Congenital heart disease: treatment and diagnosis of causes, symptoms in Moscow

Congenital heart defects (CHD) are developmental anomalies that lead to disruption of the morphological structure of the heart, including the valve apparatus and great vessels.

CHDs occur during the period of intrauterine development (usually at 2-8 weeks) as a result of disruption of embryogenesis processes. These anomalies can occur either alone or in combination with each other.

The overall prevalence of this group of diseases is up to 5-8 cases per 1000 births. Congenital defects can be associated with chromosomal abnormalities, however, non-chromosomal congenital heart defects are often diagnosed.

The overall incidence of non-chromosomal congenital heart disease is up to 7 cases per 1000 births, of which up to 3.5% are perinatal losses, 20% are diagnosed prenatally, 5.6% of pregnancies are terminated due to a detected fetal anomaly. Complex non-chromosomal heart defects are less common, approximately 2 cases per 1000 births. The outcome in 8% of cases is perinatal death, 40% are diagnosed in utero, and 14% cause termination of pregnancy.

general description

Congenital heart defects (heart defects) are an abnormal structure of the heart chambers, large vessels or valves (combinations are not uncommon) due to genetic predisposition, intrauterine development disorders, infectious, autoimmune, metabolic and other diseases, injuries received by the mother during pregnancy.
Valve lesions can be congenital (due to disorders of intrauterine development) or acquired, that is, occurring during life under the influence of diseases, infections or injuries. In most cases, complex congenital defects require surgical correction in both children and adults.

Methods for diagnosing congenital heart disease

Diagnosis of congenital heart disease is based on collecting medical history data (presence of developmental defects, including congenital heart defects, genetic diseases in close relatives; information about pregnancy and the presence of etiological factors in parents).

When collecting complaints, attention is paid to the child’s developmental delay, poor weight gain, poor appetite, sluggish sucking from the breast or bottle, breast refusal, cyanosis, and frequent respiratory infections.

Physical examination

During a physical examination, pay attention to the color of the skin, determine pulse and blood pressure (on the right arm and either leg), perform auscultation of the heart and lungs, pay attention to the presence of peripheral edema, perform pulse oximetry, and determine diuresis.

Instrumental diagnostics

However, the leading role in the diagnosis and confirmation, differential diagnosis of congenital heart disease is played by instrumental examination methods: x-ray examination of the chest organs, electrocardiography, echocardiography, MRI, CT, catheterization of the cardiac cavities.

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What are the types of congenital heart defects?

pulmonary valve stenosis
stenosis of the aortic valve, aortic orifice, subvalvular stenosis;
mitral stenosis - narrowing of the bicuspid atrioventricular valve;
Mitral valve insufficiency - incomplete closure of the bicuspid atrioventricular valve;
Mitral valve prolapse - excessive length of one or two valve leaflets;
aortic valve insufficiency;
tricuspid stenosis;
triscupidal insufficiency;
defects of the interatrial and interventricular septum;
anomalies in the development of heart cavities: Ebstein's anomaly, single atrium, single ventricle;
transposition of large vessels - aorta and pulmonary artery;
tetralogy of Fallot;
open arterial (Botallov) duct;
coarctation of the aorta;
The most common congenital heart defect is an abnormal communication between the atria—atrial septal defect.

Treatment for the diagnosis of congenital heart disease in newborns

Treatment methods depend on the type of heart defect:

Minimally invasive procedures
Radical surgery
Heart transplant
Drug therapy
Long-term therapy

If the heart defects are not very serious, minimally invasive procedures can be used. Their essence is that a thin catheter is inserted into the heart through the femoral vein, and the necessary instruments are delivered to the defect inside the catheter.

The most radical but effective method of treating congenital heart disease is surgery. This is a traditional open intervention with opening of the chest and the heart itself. Most of these operations are performed using a heart-lung machine. After heart surgery, a child faces a long and difficult recovery period, but sometimes it is the only possible way to cure.

Heart transplantation is used in the most severe cases, in which traditional surgery is helpless in case of severe congenital heart disease.

Drug therapy is used mainly for auxiliary purposes, improving the functioning of the heart and blood flow.

Long-term therapy involves several consecutive operations on congenital heart disease.

Diagnosis and treatment of heart disease

Cardiac surgeons can recognize and eliminate the defect in a timely manner. In most cases, x-ray surgeons close the defect using catheter technology without resorting to an incision.

A defect may appear between the ventricles of the heart - a ventricular septal defect.
Often the defects are combined with anomalies of the valvular apparatus of the heart or large vessels.
The valvular apparatus of the heart consists of four valves: mitral (bicuspid), tricuspid (three-cuspid), aortic and pulmonary valve. The functioning of the heart depends on the coordinated and correct functioning of these structures.
There are two main types of valve disease: valve insufficiency and stenosis.
When there is insufficiency, the valve leaflets do not close completely, leaving a gap through which blood is thrown in the opposite direction to the normal direction. And with stenosis, the valves do not open completely, preventing normal blood flow. Isolated lesions of the heart valves are relatively rare; they are very often observed in other congenital heart defects. For example, a bicuspid acortical valve is often found in people with a patent ductus arteriosus. With this defect, part of the blood (rich in oxygen) from the aorta, which is not closed after the birth of the child, enters the pulmonary artery, causing an overload of the right side of the heart. In children and adolescents, such an abnormal message is most often eliminated without surgery, by installing a “plug” through the catheter.
Read also: Instructions for use of HALOPERIDOLUM
Another congenital malformation is stenosis of the descending aorta.
In the thoracic segment, the aorta is attached to the posterior wall, closer to the spine. At this point, the aorta is sometimes significantly narrowed, and the internal organs do not receive enough arterial blood. Previously, this condition, called coarctation of the aorta, could only be corrected with surgery. But today, in most cases, narrowing during coractation of the aorta is eliminated by balloon dilation and installation of a stent frame. It should be emphasized that if valve stenosis is an isolated lesion, it is often eliminated by balloon expansion, in a minimally traumatic way.

Diagnosis of congenital heart disease in newborns

Naturally, the earlier a congenital heart defect in newborns is detected and timely treatment begins, the more favorable the prognosis. However, due to the absence of clearly defined symptoms and, accordingly, no treatment at all, there are cases of death among children under 1 year of age (occasionally even older).

Usually, during preventive examinations, the doctor must listen to the baby’s heart. If murmurs are heard there, this is a reason for a detailed examination of the heart (although not necessarily a symptom of congenital heart disease).

For this purpose, parents and children are referred to specialists with a narrower profile - a cardiologist and a cardiac surgeon.

If you suspect a heart defect, the baby’s parents do not need to immediately turn to Internet search engines with the request “congenital heart defect surgery.” Not all defects require radical surgical intervention. And the main thing is to first establish the correct diagnosis.

Changes characteristic of congenital heart disease in a newborn are revealed by the following research methods:

X-ray of the chest (as well as ventriculography - x-ray with contrast injection).
Echocardiography (using ultrasound to examine the condition of the heart muscle, valves, blood flow in the heart cavities).
Electrocardiogram – ECG (or methods based on it: stress ECG (treadmill test, bicycle ergometry), ECG Holter monitoring).

If the above examination methods reveal the presence of a serious disease - congenital heart disease, then further diagnostics are carried out in the cardiac surgery department on an inpatient basis. Surgeons, if necessary, conduct examinations using procedures such as angiocardiography and probing of the heart chambers.

Modern high-tech medical equipment allows you to conduct a full comprehensive examination of the heart and blood vessels in order to establish the most accurate diagnosis and choose the necessary treatment tactics.

How do heart valve diseases manifest?

Most often, patient complaints are nonspecific: shortness of breath, rapid pulse, arrhythmia, fatigue, cyanosis, dizziness.

The severity and nature of symptoms depend on the location of the affected valve. With valve defects of the left half of the heart (mitral and aortic), the lungs are primarily affected, because Blood stagnates in their vessels, which manifests itself as shortness of breath. There are also signs of insufficient blood supply to all organs and systems, primarily the brain and the heart itself. Dizziness, fainting, and angina occur. If the functioning of the valves of the right half of the heart (tricuspid and pulmonary valves) is disrupted, blood stagnates in the vessels of the systemic circulation, i.e. all organs except the lungs are affected. Swelling of the legs and feet, ascites (fluid in the abdominal cavity), enlargement of the liver, etc. develop (LIVER INCREASES, ETC.).

Heart valve defects are dangerous due to their complications and impact on the body, so the main prevention of pathological conditions is regular examinations and treatment of diseases leading to the formation of valve defects.

Symptoms of congenital heart disease

They are divided into two large groups according to the color of the child’s skin: “white” and “blue”. A changed skin tone is the first reason for parents and pediatricians to be wary.

"Blue" vices

They usually appear either immediately at birth or a little later. In this case, the ears, lips and body skin are susceptible to cyanosis. Blue discoloration can occur during exertion (screaming, crying of a newborn), during breastfeeding. The “blue” appearance is usually manifested by a mirror arrangement of the great vessels, atresia of the pulmonary artery, and tetralogy of Fallot.

CHD of the “white” variety

Accompanied by pallor and coldness of the extremities. When listening with a stethoscope, noises are heard. They are not direct symptoms, but a heart examination is still required. With “white” pathologies, heart failure is often detected. Changes are detected on x-rays, ECG, ECHO-CG. This type of congenital heart disease is most often a pathology of the interatrial septum and interventricular septum.

Unfortunately, not all types of congenital heart disease occur in newborns. A child can feel well even up to 10 years of age. But sooner or later the vice will appear:

delay in physiological development;
pallor or cyanosis;
shortness of breath during exercise.

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2. Symptoms of the disease

Sometimes it happens that the symptoms of heart disease do not appear at all and the disease does not cause any concern. Or, for example, symptoms of the disease appear only in adulthood. As a rule, symptoms of heart disease in adults are expressed in the following forms:

Dyspnea;
Labored breathing;
Rapid fatigue, fatigue;
Inability to perform activities associated with heavy physical exertion;
Headache;
Dizziness;
Pain in the heart, abdominal area.

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Treatment methods

Treatment of congenital heart disease is carried out only by surgery . Cardiac surgeons perform complex reconstructive interventions, successfully curing those forms of congenital heart disease that were previously considered inoperable. If the diagnosis is made early and treatment is carried out promptly, heart function can be restored to 100%.

Non-invasive therapy (medication, physiotherapy, etc.) may be prescribed as an auxiliary measure. Such treatment is also carried out in cases where it is possible to postpone the operation to a later time or there is a “white” congenital heart disease that has little impact on the child’s well-being during growth and development.

No more sentence! Congenital heart defects in children: identify and treat

Perhaps there will always be diseases about the methods of treatment of which one could say something like “If only such diagnosis and treatment existed... years ago.”

This phrase is also true in relation to our topic today. With Candidate of Medical Sciences, pediatric cardiologist at Clinic Expert Smolensk Tatyana Mikhailovna Frolova, we are talking about congenital heart defects.

— Tatyana Mikhailovna, what is congenital heart disease? Is this a separate disease or a group of diseases?

This is a whole group of pathologies - congenital defects in the structure of the heart and large vessels, as well as anomalies in the location of the heart in the chest. These defects disrupt blood flow inside the heart and in large vessels and can lead to the development of heart failure, disability, and in some cases, the death of the child.

Today there are more than 35 types of congenital heart defects

Today there are more than 35 types of such defects.

— Do babies with congenital heart disease always look different from their healthy peers? Or can a heart defect in a child be asymptomatic?

The latter is true. Along with very severe defects, there are also those that are not accompanied by obvious clinical manifestations. Such children may be no different from their peers. It has become possible to identify these defects thanks to the improvement of methods for studying the cardiovascular system. They are often diagnosed accidentally.

— How is it usually discovered that a child has a heart defect?

Modern ultrasound machines make it possible to detect or suspect the presence of fetal heart defects even in the prenatal period.

After birth, a child also undergoes an ultrasound examination of the heart in the first year of life.

“An ultrasound is definitely not enough. The examination must be comprehensive." Quote from the material “Ultrasound of the heart: when is it prescribed and what will it show?”

It is possible that a defect may be accidentally discovered during examination for other reasons (medical examinations, obtaining certificates for sports activities, etc.).

And, finally, situations when a child develops some symptoms or changes are detected on the ECG, which becomes a reason to deepen the diagnostic search and conduct echocardiography.

“What are the types of heart murmurs? Where do they come from? And what to do if such noise is detected? Quote from the material “Heart murmurs in a child: looking for reasons”

— Should a cardiac examination of a baby be carried out only when indicated, or should all newborns undergo special diagnostics to exclude congenital heart defects and other cardiovascular pathologies?

According to the order of the Ministry of Health, ultrasound screening (echocardiography) is mandatory at the end of the neonatal period (the first month of extrauterine life), i.e. when the baby is one month old, during a routine medical examination. All children under one year of age must undergo such a study along with an ECG.

Of course, if a child has any manifestations of trouble, they do not wait for any special time, but consult a doctor immediately.

— How many children in Russia and the world are born with congenital heart defects?

According to statistics, congenital heart defects are considered a fairly common pathology. Their frequency in our country is 8 children per 1000, or 1 per 125 live births. The true incidence is higher if we take into account cases of early stillbirths and cases of spontaneous abortions.

In European countries this figure ranges from 3 to 8 per 1000 children. The highest frequency is in third world countries, in Asian countries.

- Why is a child’s heart so vulnerable? Are heredity and ecology to blame, or are there other reasons for the development of congenital heart defects in babies?

Approximately 90% of heart defects are multifactorial in nature. In other words, the combined influence of both hereditary and environmental factors plays a role in their occurrence.

8% of defects are caused by chromosome abnormalities and “breakdowns” of individual genes.

In our country, 8 children out of 1000 are born with congenital heart defects

2% is due solely to environmental factors that increase the risk of congenital heart defects. These may be physical, chemical factors, hazardous production, or unfavorable environmental conditions.

In addition, the formation of the defect can be facilitated by maternal diseases (in particular, endocrine; infectious pathologies during pregnancy), taking certain medications, smoking, and drinking alcohol by the mother.

— Modern diagnostics make it possible to identify congenital heart defects at the stage of intrauterine development?

Yes, but not in all cases.

— Before birth, can any heart defects in the fetus be detected with 100% accuracy, or is the development of perinatal diagnostics imperfect today?

As I said earlier, reliable diagnosis is not always possible. The success of detecting a defect is influenced by the position of the fetus, its mobility during the examination, the qualifications and experience of the doctor, the class of the apparatus for performing ultrasound, and the severity of circulatory disorders.

Some anatomical features of the heart, such as a patent ductus arteriosus, are normal in the prenatal period and become a defect only if they persist for a long time after birth. In these cases, dynamic monitoring of the child comes first.

Why are pregnant women prescribed MRI? Read here

— Tatyana Mikhailovna, if a fetus is diagnosed with a heart defect, is this an indication for termination of pregnancy or is the decision made individually in each case?

Today this is not a reason to terminate a pregnancy. In Russia, individual operations for intrauterine correction of heart defects have already begun. If there are no indications for surgical treatment during pregnancy, then after the birth of the child and consultation with a cardiac surgeon, the necessary operation is performed either immediately or later.

— Previously, the diagnosis of “congenital heart disease” almost always sounded like a death sentence. Has the situation changed now?

Over the past 10-15 years - dramatically. What has changed? The detection of defects in the prenatal period has improved significantly. Defects began to be diagnosed that do not require urgent surgical intervention and that can be eliminated on their own as the child grows older. If there is a question about surgery, then, if necessary, it can be performed even on the first day after the birth of the child.

“Holter monitoring is also used to examine children.” Quote from the material “Holter (24-hour) ECG monitoring - complete instructions for the patient”

— If a baby is diagnosed with a heart defect after birth, is this always an indication for surgery?

No. All heart defects require dynamic monitoring, since their spontaneous closure is possible, reducing the severity of circulatory disorders, as a result of which there is no need for surgical treatment. With some defects, the child can even engage in certain sports if there are no significant circulatory disorders.

— If necessary, can surgeries in Smolensk help a baby with a congenital heart defect, or are such children sent to large Russian cardiology centers?

Heart surgeries are high-tech and highly specialized medical care. They are performed only in large specialized clinics.

If necessary, the operation can be performed even on the first day after the birth of the child.

Smolensk patients can undergo surgery in Moscow or St. Petersburg, if we talk about regional proximity. In our city, unfortunately, such operations are not carried out.

— It is generally accepted that prevention can save you from many health problems. Is it possible to reduce the risk of having a child with a heart defect?

Yes. It is extremely important to remember the periods of heart development here. Its formation begins at the end of the 2nd week of pregnancy. By the 4th week, a two-chamber heart is formed, and by the 6th week the chambers separate to form a four-chambered heart.

Just thinking about these numbers is enough. Does every woman at two weeks (and even later) know about her pregnancy? No, whereas at this time the heart is laid and formed. If during this period there are unfavorable factors that we talked about earlier, the risk of developing a defect increases. Therefore, the most important prevention is planning and preparation for pregnancy. A woman must be healthy, she needs to lead an appropriate lifestyle.

Pregnant women need to undergo regular screenings, during which some abnormalities in the development of the heart in the fetus may be detected. When they are detected, the question of the method of delivery is decided.