operation can be postponed to a later date.

If the question is about "pale malformations", then the treatment will depend on how the defect behaves as the child grows. Most likely, all treatment will be therapeutic.

What can you do?

You need to be extremely careful about your health and the health of your unborn child. Come thoughtfully to the question of procreation. If you know that there are relatives with heart defects in your family or spouse's family, then there is a possibility that a child with heart disease may be born. In order not to miss such moments, a pregnant woman needs to warn her doctor about this, go through everything during pregnancy.

The birth of a small person is a miracle, a priceless gift from nature, which, unfortunately, sometimes makes unfortunate mistakes. Congenital heart disease at first always causes panic in the father and mother, and then there are numerous questions about the future fate of the child.

What is this pathology? The word "congenital" means that the baby was born with a developmental disorder of some organ (in this case, the heart), the deviation from the norm occurred in the period from 2 to 8 weeks of intrauterine development. The word "vice" is usually used as something inevitable, fatal, incompatible with normal existence. However, this situation is unlikely to apply to congenital anomalies of the development of the heart, because today many of them can be corrected, and patients after surgery in most cases can lead a normal life.

The reasons

According to statistics in pediatrics, the frequency of birth of children with CHD is from 6 to 8 for every thousand live births. This number will increase significantly if we add to it a congenital pathology that was not discovered in infancy, but manifested itself many years later. This includes congenital heart defects in adults - significant sagging of the mitral valve cusps, disturbances in the conduction system of the heart, etc.

Almost 25,000 babies are born every year in our country with various heart anomalies. Today, with the advent of the latest technologies and modern equipment, it has become possible to identify some of them much earlier than it was done 10-15 years ago. In most cases, it is not possible to determine the cause of congenital heart defects, however, the following factors can increase the risk of a violation of the normal intrauterine laying of the heart tube:

• transferred viral infections (flu, rubella) in the 1st trimester;
• the presence of obesity in the mother, decompensated diabetes mellitus, phenylketonuria;
• alcohol abuse, tobacco smoking and drug use during pregnancy;
• taking certain medications (anticonvulsants, isotretinoin, ibuprofen);
• the age of the parents;
• systemic connective tissue diseases (lupus) in the mother;
• contact with organic solvents, exposure to ionizing radiation in early pregnancy;
• chromosomal abnormalities (Down syndrome, Shereshevsky-Turner syndrome).

It is always very important for parents to try to establish the cause of the appearance of congenital. Many blame themselves or their relatives for the situation that has arisen. Of course, hereditary predisposition matters. However, no one can know for sure what their genes are responsible for, where, when and in what generation they can show their signs. The probability of having a sick baby is much higher in marriages between cousins, second cousins, as well as in the presence of CHD in a sibling. In general, in congenital heart defects, the etiology still remains completely unexplored.

It is important to understand that parents of a child with CHD should not blame each other, it will be much more important to deal with the consequences and find, with the help of a specialist, the best ways to correct a ridiculous mistake of nature.

Types of vices

All congenital heart defects, according to the classification based on the pathophysiological principle, are divided into types depending on the prevailing hemodynamic disorders in both circulations. In total, more than 140 CHD variants have been described, which occur in the population with different frequencies.

One way or another, the classification of CHD takes into account the prevailing clinical symptoms of defects that are associated with existing anatomical disorders. The features of the discharge of blood between the right and left sides of the heart, as well as into the main vessels, are important. It is also important to have anomalies of the valvular apparatus, aortic and pulmonary trunk. Violations of the process of hemodynamics (blood supply) may be accompanied by the appearance of cyanosis (bluish coloration of certain areas of the skin and mucous membranes) due to a lack of oxygen supply to the tissues.

What types of congenital heart defects are united by the generally accepted classification among doctors:

Clinical manifestations

Signs of congenital heart defects in two-thirds of cases are not noticeable immediately after birth, only in one-third the condition of children shortly after birth can be very difficult. Such children are bluish, they have shortness of breath, they refuse to eat and constantly cry. In most cases, with congenital heart disease, the history of the disease begins much later than the neonatal period. The CHD clinic is multifaceted and is determined by the structural features of the defect, the degree of its compensation by the body and possible complications. During the UPU, 3 phases or periods are distinguished:

1. Adaptation of the body to existing circulatory disorders. Compensation for the defect will last depending on the severity of these violations. With minor congenital heart disease, the symptoms are usually mild, with large defects, an emergency variant of hypertrophic growth of the myocardium occurs, which then easily turns into decompensation.
2. The phase of relative well-being - occurs after about 3 years. This period is characterized by a decrease in the number of subjective complaints, an improvement in the general condition of the child, physical activity and the level of development by age, while increasing. The more fully children compensate for hemodynamic and gas exchange disorders, the clearer the improvement looks.
3. Decompensation is the final stage, characterized by chronic cardiovascular insufficiency, which inevitably occurs after the exhaustion of the body's compensatory capabilities and is accompanied by the development of degenerative-dystrophic processes in the internal organs. Various infections, their complications, concomitant diseases contribute to the onset of this stage.

In the stage of decompensation, children complain of pain in the region of the heart, weakness and lack of air even with minimal physical exertion (walking). Depending on the type of defect, there may be a different degree of cyanosis. Its appearance is usually accompanied by signs of blood clotting - in blood tests there will be signs of polycythemia (an increase in the concentration of red blood cells) and hyperhemoglobinemia (an overestimated hemoglobin level). Signs of chronic heart failure in children with congenital heart disease are a lag in physical development data, constant weakness, pallor and a bluish tint of the skin, swelling in the legs, a change in the shape of the nail plates like watch glasses and phalanges like "drumsticks".

How to Diagnose

Although congenital and acquired heart defects differ in etiology and time of onset of the first symptoms, sometimes it becomes necessary to differentiate them. In the second case, anamnesis data usually come to the rescue (for example, a recent sore throat).

Diagnosis of congenital heart defects begins in the prenatal period, the standards for examining expectant mothers include the fetus after 14 weeks of gestation. If CHD is suspected, the issue of additional examinations is decided. Childbirth is carried out in a medical institution with the possibility of performing the operation immediately or shortly after the birth of the baby.

Correction of fetal heart defects is a promising area of ​​fetal (intrauterine) surgery, developed in the United States and some other countries with highly developed medicine. In our country, some major medical centers carry out similar operations, but not yet in full.

Unfortunately, it is not always possible to detect congenital heart disease before the birth of the baby, the examination of young children includes the following activities:

1. History taking, external examination by a pediatrician or pediatric cardiologist, auscultation (listening to heart sounds and murmurs).
2. ECG (electrocardiogram recording) is a traditional time-tested method that shows which parts of the heart are overloaded and how much, determines the presence of heart rhythm disturbances.
3. Echocardiography - ultrasound examination of the structure and function of the heart and blood vessels is the most informative method, allows you to make an accurate diagnosis at any age of the child and before birth, determines the presence of structural changes, the state of blood flow in the heart chambers and much more.
4. X-ray methods - the location and size of the heart is assessed, as well as the condition of the pulmonary vessels, this is an additional diagnostic method for suspected congenital heart disease.

It is not necessary to use all these methods in order to determine congenital heart disease. In some doubtful cases, invasive interventions may be prescribed to obtain comprehensive information:

1. Cardiac probing - using a special catheter, the pressure in the chambers is measured, blood samples are taken to determine oxygen saturation, contrast is injected to take pictures.
2. Angiocardiography - a study with contrast allows you to get an accurate anatomical picture of not only the cavities of the heart, but also the pulmonary circulation and the main vessels. Used to obtain the most complete information before the operation.

How to treat

The examination allows you to determine the tactics of further management of the patient, while there may be three options:

• urgent operation;
• planned surgical treatment;
• maintenance therapy without surgery.

Currently, the diagnosis of congenital heart disease does not affect the duration and quality of life in any way, provided that the child is provided with qualified medical care, in particular surgical care, in a timely manner.

Surgical treatment of congenital heart defects is carried out when it is impossible to carry out conservative measures to stabilize the patient's condition. Depending on the type of anomaly and the severity of the clinical manifestations, there are three types of operations:

• emergency - they are done immediately after diagnosis, most often in a critical condition of newborns;
• emergency interventions - the child is prepared within a few days;
• elective surgeries are performed at a convenient time for the patient and the doctor, usually between the ages of 3 and 12 years.

Depending on the approach to surgical treatment, operations are divided into 2 types:

1. Radical interventions - the defect is eliminated in full, this can be done with well-formed parts of the heart and the possibility of separating the circles of blood circulation while maintaining normal anatomy.
2. Palliative interventions - are done with complex defects to alleviate the patient's condition. They are used alone or as a preparation for a subsequent radical intervention.

According to the technique of performing the operation, there are:

• open - carried out through an incision in the chest on a working or stopped heart using a heart-lung machine;
• X-ray surgery - catheters with balloons are inserted under X-ray control to expand narrowed areas, create patches in the septa of the heart, etc.

Over time, the child may be operated on again if, as the body grows, the destruction of the artificial valve or prosthesis occurs. In the future, the problem can be solved by materials lined from the inside with the child's own cells. Only patients with severe heart failure (very complex developmental defects, cardiomyopathy, widespread tumor) receive refusals in surgery.

Prevention of congenital heart defects is the planning of pregnancy in the most appropriate period of a woman's life, genetic examination and counseling of couples who already have a sick child, a healthy lifestyle, early vaccination against rubella and influenza, control of sugar in diabetes, taking vitamin complexes as prescribed by a doctor .

a) alcoholism;

b) infection 1-2%;

c) medicines;

d) X-rays.

4. Polygenic multifactorial inheritance.

5. Metabolic disorders such as diabetes, phenylketonuria.

Chromosomal disorders as a cause of congenital heart defects

In 2-3% of cases chromosomal abnormalities are caused single gene mutation. There is a high frequency of chromosomal aberrations in congenital heart defects.

Type of inheritance of congenital heart defects This is a polygenic multifactorial model, the features of which are as follows:

1. The risk of re-lesion increases with an increase in patients among relatives of the 1st degree.

2. In the case when in the general population there are differences in the disease with a pathology of a certain sex, individuals of the opposite sex are affected among relatives.

3. The more severe the heart defect, the higher the risk of its recurrence.

4. The risk of recurrence of the defect in relatives of the 1st degree of the affected individual is approximately the square root of the frequency of pathology in the general population.

congenital heart defects are part of certain syndromes. Most syndromes are characterized by variable expressivity: changes in the heart can vary from mild to severe lesions. This is most pronounced with an interfamily mutation of the gene.

When describing nosological forms of congenital heart defects the most common syndromes will be presented.

Infections as a cause of congenital heart defects

congenital heart defects. resulting from infection, viral intoxication, etc. on the recommendation of an international group of cardiologists, it is called EMBRYOPATHY.

Peak infection should be compared with the time of intensive formation of organs and systems.

Learn more about the effects of infectious factors for fetal heart development and the formation of pathology in newborns will be presented in our next articles.

Drugs and alcohol as a cause of congenital fetal heart defects

Teratogenic on the cardiovascular system have:

ALCOHOL- defects of the interventricular and interatrial septa and an open arterial duct are more often formed. The frequency of occurrence is 25-30%. With alcoholism, the mother develops embryofetal alcohol syndrome in 30%. According to Kramer H. et al. the incidence of congenital heart defects is only 1%.

From drugs The following anticonvulsants have a teratogenic effect. Hydantoin causes the development of pulmonary stenosis, coarctation of the aorta and patent ductus arteriosus. Trimethadoin promotes the formation of transposition of the great vessels, Fallot's tetrad and hypoplasia of the left heart, and lithium preparations - Ebstein's anomalies, tricuspid valve atresia, i.e. have a selective effect on the tricuspid valve.

Medications that may cause occurrence of congenital heart defects. also include amphetamines, progestogens, which cause the formation of complex congenital heart defects.

Oral contraceptives and antihypertensive agents are also considered to be negative factors in the formation of fetal heart pathology.

Metabolic disorders as a cause of fetal congenital heart defects

Screening ultrasound in our vast Russia is currently not possible, so the focus should be on risk groups, when fetal cardiology should be mandatory and repeated.

Copel J.A. et al. identified two groups of risk factors based on 1193 studies, and 74 of them were diagnosed with congenital heart disease.

The first group is the causes associated with the development of the fetus.

Extracardiac fetal anomalies.

According to the results of the Vienna University Clinic combination of congenital heart defects and extracardiac anomalies are observed in 23% of cases.

Chromosomal disorders. of which the most common are 13,18, and 21 trisomy. Their number ranges from 5 to 32% according to Responndek M.L. (1994) the percentage of violations reaches 42.

Fetal heart rhythm disorder in 50% of cases it accompanies congenital heart defects. Such congenital defects as ventricular septal defect (50%), atrioventricular septal defect (80%) occur prenatally with the presence of a complete heart block, i.e. malformations that anatomically affect the pathways of the heart.

The presence of effusion in the abdominal, pleural and pericardial cavities in most cases is a consequence of congenital heart disease.

Intrauterine growth retardation may result from congenital heart disease. The combination frequency percentage has not been established. This is most often observed with a symmetrical form of intrauterine growth retardation.

Presence of non-reactive stress during antenatal testing.

The second risk group is directly related to the parents.

These include:

Maternal congenital heart defects. A comprehensive study conducted at the Department of Obstetrics and Gynecology of the Moscow State Medical University named after I.M. Sechenov showed that the incidence of pathology in this group of pregnant women is 2.1. The presence of an infection. Exchange diseases. Congenital heart disease in the father. The impact of drugs. The use of strong coffee more than 8 g per day also increases the risk of having a child with congenital heart disease and cleft palate.

At the Institute of Preventive Cardiology of the Medical College in Colorado, Nora J. et Nora A. developed criteria for the formation of pathology of certain structures of the heart, depending on the period of exposure to exogenous or endogenous factors.

congenital heart defects

FREQUENCY AND NATURAL FLOW

The causes of CHD are not entirely clear. It is only known that the period of laying and formation of heart structures (2-7 weeks of pregnancy) is the most vulnerable moment for a number of adverse effects. These include congenital and acquired diseases of the mother, father and fetus, as well as teratogenic environmental factors. Naturally, these influences can be combined. The most important are hereditary diseases (chromosomal abnormalities and deletions, fresh mutations), infectious diseases (primarily viral), chronic metabolic disorders, hormonal disorders, alcoholism and drug use.

According to the literature, the incidence of CHD in the population varies widely from 2.4 to 14.15 per 1000 newborns. Taking into account intrauterine fetal deaths or early miscarriages, the proportion of CHD among all malformations can reach 39.5% (7.3% on average). Fluctuations in this indicator are determined mainly by the gestational age (the shorter the period, the more often CHD is present). Most fetuses die by the end of pregnancy due to concomitant chromosomal diseases and developmental anomalies. This is clearly seen when comparing the frequency of chromosomal defects among spontaneous abortions (39.9%), among stillborns (4.5%) and live births (0.71%). Mostly CHD remain, rarely combined with chromosomal abnormalities (TMA, pulmonary stenosis, aortic stenosis). Their frequency in the postnatal period is higher than among dead fetuses (Table 26-3).

Corrected TMA

Practical healthcare focuses on the incidence of congenital heart disease in live births. In this group, the frequency of heart lesions ranges from 0.6 to 1.2% and tends to rise. The reasons for this increase can be associated with both improved diagnosis and registration of anomalies, and with a true increase in heart pathology in the population.

If you do not provide assistance for congenital heart disease, the total mortality reaches an extremely high level. By the end of the 1st week, 29% of newborns die, by 1 month - 42%, by 1 year - 87% of children. The average term of death of most patients is 59±43 days. At the same time, modern therapeutic treatment, operations and transluminal balloon procedures can save the lives of more than 80% of children.

Therefore, timely detection and determination of the nature of pathology is considered one of the most important tasks in primary diagnosis.

The tasks of a doctor who first suspected congenital heart disease in a fetus or newborn include

establish symptoms confirming the presence of CHD, including using instrumental research methods;

to carry out differential diagnostics with other diseases that give a clinical picture similar to congenital heart disease;

determine the indications for an urgent consultation of a specialist (pediatric cardiologist, cardiac surgeon, geneticist, etc.);

prescribe primary pathogenetic therapy to stabilize the child's condition and prepare for transfer to the cardiology or cardiac surgery department.

birth defects

Congenital malformations - abnormal intrauterine development of the fetus, which can lead to severe impairment of the health of the unborn child, often becomes known already at birth, but sometimes manifests itself later, not making itself felt until adulthood

Congenital malformations of the fetus

Congenital malformations of the fetus- anatomical abnormalities in the development of the fetus, one of the most severe complications of pregnancy. Physical anomalies occur in 4% of newborns, and some of them are not detected immediately, but only after a few years. Individual congenital malformations are diagnosed when the child reaches the age of five and even later.

Causes of anomalies and malformations

The exact causes of abnormal fetal development often remain unknown - in more than half of the cases, doctors cannot say what caused the congenital anomaly. This is not surprising if we take into account the complexity of the process of the birth of a new life, a large number of factors influencing this process. However, circumstances that increase the risk of pathology are well known. Some of these circumstances are removable, others are not. Therefore, even an absolutely healthy woman who has followed a diet and rest regimen can have a baby with a developmental defect.

One of the possible reasons for the appearance of anomalies can be genetic factors. The genome of each person contains recessive forms of the gene - alleles that can, under certain circumstances, cause the death of the organism. Usually there is a choice of the most viable combinations of genetic traits, but this does not mean that alleles that carry physical anomalies cannot appear. Therefore, closely related marriages increase the risk of children with congenital defects, and closed ethnic groups in which people are forced to marry among themselves are gradually degenerating. Constant combinations of the same genetic material lead to the fact that recessive alleles are "chosen" more and more often.

The basis of genetically determined malformations may also be a mutation - a distortion of hereditary properties due to changes in chromosomes or genes. Diseases caused by chromosome mutations are called chromosomal diseases, while hereditary diseases usually mean those caused by gene mutations. But not everything is to blame for heredity, there are other factors that can lead to congenital anomalies:

• Socio-economic factors. In countries with limited resources, the percentage of children with birth defects is much higher than in rich regions of the planet. The reason lies in the fact that the mother's living conditions directly affect the baby she carries. Poor sanitary conditions, infections, malnutrition, lack of essential vitamins and minerals in the diet - all this leads to the development of defects in the unborn child.
• Environmental factors. The environment, influencing the mother, can also affect the baby. Exposure to pesticides and other chemicals, high background radiation adversely affect pregnancy. Living near a large steel industry, landfill or mine are all risk factors.
• Physiological factors. This group, in fact, includes not only illnesses and injuries of the mother, but also her bad habits: smoking, alcohol abuse, use of psychotropic substances during pregnancy. Not only the most obvious “vices” can be attributed to bad habits. Strict diets that deprive the body of vitamins and other nutrients can also be fraught with abnormal development of the fetus, as well as endocrine diseases. Injuries to the mother during pregnancy are no less dangerous.

Classification of birth defects

• Structural malformations - defects that are expressed in the abnormal development or absence of any part of the body.
• metabolic- associated with hormonal imbalances. This category of defects can be deadly, since the congenital absence of any enzyme can cause severe abnormalities in the functioning of the nervous system.
• infectious- anomalies caused by infection in the mother's body. Infection of a pregnant woman with rubella, toxoplasmosis, syphilis and other diseases can be a fatal circumstance for a baby. This is one of the reasons why people who have had syphilis should not have children for 5 years after recovery.

Prevention of congenital malformations

Prevention of congenital malformations is to eliminate those risk factors that can be eliminated. The expectant mother should eat well, her diet should contain enough vitamins, minerals, iodine and folic acid. It is also necessary to give up bad habits: smoking, drinking alcohol.

Diabetes mellitus increases the risk of having a child with developmental anomalies, so you should take care of proper medical care during pregnancy, insulin administration, and proper nutrition. Attention should be paid to the fight against excess weight, which often accompanies diabetes.

An important place in the prevention of malformations is occupied by timely vaccination. Some illnesses can have very serious consequences for a child. For example, a mother who is not immune to rubella would be better off getting vaccinated. It is necessary to try to avoid adverse environmental conditions, to limit the use of drugs as much as possible. The abuse of medications can also adversely affect the development of the fetus.

What are intrauterine malformations?

• Organ agenesis(lung, kidney unilateral or bilateral) - underdevelopment or complete absence of organs
• Acrania- lack of cranial vault
• Albinism- lack of melanin (skin pigment that gives the skin a bronze tint, hair - a dark color)
• Anencephaly- underdevelopment of the cerebral cortex
• Anus atresia , esophageal atresia , jejunal atresia- intrauterine defects, in which these organs end blindly, in a dead end, without further communication
• Down's disease(Down syndrome) - a developmental defect associated with one extra chromosome (three instead of two chromosomes of 21 pairs).
• Hirschsprung disease(Congenital megacolon) - due to a violation of the innervation of the large intestine, the child suffers from chronic persistent constipation, bloated abdomen.
• Cleft palate- an open upper palate, in which the oral cavity communicates with the nose, and the split upper lip is connected to the nostrils. When the palate is overgrown, but there is a defect in the lip, the defect is called cleft lip.
• congenital heart defects- various options for non-closure of septa or valve insufficiency during fetal development - see the section "Congenital heart defects" below.
• Hydrocephalus- excessive accumulation of intracranial fluid, resulting in a disproportionately large head
• Meckel's diverticulum- an appendix-like process in the small intestine, can become inflamed, giving a clinical picture of appendicitis.
• hip dysplasia(congenital dislocation of the hip) - impaired development of the joint, subluxation or dislocation, occurs in 2-3% of newborns.
• hare lip- defect of the upper lip, nonunion of the upper lip. A more severe defect is the cleft palate, in which the tissues of the palate also do not grow.
• Clubfoot- inverted feet, most often inside
• cryptorchidism- non-descension of the testicle of their abdominal cavity into the scrotum.
• Megacolon- violation of the innervation (nerve endings) of the colon, leading to chronic constipation. A type of megacolon is Hirschsprung's disease.
• Microcephaly- underdevelopment of the head and brain.
• Omphalocele(umbilical hernia) is a common defect that can be surgically treated.
• Polydactyly- the development of more than five fingers on a hand or foot is inherited.
• Polythelia- additional nipples, which are often mistaken for moles.
• syndactyly- spliced, unseparated fingers
• Klinefelter syndrome- 1 boy out of 500 suffers. Due to the extra X chromosome, a number of signs appear: violation of body proportions, large breasts, infertility, decreased potency.
• Klippel-Feil syndrome- a short neck, the border of the hair runs low, the rotation of the head, its mobility are reduced.
• crying cat syndrome- a rare disease due to the loss of a short arm or a fragment of the 5th chromosome.
• Patau Syndrome- additional 13th chromosome. A severe vice, children die before they reach a few years of age.
• Shereshevsky-Turner syndrome- the absence of one sex chromosome. Infertility, disorders of other organs and appearance.
• Edwards syndrome- trisomy 13 chromosomes, children die before the year.
• fibrodysplasia- progressive ossification of soft tissues - their transformation into bones.
• fetal alcohol syndrome- mental retardation and deformities of newborns due to alcohol intake by the mother during pregnancy
• Cyclopia- full or partial fusion of the eyeballs in one eye. The newborn is not viable and dies in the first days of life. Very rare deformity - 1 in a million.
• Bladder exstrophy- the location of the bladder outside, the absence of its anterior wall. Treatment is surgical.
• Ectrodactyly- Absence or underdevelopment of individual fingers or toes.
• epispadias- splitting of the anterior wall of the urethra.

congenital heart defects

Congenital heart defects are a relatively common variant of intrauterine developmental defects. Below is a list of the main cardiac pathologies of intrauterine development:

• Tricuspid valve atresia
• Ebstein anomaly
• Ventricular septal defect
• atrial septal defect
• Coarctation of the aorta
• Open ductus arteriosus
• Acquired heart defects
• Tetralogy of Fallot
• Transposition of the great vessels

Treatment of birth defects

Some birth defects can be corrected with surgery in early childhood. Congenital heart disease can be treated - its presence can be established even before the baby is born. The only way to cure heart disease is surgery, which is performed on an emergency or planned basis. The same can be said about most malformations of the gastrointestinal tract: they are not a sentence for the baby, competent treatment can give the child health. A congenital defect such as a cleft lip can also be corrected, but this requires a whole series of plastic surgeries. Even genetically determined anomalies can be corrected. Although there is no cure for Down Syndrome, the physical defects associated with the disease can be treated.