In recent years, the growing interest of scientists has been attracted by small developmental pathologies (MAPs) and their permissible differential diagnostic value in various diseases. According to the judgment of G.I. Lazyuk, Mehes et al., Developmental pathologies are classified as small developmental anomalies that do not lead to impaired organ function and are not considered significant cosmetic defects. Nevertheless, up to these times, there is no general view in academic literature about which structural variants themselves should be considered as small developmental anomalies. In ICD-10, a small anomaly in heart development in children is listed under the code Q20.9. ICD-10 is the International Classification of Diseases of the 10th revision, developed by WHO and is a generally accepted classification for coding medical diagnoses.
Causes
Some genetic diseases or disorders, such as Down syndrome, are associated with congenital heart defects. Some substances or diseases that a pregnant woman exposes can lead to congenital heart disease in her unborn baby. This includes prescription drugs, rubella, and diabetes.
Symptoms
Common symptoms of congenital heart defects in adults include:
- Shortness of breath, especially during exercise.
- Fatigue.
- Cyanosis (blue tint of the lips, skin or nails caused by a lack of oxygen).
- Heart murmur.
- Abnormal heart rhythms (arrhythmias).
- Swelling of the extremities.
Many of these symptoms can be confused with the symptoms of other diseases that affect the heart, lungs, as well as less serious diseases, with the effects of aging and physical inactivity.
Diagnostics
Tests commonly used to diagnose a small abnormality of the heart (according to ICD-10, the disease is assigned code Q20.9), include:
- Echocardiogram: to determine the anatomical structure of the heart, as well as the volume of blood pumped by the heart, and pressure within the heart.
- Electrocardiogram: Identify heart rhythm problems.
- Chest x-ray: look at the size and shape of the heart.
- Coronary catheterization: detection of blocked or restricted blood vessels.
- Magnetic resonance imaging (MRI): detailed images of the chambers of the heart and blood vessels.
- Stress test (exercise): To measure how well the heart functions when it has to work harder than usual.
Treatment
In the treatment of congenital heart disease, depending on the type and severity of the defect, a number of approaches can be applied. The main points of treatment for the disease should be highlighted.
Observation
Some minor congenital heart defects found in adults never need treatment or adjustment. However, these patients should undergo a cardiac examination regularly to ensure that the defect does not worsen over time.
Medications
Some minor congenital heart defects can be treated with medications to help the heart work better. These include:
- Beta blockers for a slow heartbeat.
- Calcium channel blockers can help relax blood vessels.
- Warfarin will help prevent blood clots.
- Diuretics will remove excess fluid in the body.
Not all medicines work for all types of congenital heart defects. Some drugs that help with one type of defect can worsen the condition with others. Many patients with congenital heart disease have a risk of heart inflammation (endocarditis), even if their defect has been eliminated.
Surgery, catheter intervention
Some congenital malformations, for example, an open oval window with a small abnormality of the heart, found during adulthood, need to be corrected surgically. For many of them, surgery can be performed through a catheter - a tube that passes through a blood vessel to the heart. Catheter techniques can be used to repair minor defects of the septum and some defective valves. Catheter techniques are also used in balloon angioplasty or to place a stent to open a blood vessel or valve. Some minor treatment adjustments made in childhood can also be performed using a catheter.
Valve replacement and restoration of more complex congenital heart defects, namely, correction of an additional chord with a small anomaly in heart development, can be performed using open heart surgery.
Although rare, a patient with a life-threatening congenital heart disease may receive a heart transplant or a heart and lung transplant. These procedures are performed only in patients who are healthy enough to undergo a major operation.
Small abnormalities in the development of the heart in children
About one in 100 babies is born with a heart defect. This is called a congenital heart disease. Some defects are mild and do not cause significant impairment of heart function. However, more than half of all children with congenital heart disease have a condition that is serious enough to require treatment. Classes in the preparatory health group with a small anomaly in the development of the heart are assigned to all children who suffer from such a pathology.
How the heart works
The heart is a double pump consisting of four chambers. Its role is to provide the body with oxygen. The heart receives blood through several stages.
Heart defects can develop in the uterus. If the heart and blood vessels cannot grow normally during fetal development, this can cause:
- Blockages that interfere with blood circulation around the organ and arteries.
- Underdeveloped parts of the heart itself.
Acquired Heart Disease
Diseases that can lead to a heart problem include myocarditis (inflammation of the heart muscle), cardiomyopathy (heart muscle disease), rheumatic heart disease (the disease that can follow streptococcal bacterial infection), and Kawasaki disease (fever, rash, and swollen lymph nodes) glands that can affect the heart). They are called acquired heart disease.
Some children with a genetic condition, called Noonan syndrome, may also have abnormalities in the development of cardiac septa.
Causes of defects
In approximately eight out of 10 cases, the cause of congenital malformations of the heart is unknown. Some of the known causes are as follows:
- Genes - 20% of cases have a genetic cause.
- Other birth defects - A child who has certain birth defects, such as Down syndrome, is more likely to have a heart disease.
- Maternal illness - A maternal illness during pregnancy (e.g. rubella) may increase the risk of congenital heart defects.
- Medications (over-the-counter or prescription) or illegal drugs taken by the mother during pregnancy can increase the risk of congenital heart defects.
- Alcohol - A mother who drinks a lot of alcohol during pregnancy can increase the risk of congenital heart defects.
- Maternal health. Factors such as uncontrolled diabetes and poor nutrition during pregnancy can increase your risk.
- Maternal age - children of old-born women are more likely to have a birth defect than children of young women.
Almost one in every 100 children is born with some form of congenital heart disease (CHD). In the 1950s, only about 15% of these children with severe heart defects reached the age of 18. Today, with advances in treatment and surgery, almost 90% of patients with coronary artery disease reach maturity. This remarkable achievement, in turn, poses new challenges in the form of an ever-growing population of adults with congenital heart disease (CHD). Many of the young patients need constant monitoring throughout their lives and will require a kind of re-intervention to maintain cardiac function.
A wide range of malformations can lead to an equally wide range of medical consequences. While some patients may experience heart failure, which can be controlled with medication, other cases may eventually require transplantation. Some patients primarily experience heart rhythm problems (arrhythmias). Still others receive excess blood flow to the lungs, and eventually pulmonary hypertension develops. Those with heart valve problems or defects in the aorta require corrective surgery.
“The treatment of congenital heart defects is indeed associated with clinical cardiology, and each patient is different - even within the diagnosis there is a lot of variability in how you treat individual patients,” Dr. Bouchesn explained. “Great success has been achieved in surgical methods, anesthesia, non-surgical interventions and imaging,” he continued, “which led to significantly improved results observed in children with coronary artery disease and a steady increase in the number of adults living with CHD.”
“The problem with coronary heart disease is that no one understood how to prevent it. Genetics is complex and incomprehensible, and the incidence does not change, ”said Dr. Bouchesn.
The presence of a genetic component is assumed, since a parent with CHD increases the risk of having a child with a heart defect from less than one percent to three to six percent. But genetic factors in the development of the disease remain a mystery. Maintaining the health of people with congenital heart defects in the long run can be challenging.
The first obstacle is the transfer of patients from the pediatric institution, where they still received all the necessary help, to the adult clinic in the new hospital. “When they move to a new location, the level of exhaustion is quite high,” said Joanne Morin, a best practice nurse in an adult clinic with congenital heart disease.
“The problem with the transition of patients with coronary artery disease,” explains Maureen, “is that they often feel completely healthy, which may cause them to refuse regular follow-up care. We are trying to impress them that, although they feel great, and now everything is fine, in the future this may not be so. We can see changes in the test results, and we inform patients about all the deviations in their examinations. Our goal is to prevent the progression of the disease. We don’t want people to appear on our doorstep when it’s too late, ”she emphasized.
“One of the key points for patients is that there are effective treatments in medicine, but full recovery is not always possible,” said Dr. Bouchescen. - If you have appendicitis, then they will operate on you, and everything will be fixed. This is how people tend to think about surgery. But in the case of UPU, the situation is different. A number of patients will have problems, and people need to understand this. ”
The chronic nature of the treatment does suggest that the clinic will observe its patients for a long period of time, but this is often difficult. “Our patients are mostly young, and they move a lot - their addresses and phone numbers change. Young women get married and change their names. It’s very important to keep in close contact with people with CHD, ”said Maureen.
About one quarter of patients with congenital heart defects have obvious limitations on their physical activity, with 5-10% having serious limitations. Some people should not engage in activities that have a negative effect on the work of the heart.
Most of the work of cardiologists with people diagnosed with CHD is advising young patients on topics such as participating in sports or choosing safer work. Problems with cosmetic defects of the body are not uncommon, especially for patients with significant surgical scars.
Pregnancy is another problem. Some types of CHD, even if they are successfully eliminated, can make pregnancy dangerous for women - the heart experiences an increase of 30-50% of the workload. The task of cardiologists is to help a woman with heart disease to endure and give birth to a healthy child. Sometimes during pregnancy it turns out that the expectant mother has a heart defect. In this case, the pregnant woman should be hospitalized to diagnose and correct the condition. The issue of drug therapy is being addressed.
Mutafyan O. A. in the book "Anomalies of the development of the heart in children" described in detail all types of defects. The characteristic features of hemodynamic pathologies with congenital and acquired defects, small heart abnormalities and the nature of their medical reflection are depicted in detail. The information is clearly formulated for both conservative treatment and surgical correction of flaws, pre- and postoperative management and treatment of patients. A huge section is devoted to the main complications of malformations and small deviations of the heart, their rational therapy and prevention.