In recent years, the increasing interest of scientists has been attracted by minor developmental pathologies (MAP) and their allowable differential diagnostic value in various diseases. According to the judgment of G. I. Lazyuk, Mehes et al., minor developmental anomalies include such developmental pathologies that do not lead to organ dysfunction and are not considered significant cosmetic defects. And yet, up to these times, there is no general view in the academic literature about what directly structural variants should be considered as minor developmental anomalies. In the ICD-10, a minor anomaly of the development of the heart in children is listed under the code Q20.9. The ICD-10 is the International Classification of Diseases, 10th Revision, developed by WHO and is the generally accepted classification for coding medical diagnoses.
Reasons
Some genetic diseases or disorders, such as Down syndrome, are associated with congenital heart defects. Certain substances or diseases that a pregnant woman is exposed to can lead to congenital heart diseaseher unborn child. These include prescription drugs, rubella and diabetes.
Symptoms
Common symptoms of congenital heart disease in adults include:
- Shortness of breath, especially during exercise.
- Fatigue.
- Cyanosis (a blue tint to the lips, skin, or nails caused by a lack of oxygen).
- Heart murmur.
- Abnormal heart rhythms (arrhythmias).
- Swelling of limbs.
Many of these symptoms can be confused with symptoms of other diseases that affect the heart, lungs, as well as less serious diseases, the effects of aging and physical inactivity.
Diagnosis
Tests commonly used to diagnose minor heart anomaly (ICD-10 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 the pressure inside the heart.
- Electrocardiogram: identifying problems with heart rhythm.
- 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
A number of approaches can be applied in the treatment of congenital heart disease, depending on the type and severity of the defect. The main points of therapy for the disease should be highlighted.
Observation
Some minor congenital heart defects found in adults never need to be treated or corrected. However, these patients should have regular cardiac examinations to ensure that the defect does not worsen over time.
Drugs
Some minor congenital heart defects can be treated with drugs to help the heart work better. These include:
- Beta-blockers for slow heartbeats.
- Calcium channel blockers will 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 disease. Some drugs that help with one type of defect may make others worse. Many patients with congenital heart disease are at risk of inflammation of the heart (endocarditis), even if their defect has been corrected.
Surgery, catheter intervention
Some congenital malformations, such as a patent foramen ovale with a minor anomaly of the heart, discovered during adulthood, need to be correctedsurgically. For many of them, surgery can be performed through a catheter, a tube that goes through a blood vessel to the heart. Catheter techniques may be used to repair small septal defects 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 done using a catheter.
Valve replacement and repair of more complex congenital heart defects, namely the correction of an additional chord with a minor anomaly of the heart, can be performed using open heart surgery.
Although rare, a patient with life-threatening congenital heart disease may receive a heart transplant or a heart and lung transplant. These procedures are only performed on patients who are he althy enough to undergo major surgery.
Small developmental anomalies of the heart in children
Approximately one in 100 babies is born with a heart defect. This is called congenital heart disease. Some defects are mild and do not cause significant impairment of cardiac 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 he alth 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 with 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 prevent circulation around the organ and arteries.
- Underdeveloped parts of the heart itself.
Acquired heart disease
Illnesses that can lead to heart problems include myocarditis (inflammation of the heart muscle), cardiomyopathy (disease of the heart muscle), rheumatic heart disease (a disease that can follow a streptococcal bacterial infection) and Kawasaki disease (a disease with fever, rash, and swollen lymph glands that can affect the heart). They are called acquired heart disease.
Some children with a genetic condition called Noonan syndrome may also have abnormal development of the heart septa.
Causes of defects
In about eight out of 10 cases, the cause of a congenital heart defect is unknown. Some of the known causes are:
- Genes - 20% of cases have a genetic cause.
- Other Birth Defects - A baby who has certain birth defects such as Down syndrome is more likely to have a heart defect.
- Maternalillness - illness in the mother during pregnancy (such as rubella) can increase the risk of congenital heart defects.
- Medications (over-the-counter or prescription) or illegal drugs taken by a mother during pregnancy may increase the risk of congenital heart defects.
- Alcohol - A mother drinking large amounts of alcohol during pregnancy may increase the risk of congenital heart defects.
- Maternal he alth. Factors such as unmanaged diabetes and poor nutrition during pregnancy can increase the risk.
- Maternal age - children of older women are more likely to have a birth defect than children of young women.
Almost one in every 100 babies 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, nearly 90% of CAD patients reach adulthood. 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 younger patients need constant monitoring throughout their lives and will require some sort 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 develop heart failure that can be managed with medication, other cases may eventuallyrequire a transplant. Some patients predominantly experience heart rhythm problems (arrhythmias). Still others receive excess blood flow to the lungs and eventually develop pulmonary hypertension. Those with heart valve problems or defects in the aorta require corrective surgery.
“The treatment of congenital heart disease is really related to clinical cardiology and every patient is different – even within a diagnosis there is a lot of variability in how you treat individual patients,” explained Dr. Bowchesne. “Great advances have been made in surgical techniques, anesthesia, non-surgical interventions and imaging,” he continued, “resulting in significantly improved outcomes seen in children with CAD and a steady increase in the number of adults living with CHD.”
“The problem with CHD is that no one has figured out how to prevent it. The genetics are complex and incomprehensible, and the incidence does not change,” said Dr. Bowchesne.
Suggested to have a genetic component as 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 he alth of people with congenital heart disease in the long term can be challenging.
The first hurdle is the transition of patients from the pediatric facility, where they have so far received all the care they need, to the adult clinic at the new hospital. When they move to a new location, the level of exhaustionquite high,” said Joanne Morin, Advanced Practice Nurse at the Adult Congenital Heart Clinic.
“The problem with transitioning CAD patients,” Maureen explains, “is that they often feel perfectly he althy, which can cause them to forgo regular follow-up care. We try to give them the impression that although they feel great and everything is fine now, it may not be the case in the future. We can see changes in test results and inform patients of any abnormalities in their examinations. Our goal is to prevent the progression of the disease. We don't want people to show up on our doorstep when it's too late,” she stressed.
"One of the key messages for patients is that there are effective treatments in medicine, but full recovery is not always possible," said Dr. Bowchesne. - If you have appendicitis, then you will be operated on, and everything will be fixed. This is how people tend to think about surgery. But in the case of the UPU, the situation is different. A number of patients will have problems that come up and people need to understand that.”
The chronic nature of the treatment does suggest that the clinic will follow up with their patients over a long period of time, but this is often difficult. “Our patients are mostly young and they move around a lot - their addresses and phone numbers change. Young women get married and change their names. It's important to keep in touch with people with CHD,” Maureen said.
About one quarterof patients with congenital heart defects has obvious limitations on their physical activity, with 5-10% having severe limitations. Some should not engage in activities that have a negative impact on the functioning of the heart.
Much of the work cardiologists do with people diagnosed with CHD is counseling young patients on topics such as participating in sports or making safer work choices. Problems with cosmetic defects of the body are not uncommon, especially for patients with significant surgical scars.
Pregnancy is another problem. Some types of congenital heart disease, even if 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 endure and give birth to a he althy child. Sometimes during pregnancy it turns out that the expectant mother has a heart defect. In this case, the pregnant woman should be hospitalized for diagnosis and correction of the condition. The issue of drug therapy is being addressed.
Mutafyan OA in the book "Anomalies in the development of the heart in children" described in detail all types of defects. The characteristic features of hemodynamic pathologies in congenital and acquired defects, minor anomalies of the heart and the nature of their medical reflection are depicted in detail. Information is clearly formulated for both conservative treatment and surgical correction of defects, pre- and postoperative management and therapy of patients. A huge section is devoted to the main complications of defects and small deviationshearts, their rational therapy and prevention.
