Heart disease: causes, symptoms, diagnosis, treatment

Published: 10/19/2021 13:10:00 Updated: 10/19/2021

Heart disease is deformation and pathological changes in the structure of valves, septa and chamber walls, which lead to improper functioning of the organ and disruption of intracardiac hemodynamics.

The disease can be congenital or acquired. The chance of transmitting congenital heart disease from mother to child ranges from 3% to 50%. In clinically healthy parents, the risk of having a child with this pathology is 1% [1].

Heart disease is associated with a high risk of intrauterine and child mortality, sudden death in older patients, and also reduces the quality of life and ability to work, leading to disability.

Prevention of the disease includes proper pregnancy planning, a healthy lifestyle, timely diagnosis and treatment of pathology in the early stages. Surgery is considered the most effective therapy.

Classification and causes of heart defects

Based on their origin, there are two main classes of this disease.
Congenital heart disease develops in babies between the third and eighth weeks of pregnancy due to abnormal formation of the organ. Such pathologies can cause spontaneous abortions or stillbirth. In addition, risk factors include:

• on the part of the parents: alcohol or drug addiction, genetic predisposition;
• on the mother’s side: poor nutrition, previous infections (syphilis, measles, rubella), taking certain medications, metabolic disorders (obesity, diabetes, phenylketonuria), chronic diseases (damages of the respiratory and cardiovascular systems), poor environment, working in hazardous production.

Acquired heart defects develop throughout life.
They are caused by functional and structural changes in the organ due to infectious lesions, inflammatory and autoimmune processes in its tissues. An excessive load on the chambers of the heart is also considered a provoking factor, for example, when one chamber is forced to pump blood through a narrowed aorta, when an additional volume of blood enters the chamber from another chamber when the hole between them is not fused or when the valve is insufficient. Based on the location of the defect, they are distinguished:

• for congenital heart disease: atrial septal defect, ventricular septal defect, patent ductus arteriosus, narrowing of the aorta and tetralogy of Fallot;
• with acquired heart disease: atherosclerotic, syphilitic, rheumatic forms or pathology caused by endocarditis, sepsis, autoimmune reactions, etc.

Based on the severity of hemodynamic disturbances inside the heart, a distinction is made between moderate and severe pathology or defect without affecting the movement of blood within the organ.
According to the general assessment of hemodynamics, heart defects are compensated, subcompensated or decompensated.

Based on the number of affected valves, multivalve (tricuspid or mitral) or combined heart disease (involving both valves and/or the aorta) is distinguished.

What is a heart defect?

The heart is divided into two halves. One of them feeds the pulmonary circulation, in which venous blood is saturated with oxygen, and the other – the systemic circulation, which nourishes all tissues and organs. The median septum prevents venous and arterial blood from mixing. Each half contains an atrium and a ventricle, as well as a valve system. Together, this complex ensures the orderly forward movement of blood in the chosen direction. It is enough for damage to appear in one of the mentioned structures, and the entire circulatory system will be disrupted. Tissues and organs will receive insufficient oxygen and nutrition.

Symptoms of heart disease

With a minor violation, the symptoms of the disease do not appear for a long time.
If hemodynamics are seriously impaired, shortness of breath, bluish skin, swelling, pain in the heart, rapid heartbeat, causeless cough, increased fatigue, decreased ability to work, dizziness and fainting, high or low blood pressure are observed. Auscultation also reveals a heart murmur. In newborns, heart disease is manifested by the appearance of cyanosis during breastfeeding, cold extremities and the tip of the nose, poor weight gain, and developmental delays.

Treatment

It is impossible to cure heart disease using conservative methods, but many PPS can be compensated for by taking medications:

• antibacterial therapy;
• immune therapy;
• ACE inhibitors - to stabilize high blood pressure;
• beta-blockers - reduce heart rate, stabilize blood pressure, increase myocardial resistance to oxygen starvation, etc.;
• diuretics - to eliminate edema;
• antiarrhythmic drugs;
• anticoagulant agents.

When drug treatment is unable to compensate for existing pathologies, surgery to replace or reconstruct the valves is prescribed. For this purpose, mechanical or biological prosthetic structures are used.

On a note!

There is one exception with respect to congenital heart disease - patent ductus arteriosus can be completely eliminated with medication, but only if treatment is started on the first day after the birth of the child. Everything else can be treated only with surgical interventions.

Diagnosis of heart defects

The doctor may suspect the disease during the initial examination based on external signs such as bluish or pale skin, shortness of breath at rest.
On auscultation, a characteristic heart murmur or rhythm disturbances are heard. Using palpation, the doctor identifies swelling, pulsation of veins, and the borders of the liver. Light and heart sounds are heard percussion, and the boundaries of the heart are determined. It is important to collect anamnesis: patient complaints (for children - symptoms observed by parents), chronic, hereditary and past infectious diseases.

To confirm and clarify the diagnosis, additional examinations are carried out.

Laboratory diagnosis of heart disease includes a general blood test (leukoformula, hematocrit), urine analysis according to Nechiporenko. Instrumental methods include electrocardiogram, 24-hour Holter monitoring, cardiac ultrasound, chest x-ray, MRI of the heart and large vessels, and ECHO-CG.

For those planning pregnancy and pregnant women, it is recommended to undergo a special set of examinations:

• complete blood count, blood group and Rh factor, antibodies to Rh factor;
• cytological examination of smears from the cervix and cervical canal;
• test for TORCH infections (toxoplasmosis, rubella, cytomegalovirus infection, herpetic infection);
• to exclude renal failure: biochemical blood test (creatinine, urea, potassium, calcium, phosphorus, triglycerides, alkaline phosphatase, cholesterol, glucose), ultrasound of the pelvic organs, CT and MRI of the abdominal organs;
• pregnancy-associated plasma protein test;
• molecular study of the number of X chromosomes;
• genetic test to determine polymorphisms associated with the risk of developing arterial hypertension (hypertension) in the blood.

“Blue or white”: what are heart defects in children?

Heart defects require close attention. When faced with such a diagnosis in children, parents may feel confused. Tatyana Mikhailovna Frolova, a pediatric cardiologist at the Expert Clinic Smolensk, will help us understand the issue.

— What is a heart defect in a child and why is it dangerous?

— Heart defects are structural abnormalities of the heart and large vessels. They can be congenital or acquired. Congenital heart defects are more common in children.

Heart defects vary in severity. There are critical defects in which hemodynamic disturbances are incompatible with life. In this case, in the absence of timely assistance, death occurs in the first hours or days after birth. If the heart defect is not critical, it still poses a danger: the heart experiences increased stress, this leads to myocardial dystrophy, chronic heart failure, and early disability.

Heart defects are structural abnormalities of the heart and large vessels. They can be congenital or acquired. Congenital heart defects are more common in children .

— What does “blue/white (pale) type heart defect” mean?

- This is one of the classifications. This division was proposed by the American Heart Association. The white or pale type includes those heart defects in which venous and arterial blood do not mix, or arterial blood enters the venous bed (there is no oxygen starvation of the body). With blue defects, venous blood mixes with arterial blood, as a result of which the oxygen content sharply decreases, cyanosis occurs, and the body experiences significant oxygen starvation. Usually it is the blue type defects that are the most severe.

— Is this division used now?

— Yes, this is one of the possible classifications of congenital heart defects in children.

— What congenital heart defects are especially common?

— The most common types are ventricular septal defect (about 40% of cases), atrial septal defect (about 11% of cases) and patent ductus arteriosus (about 10% of cases).

— Are the symptoms of congenital heart defects always noticeable immediately after the birth of a child?

— It depends on how severe the hemodynamic disturbances are. Severe heart defects are immediately noticeable. If hemodynamic disturbances are minor, there may be no external signs. However, such defects cannot be ignored. For the timely diagnosis of heart defects in children, mandatory screening has been introduced: before the child is one year old, they certainly undergo echocardiography.

“Ultrasound of the heart and echocardiography are the same thing.” Quote from the material “What a heart ultrasound will tell you”

— What are the causes of heart defects in children?

— 90% of congenital heart defects have several combined causes for their development (multifactorial theory of occurrence). The causes of congenital heart defects include maternal diseases (arterial hypertension, diabetes mellitus, metabolic disorders, previous miscarriages, etc.), bad habits (smoking, drinking alcohol and drugs), previous infectious diseases, especially in early pregnancy ( After all, the fetal heart is formed already from the 5th week). The most dangerous infections are rubella, Coxsackie virus and cytomegalovirus, viral infections with a rise in temperature in the first trimester of pregnancy in the mother.

Read the material on the topic: What are the dangers of TORCH infections?

We must not forget about the teratogenic effect of some drugs (for example, antiepileptic drugs, lithium, thalidomide, vitamin A, isotretinoin, sulfasalazine, ibuprofen, trimethoprim) and the toxic effect of constant contact with certain substances in hazardous industries (varnishes, paints).

About 8-12% of congenital heart defects are associated with chromosomal abnormalities (Down syndrome, Edwards, Patau, etc.) and only 2% are hereditary (if there are relatives with similar heart defects in the family).

Acquired heart defects in children are the result of complications of serious diseases. Most often, the following pathologies lead to the formation of the defect: rheumatic fever, infective endocarditis, systemic connective tissue diseases (including hereditary connective tissue dysplasia), cardiomyopathies (hypertrophic and dilated).

— Tatyana Mikhailovna, in what cases is it worth going to a cardiologist to rule out acquired heart disease? What are the signs of heart disease in a child that should alert parents?

— As I already said, acquired heart defects are the consequences of serious illnesses. Usually, with such diseases, children are already under the supervision of a doctor. Doctors are aware of the possible complications of systemic diseases.

Connective tissue dysplasia requires special attention, since changes in the heart can be asymptomatic for a long time. In this case, parents need to pay attention to such signs as fatigue, decreased tolerance to physical activity, and shortness of breath. Similar manifestations can occur in congenital heart defects that are not diagnosed in time. Therefore, you need to pay attention to such symptoms. And be sure to undergo medical examination in a timely manner.

One of the symptoms of heart disease in a child may be a heart murmur. Read more about this in our article

— Please tell us about the methods of treating heart defects. Is it possible to fully compensate for hemodynamic disorders?

— Treatment methods are divided into surgical and therapeutic. Surgical, in turn, can be radical or auxiliary. Radical operations are aimed at completely eliminating the defect. Blood circulation normalizes, patients can subsequently lead a normal lifestyle and play sports.

If it is immediately impossible to completely eliminate the defect, surgery is performed to correct hemodynamics. An auxiliary operation allows you to reduce the load on the heart and prepare for radical surgery.

Conservative (therapeutic) measures are aimed at reducing the load, improving heart nutrition and preparing for surgery. It is impossible to completely eliminate the defect using conservative methods alone.

You can make an appointment with a pediatric cardiologist here

ATTENTION: the service is not available in all cities

Interviewed by Daria Ushkova

For reference:

Frolova Tatyana Mikhailovna

Graduate of the pediatric faculty of the Orenburg State Medical Academy in 1997.

In 1998, she completed her internship in the specialty “Pediatrics”.

In 1999-2001 she completed postgraduate studies by correspondence and has an academic degree of Candidate of Medical Sciences.

In 2014 - professional retraining in the specialty "Pediatric Cardiology", in 2017 - in the specialty "Functional Diagnostics".

Currently holds the position of pediatric cardiologist and functional diagnostics doctor at the Expert Clinic, Smolensk. Receives at the address: st. 8 March, no. 20

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Treatment of heart disease

With congenital pathology, the diagnosis is usually known even before birth.
Only surgical treatment aimed at completely eliminating the cause is considered effective. The sooner an operation to correct a heart defect is performed, the greater the chance that the defect will not affect the child’s development, and the lower the risk of postoperative complications. If such intervention is not possible, then the child is prescribed a special regimen of physical activity and nutrition. The treatment tactics for an acquired disease require an integrated approach. In this subgroup of patients, medication (symptomatic) treatment, diet therapy, and lifestyle correction are first used. If there is no effect, worsening symptoms or risk of complications, surgery is prescribed.

There are several types of surgical intervention for heart defects:

• bypass (creating a new path for blood flow bypassing the affected area of ​​the vessel);
• endoprosthetics (replacement of the affected valve with a prosthesis);
• separation (valvuloplasty) and dissection (valvotomy) of the valve leaflets.

Classification

Depending on the type of damage, the defects are:

• with a septal defect;
• with a valve defect.

In terms of their extent, disturbances in the structure of the heart can be simple, complex and combined, and in terms of the level of hypoxia - white, when the supply of oxygen to cells is maintained at a sufficient level, and blue (with cyanosis). In the latter case, in order to avoid death or irreparable destruction of brain structures, urgent surgical intervention is performed.

The classification proposed by the New York Association of Cardiac Surgeons distinguishes 4 classes of complexity of heart defects:

1. First class - there is a defect, but there are no serious changes in the anatomy of the heart. No surgery required.
2. Second class - changes in the parts of the heart are reversible, there are no other damage to the body caused by the defect. The success rate after surgery is 100%.
3. The third class is irreversible deviations in the anatomy of the heart and reversible disorders in other organs.
4. Fourth class - all changes in the heart and internal organs are irreversible. High risk of death.

In addition, all heart defects can be divided into 2 groups:

• Congenital - formed as a result of genetic mutations or as a consequence of intrauterine development disorders. Diagnosed in childhood.
• Acquired - manifest themselves in an initially healthy body throughout life. They are often the result of complications after an illness or injury.

Prognosis for heart disease

Given the seriousness of the disease, the question of how long patients with heart disease live and how to increase their life expectancy arises.
According to statistics, 25% of children with congenital pathology die in early infancy and another 50% in the first year of life. Without treatment, about 10% of children survive into adolescence. Thanks to modern technologies, up to 80% of people with congenital heart disease live into middle age [2].

With valvular heart disease, there is a high percentage of sudden death, so the timeliness of surgical treatment in this subgroup of patients plays a decisive role.

Acquired pathology can manifest itself at a later age. Life expectancy in this case depends on the patient’s general health, physical endurance, individual characteristics, living and working conditions.

Diagnostics

A basic set of diagnostic procedures for detecting heart defects:

• survey for complaints and medical history;
• examination of the patient with palpation, auscultation and tapping of the chest;
• ECG of the heart;
• echocardiography – ultrasound examination;
• chest x-ray.

Newborns with heart disease are characterized by low body weight, low physical activity, and a characteristic blue discoloration of the nasolabial triangle.

When examining for heart disease, symptoms in adult patients are quite specific:

• difficulty breathing, especially when lying down;
• rapid fatigue with low physical activity;
• constant drowsiness, dizziness, possible fainting;
• tissue swelling, most pronounced in the legs;
• frequent attacks of angina pectoris;
• liver problems – possible pain in the right hypochondrium;
• frequent infections;
• drumstick syndrome - the extreme phalanges of the fingers have a characteristic rounded-thickened shape (a sign of chronic circulatory disorders in the body).

In addition to the general symptoms of heart disease, there are also symptoms specific to its individual forms:

• pronounced blush against the background of general pallor of the face - with mitral stenosis;
• false athleticism with a normally developed upper body and weakened muscles of the lower extremities - with coarctation (narrowing) of the aorta;
• “heart hump” (protrusion of the chest) – with defects of the cardiac septum.

Prevention and recommendations for heart defects

Congenital heart disease can be prevented only through a comprehensive assessment of the health status of parents when planning pregnancy, adherence to a nutritious diet and proper conditions for the pregnant woman.
Prevention of acquired heart disease consists of timely and complete cure of the underlying disease that caused the pathology. General recommendations include following a cardiotrophic diet, quitting smoking and alcohol, moderate physical activity, avoiding colds and infectious diseases, and undergoing regular examinations by a cardiologist.

Preventive measures

Prevention of acquired defects consists of a healthy lifestyle. It allows not only to strengthen the body’s defenses against infections, but also to enhance its regenerative capabilities in the event of traumatic injuries. Basic recommendations:

• Follow a proper diet with a sufficient amount of vitamins, microelements, PUFAs - eat more fresh vegetables, fruits, herbs, lean fish, coarse cereals.
• Regularly practice moderate physical activity - cardio training in the gym, Nordic walking and even just walking in the fresh air will gradually strengthen your heart muscle. If you have pathologies of the musculoskeletal system, you can go swimming and water aerobics.
• Monitor your blood pressure levels. Stop his surges in a timely manner with specially selected drugs.
• Monitor the functional activity of internal organs and systems – primarily the thyroid gland, kidneys, and liver.
• If possible, avoid stress, create a psychologically comfortable environment around yourself - an interesting job, an exciting hobby, nice people.

Prevention of birth defects primarily concerns future parents. Before conceiving a child, as well as throughout pregnancy (the first trimester is especially dangerous), the expectant mother should adhere to the following preparation rules:

• Stop smoking not only as an active smoker, but also in the form of passive smoke inhalation - staying in rooms smoky with tobacco smoke can be just as dangerous for your unborn baby.
• Stop drinking alcohol in any form - strong drinks, alcohol-containing products, and alcohol-based medications can have a teratogenic effect on the fetus.
• Get tested for chronic infections - herpes, toxoplasma, cytomegalovirus, etc. and, if necessary, undergo treatment.
• Before you become pregnant, get vaccinated against diseases such as rubella (the most dangerous), chickenpox, mumps, measles, hepatitis B, polio, and additionally against diphtheria and tetanus. If you have already had one of the childhood infections, the list can be shortened. Under no circumstances should you get vaccinated during pregnancy - a vaccine is no less dangerous for the fetus than a full-fledged virus.
• If you are taking medications that are potentially dangerous to the fetus, consult your doctor and replace them with more gentle ones during pregnancy.

If you are taking narcotic drugs, additional treatment and rehabilitation therapy may be required. Pregnancy due to drug addiction poses a direct threat to the normal development of the child.