Human heart defects, types and symptoms

Human heart defects, types and symptoms

Heart defects are a common name for a group of persistent disorders of cardiac activity caused by pathological changes in the structure of the heart, its valve apparatus and vessels departing from it. As a consequence, disorders of intracardiac and general hemodynamics (blood circulation) occur.

Classification, symptoms and signs
There is a generally accepted classification according to which congenital heart defects and acquired ones are distinguished. These are 2 main groups, each of which includes several types of pathologies. They differ in both causes of occurrence and symptoms, features of development, methods of diagnosis and treatment.

Congenital heart disease (CHD)
It occurs as a result of abnormal formation of the heart and large vessels in the first 3-8 weeks of fetal development, which was facilitated by the negative impact of some external factors, maternal diseases or innate heredity. Some CHD occur in the first 2-3 months of a person’s life due to a violation of the restructuring of the intrauterine blood circulation of the fetus, combined with the maternal blood flow, to an independent mechanism.

There are more than 35 types of different VPS, the most common of them are listed below.

Atrial septal defect (DMPP)
Congenital abnormal connection between the left and right atria, which is 2-3 times more susceptible to female representatives. In children, it can occur without any symptoms, some calmly go in for sports. With age , they appear

  • shortness of breath during exercise;
  • pallor of the skin;
  • fatigue;
  • predisposition to bronchitis.

For some time, well-being may subjectively improve, but after 20 years, most patients’ condition worsens. Shortness of breath increases, cyanosis (cyanotic color) of the skin appears, the rhythm of the heart is disturbed.

Ventricular septal defect (LVD)
A malformation of the septum, leading to the formation of a message of the left and right ventricles. Patients usually do not complain, the size of the heart is not enlarged, pulmonary hypertension does not develop, there is a tendency to spontaneous closure of the defect. With medium and large defects, children lag behind in physical development, frequent pneumonia is possible. On examination, the pallor of the skin, a parasternal “heart hump” is noted.

Open Ductus arteriosus (OAP)
The ductus arteriosus, a vessel connecting the aorta and the pulmonary artery, is necessary only for the intrauterine development of the fetus. After the first breath at birth, pulmonary circulation appears, and the need for a duct disappears, it closes for 10 days. A defect is considered to be its functioning in full-term children over this period.

Human heart defects, types and symptoms

Clinical manifestations depend on the volume of blood discharged through the duct. With a wide duct, when the discharge is large, it is noted:

lag in physical development;
shortness of breath during exercise;
susceptibility to acute respiratory viral infections and pneumonia;
If the size of the duct is small, then the pathology does not show any signs for a long time, expressed at puberty or later (childbirth, significant loads, sports). The pulse in patients with OAP is high, fast, pulsation of the vessels of the neck, capillary pulse is determined. Diastolic pressure is reduced, although systolic is normal or moderately elevated.

Aortic Coarctation (CA)
Congenital narrowing of the aorta, most often at the point of transition of the aortic arch to its descending part. It makes up 5-8% of the total number of CHD, among the patients there are much more men. Symptoms are determined by anatomical, age-related changes and combination with other CHD, namely:

slowing down of physical development;
disproportion of physique – good development of the shoulder girdle against the background of general growth retardation, hypotrophy of the muscles of the lower extremities;
increased fatigue;
dizziness, fainting.
Over time, nosebleeds, pain in the heart area, leg muscle cramps, complaints that the feet are freezing are possible. Women may have menstrual disorders, infertility. Sometimes patients have hypertensive crises.

Today, CHD occurs with a frequency of 8 per 1000, or 1 per 125 newborns. More often than other types, DMZHP is observed (from 30 to 50% of all CHD), OAP accounts for 10% of cases.

Acquired heart disease (PPS)
A disease based on morphological (changes in structure) or functional disorders of the valve apparatus (valve flaps, fibrous ring, chords, papillary muscles). PPS develops as a result of acute or chronic diseases or injuries that disrupt the function of valves and cause changes in intracardiac hemodynamics.

In a normal state, heart valves provide blood flow in one direction: at the right moments they close and open, letting blood through or putting a barrier to it. When a defect is formed, an organic lesion of the valve apparatus of various genesis (origin) occurs. The defeat of the heart valves manifests itself in their inability to fully open (leads to a narrowing of the corresponding opening) or in incomplete closure (causes their insufficiency).

Stenosis (narrowing) of the valve openings is accompanied by a decrease in the area of the outlet, which leads to difficulty emptying the heart cavity and an increase in pressure between its departments.

Valve insufficiency is characterized by regurgitation, that is, the reverse flow of blood due to incomplete closure of the valves due to their shortening, wrinkling, perforation or expansion of the fibrous valve ring.

Mitral valve insufficiency (MVP)

The heart defect of the left atrioventricular valve prevents the reverse flow of blood from the left ventricle to the left atrium during systole (contraction) of the ventricles of the heart. It is registered in 50% of patients with various heart defects, but in its pure form it is rare. In children, it is observed much more often than in adults. It is often combined with mitral stenosis or aortic valve defects. During the NMC, 3 periods are conditionally distinguished: compensation, pulmonary venous hypertension and right ventricular insufficiency.

Since compensation falls on the most powerful part of the heart – the left ventricle, this period is quite long. An asymptomatic course can be observed for several years. When clinical symptoms appear, the most typical complaints are shortness of breath (98%), fatigue (87%). At later stages , there are:

acrocyanosis – cyanosis of the lips, tip of the nose, fingers;
orthopnea – shortness of breath in a supine position, the patient is forced to prefer a sitting or reclining position;
swelling on the legs;
swelling of the cervical veins;
rarely – an increase in the volume of the abdomen (ascites).
Mitral stenosis (MS)
This is called the narrowing of the left atrioventricular orifice, which prevents the flow of blood from the left atrium into the ventricle with ventricular diastole. The most characteristic complaint is shortness of breath, which is often the reason for going to the doctor. It occurs under load when the valve area is halved. As the narrowing progresses, other symptoms appear:

  • orthopnea;
  • nocturnal attacks of cardiac asthma;
  • tachycardia;
  • muscle weakness, fatigue;
  • heaviness in the right hypochondrium;
  • dyspeptic disorders;
  • pain in the heart area.

Typical signs of severe MS are the bluish-red color of the cheeks, resulting from a decrease in cardiac output, and a different pulse on the radial arteries of the upper extremities.

Aortic valve insufficiency
The cause is the deformation of the connective tissue of the aortic valve. Its flaps become shorter, they may sag, the edges thicken – all this leads to insufficient closure of the flaps during diastole.

The symptoms depend on the rate of formation and the size of the valve defect. At the compensation stage, subjective sensations are usually absent. Shortness of breath begins only with significant physical exertion, but then, as left ventricular insufficiency develops, it is at rest and resembles cardiac asthma. May also be present:

angina pectoris;
pallor of the skin;
pronounced pulsation of the carotid arteries – “carotene dance”;
synchronous with the pulsation of the carotid arteries tic of the head (Musset’s symptom);
pulsating constriction of the pupils (Landolfi’s symptom);
high and fast pulse.
Sometimes there is a capillary pulse – a rhythmic change in the intensity of the color of the palatine uvula and tonsils (Muller’s symptom), the nail bed (Krinke’s symptom).

Stenosis of the aortic mouth
Due to the lesion, the aortic valve flaps thicken, become denser, these processes are facilitated by the appearance of fibrous overlays on the ventricular side of the valve. At the same time, the valve tissue grows due to mechanical irritation by intense blood flow. The free edges of the flaps are soldered together, which causes a gradual narrowing of the aortic opening.

With small anatomical changes in the aortic valve, patients have not complained about their health for many years, retain a fairly high ability to work, can play sports and tolerate heavy physical exertion well. A more pronounced barrier to blood flow from the left ventricle increases the strength of heart contractions, there is a feeling of a pronounced heartbeat. The development of the defect is accompanied by the following signs:

rapid fatigue;
shortness of breath;
loss of consciousness;
the pulse is slow, weak.
Stress angina is often observed, caused by a mismatch of the coronary blood flow to the metabolic needs of the hypertrophied left ventricle. Inadequate, excessive load will burn to provoke pulmonary edema. The appearance of cardiac asthma attacks in combination with angina are considered as a symptom of an unfavorable prognosis.

Diagnostic measures for detecting a heart defect and determining its type require an integrated approach. To begin with, the doctor collects anamnesis: finds out the patient’s complaints, the time and circumstances of their manifestation, intensity, hereditary factors. At this stage, information from close people will also be valuable, they often notice details that the patient does not attach importance to.

Next, the doctor performs a physical diagnosis:

visual inspection;
palpation (feeling);
percussion (tapping);
auscultation (listening).
Visually assess the color of the skin, the structure of the patient’s body, features of development, preferred posture. Palpation determines the characteristics of pulse, heart rate, systolic tremor, skin temperature in different parts of the body. Heart tones, their accents, diastolic and systolic noises are determined auscultatively. Percussion reveals the expansion of the boundaries of the heart and other organs. Blood pressure must be measured.

Laboratory diagnostics is mandatory:

biochemical and general blood analysis (ESR, leukocytes, hemoglobin);
serological examination (proteins, protein fractions, fibrinogen, etc.);
After physical and laboratory diagnostics, instrumental methods of examination are prescribed.

One of the main methods of diagnosis of heart defects and detection of accompanying anomalies. Allows for a detailed visualization of the anomaly, to assess its size and impact on hemodynamics. In color and pulse Doppler modes, it is possible to determine the speed and direction of blood flow. A key study to confirm the diagnosis, assess the severity of the pathology and prognosis.

Human heart defects, types and symptoms

A variation of this technique – transesophageal echocardiography – is indicated for classical transthoracic echocardiography that is difficult for various reasons. It is mandatory to perform an operation on the valve to monitor the results.

Cardiac catheterization
It is used to confirm the diagnosis if Doppler echography is unable to reveal in detail the morphological parameters of the defect and its hemodynamic significance, as well as when performing certain types of correction of anomalies.

Load tests
Exercise tests are useful for detecting objective signs in patients without clinical symptoms and expressed complaints. The method is recommended for truly asymptomatic patients with aortic stenosis.

Computed tomography (CT)
technique allows you to accurately determine the severity of calcification of valves with high reliability of the result. In specialized centers, spiral CT is used to exclude coronary heart disease in patients with low risk of atherosclerosis.

Other methods of instrumental examination are also used:

electrocardiography (ECG);
chest X-ray in two projections;
daily ECG monitoring.
Causes of development
The most common causes of birth defects include:

adverse environmental factors (chemical, biological, physical gibberish);
combined effects of hereditary factors and the environment – cause 90% of cases of CHD;
chromosomal abnormalities (8%);
rubella suffered during pregnancy;
taking certain medications (anticonvulsants, hormonal contraceptives, etc.).
Among the causes of the development of acquired heart defects are:

rheumatism (about 75% of cases);
infectious endocarditis;
rheumatoid arthritis;
systemic connective tissue diseases;
acute myocardial infarction;
postinfarction cardiosclerosis;
coronary heart disease;
aortic aneurysm;
primary “idiopathic” calcification of the fibrous ring;
heart injuries, etc.
In most cases, surgical treatment of heart defects is recommended, that is, the implementation of surgical operations. Traditional (drug) therapy plays the role of an auxiliary technique, drugs are used for the prevention and treatment of heart failure and other complications.

Treatment with medications for CHD is pathogenetic, aimed at mobilizing compensatory mechanisms and achieving an optimal state of the patient’s body by the time of surgery. Conservative therapy for PPS at the stages of compensation, drug therapy of heart failure and, if necessary, rheumocarditis is administered, operations are indicated in case of decompensation.

What doctors treat
A key role in the treatment of any type of heart defect is played by a specialized cardiologist, cardiotherapist and cardiac surgeon. It is they who, on the basis of the data obtained in the course of a comprehensive diagnosis, diagnose and determine further treatment tactics.

In addition to them, instrumental and laboratory diagnostic doctors take part in the treatment process. Patients with heart disease must necessarily undergo a thorough examination at least once a year. This will allow you to identify critical violations in time and take the necessary therapeutic measures.

Heart defects are often difficult to distinguish from other diseases. Thus, coarctation of the aorta often takes place under the mask of vegetative-vascular dystonia, arterial hypertension of unclear genesis. The symptoms of arterial stenosis are similar to the clinical picture of a number of cardiovascular diseases, and mitral stenosis should be distinguished from thyrotoxicosis.

Therefore, the qualification of a doctor is very important. Cardiologists of JSC “Medicine” (Academician Roitberg clinic) have many years of experience in the successful treatment of heart defects, the clinic occupies one of the leading places in this field.

For pathologies caused by CHD, indications for surgical operations are as follows:

signs of heart failure in case of ineffectiveness of drug therapy;
significant arteriovenous discharge (ratio of pulmonary to systemic blood volume 1.5:1 and more);
the child’s lag in physical development;
detection of dilatation of the right atrium and right ventricle according to echocardiography;
signs of pulmonary hypertension.
The indication for surgery with PPS is the development of any type of these defects to the stage of pronounced decompensation, when there is an immediate threat to the patient’s life.

A contraindication for surgical intervention in CHD will be the development of reverse (venoarterial) blood discharge through the defect.

Relative contraindications for PPS are:

hemodynamic instability;
coronary heart disease without proper treatment;
severe pulmonary pathology;
a blood clot in the left atrium;
severe concomitant aortic pathology, etc.


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