How to recognize a heart defect in a child and where to treat it

General information

Acquired defects can manifest themselves in different forms. By origin:

• due to rheumatism, which is a general inflammatory disease of connective tissue that affects the heart; Source: A.N. Kalyagin Features of management of patients with rheumatic heart defects and chronic heart failure // Modern Rheumatology, 2009, No. 3, pp. 24-29
• against the background of syphilis;
• due to an inflammatory process on the inner lining of the heart (endocarditis);
• and due to other systemic diseases leading to damage to the heart muscle or complications to it.

According to the degree of defect, the acquired defect can be:

• local (when the defect is only in 1 valve);
• combined (more than 1 valve is affected);
• combined (both stenosis and insufficiency are observed in one valve).

The defect may be a stenosis due to inflammation, which led to the formation of scars, prolapse (eversion of the valves into the heart cavity), or failure (valve valves do not close completely). In this case, different valves may be defective (aortic, tricuspid, mitral, located on the trunk of the pulmonary artery).

An acquired defect can be expressed in different ways; it has three degrees:

• mild (minor effect on blood circulation);
• moderate;
• heavy.

This group of pathologies entails a number of complications:

• heart failure;
• heart rhythm disturbances;
• blood clots

If left untreated or not detected early, heart disease can lead to disability and even death.

Sex-linked recessive inheritance

Sex-linked developmental defects are mainly caused by recessive mutations in the female sex chromosome (this type of inheritance is also called X-chromosomal). This trait is always transmitted through the mother, a carrier of the recessive “sick” gene (i.e., the woman herself is healthy). Almost all of those affected are men (the affected gene on the X chromosome does not have a “partner” on the Y chromosome that could dominate it). A sick man never transmits the disease to his sons (after all, they receive from him a “healthy” Y-chromosome, and not a mutant X-chromosome), but all his daughters will be carriers of the “fatal” gene.

We have schematically described the types of inheritance to give the reader a general understanding of the nature of these mechanisms. In fact, everything is much more complicated - much less clear and definite.

The table below lists, by way of example, just some of the hereditary abnormalities compatible with life.

Diagnosis of acquired defect

The most important thing in diagnosis is taking an anamnesis. The doctor analyzes past and existing diseases, their severity, characteristics of the course, and the effectiveness of the therapy. The child’s complaints are examined with close attention, and the specialist asks about injuries in the chest area. The child’s parents are always asked about heart disease or pathologies in someone in the family, about cases of heart defects.

The child is examined. Using a stethoscope, murmurs and pulmonary wheezing are detected. The doctor measures blood pressure and taps to determine the boundaries of the heart and, accordingly, its size.

Knowing the type of murmur can help preliminarily determine the type of heart defect.

Based on a comprehensive history and examination, the patient may be prescribed various laboratory and instrumental tests.

• Determination of liver size.
• General urine analysis.
• Clinical blood test.
• Blood chemistry.
• FKG.
• ECG.
• ECHO-KG.
• .
• X-ray with contrast.
• MRI. Source: R.K. Georgikia, G.I. Kharitonov Modern aspects of diagnosis and treatment of acquired heart defects // Kazan branch of Apteka-Holding CJSC, 2003, No. 2, pp. 25-26

WHO activities

In 2010, the World Health Assembly published a report on birth defects. The report outlines the main components of establishing national programs for the prevention and care of birth defects before and after birth. The report also recommends priority actions for the international community to help establish and strengthen such national programs.

The Global Strategy for Women's and Children's Health, launched in September 2010 by the United Nations in collaboration with government leaders and other organizations such as WHO and UNICEF, plays a critical role in implementing effective and cost-effective actions to improve newborn health and children.

WHO is also working with the National Center on Birth and Developmental Disabilities, part of the US Centers for Disease Control and Prevention (CDC), and other partners to develop global policies to fortify foods with folate at the country level. In addition, WHO is working with partners to provide the necessary technical expertise to conduct surveillance for neural tube defects, monitor efforts to fortify foods with folic acid salts, and strengthen laboratory capacity to assess the risks of birth defects prevented by folic acid salts.

The International Clearinghouse for Surveillance and Research on Birth Defects is a voluntary, non-profit international organization in official relations with WHO. This organization collects birth defects surveillance data and research programs around the world to study, prevent, and mitigate the effects of birth defects.

The WHO Departments of Reproductive Health and Research and Nutrition for Health and Development, in collaboration with the International Clearinghouse for Birth Defects Surveillance and Research and the CDC National Center for Birth Defects and Development, organize annual workshops on birth defect surveillance and prevention and premature birth. The WHO Department of HIV/AIDS is working with these partners to strengthen surveillance of malformations among women receiving antiretroviral drugs during pregnancy as an integral part of the monitoring and evaluation of national HIV programmes.

The GAVI Alliance, whose partners include WHO, is helping developing countries to strengthen the control and elimination of rubella and congenital rubella syndrome through immunization.

WHO is developing normative instruments, including guidelines and a global action plan to strengthen health care and rehabilitation services in support of the implementation of the Convention on the Rights of Persons with Disabilities. Similarly, WHO is helping countries integrate health and rehabilitation services into general primary health care systems, supporting the development of community-based rehabilitation programs and strengthening specialized rehabilitation centers and their linkages with community-based rehabilitation centres.

Treatment methodology

After the appearance of an acquired heart defect, the body compensates for the impaired circulatory function. That is, a sick child does not feel discomfort and does not feel the need for treatment.

Drug therapy is prescribed to stabilize the heart rhythm, reducing the risk of heart failure, relapses and complications of the disease that caused the defect.

The main method of treatment is surgery. During it, the heart valve can undergo changes, that is, the defect is corrected and proper function is restored. Or the damaged valve is replaced with an artificial one (prosthetics). Source: E.I. Kinoshenko Emergency conditions for acquired heart defects // Emergency Medicine, 2013, No. 4(51), pp. 9-24

What does an ultrasound of general fetal pathologies look like: photos and interpretation of ultrasound results

Genetic pathologies can be both specific (Down syndrome, Wilms tumor) and general, when the internal organ develops incorrectly. To identify common abnormalities, anatomical examination of the fetus is available. It is carried out in the 2nd semester starting from the 20th week of pregnancy. During this period, you can see the baby’s face and determine its gender.

With an anatomical ultrasound, all organs of the fetus are displayed on the screen in a section, and in the image the bones will appear white, and the soft tissues will appear in various shades of gray. The specialist can clearly see the structure of the brain; he is also able to see abnormalities in development. A cleft in the upper palate, called a cleft lip, becomes noticeable.

Longitudinal and transverse projections of the spine confirm or refute the correct location of the bones; one can verify the integrity of the abdominal wall. The absence of heart pathologies is confirmed by the identical sizes of the atria and ventricles. The normal functioning of the stomach is indicated by its fullness with amniotic fluid. The kidneys should be in their place, and urine from them should flow freely into the bladder. The doctor clearly sees the fetal limbs, except for the toes.

Disease prevention

The most important measure to prevent acquired heart disease is careful prevention of the diseases that lead to it. It is necessary to diagnose and treat sore throat in time, to prevent rheumatism and its relapses.

A correct regimen of physical activity and nutrition is necessary. At the same time, the sport should not be difficult or involve competition. You should lead an active lifestyle and do not overload your child with mental work. Morning exercises should be included in the daily “rituals,” which parents can do together with their child, setting an example of the correct lifestyle. The most favorable sports are swimming, cycling and walking.

Advantages of SM-Clinic

• Our pediatricians and cardiologists are among the best in St. Petersburg.
• Diagnostics are carried out using modern equipment.
• There are no queues.
• The diagnosis is made in a short time, and the most effective treatment in a particular case is prescribed.

Make an appointment at the first sign of acquired heart disease in your child. SM-Clinic will do everything to ensure that he quickly and permanently returns to a healthy life.

Sources:

1. A.N. Kalyagin. Features of the management of patients with rheumatic heart disease and chronic heart failure // Modern Rheumatology, 2009, No. 3, pp. 24-29.
2. R.K. Georgikia, G.I. Kharitonov. Modern aspects of diagnosis and treatment of acquired heart defects // Kazan branch of Apteka-Holding CJSC, 2003, No. 2, pp. 25-26.
3. E.I. Kinoshenko. Emergency conditions for acquired heart defects // Emergency Medicine, 2013, No. 4(51), pp. 9-24.

The information in this article is provided for reference purposes and does not replace advice from a qualified professional. Don't self-medicate! At the first signs of illness, you should consult a doctor.

UN Convention on the Rights of Persons with Disabilities

The WHO Department of Public Health and Environment works across a range of activities and develops interventions to address the environmental and social determinants of child development. These include: children's unique vulnerability to indoor and outdoor air pollution, water pollution, lack of basic hygiene, toxic compounds, heavy metals, waste components and radiation; mixed influence of factors related to the social environment, professional activity and nutrition, as well as the living conditions of children (home, school).

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Causes of fetal pathologies: what affects the birth of children with genetic abnormalities

Factors contributing to the birth of children with genetic abnormalities include:

1. Genetic predisposition . Genes are information inherited from both parents. Indicators such as height, eye and hair color are determined. In the same way, various deviations are laid down if both or one of the parents has a damaged gene. This is why close relatives are prohibited from marrying. After all, then the likelihood of bearing a fetus with a genetic pathology increases. With a partner who has the opposite genetic makeup, you are more likely to give birth to a healthy baby.
2. Age of parents
   . The risk group includes mothers over 35 years of age and fathers over 40 years of age. With age, immunity decreases, chronic diseases arise, and a woman’s immune system simply “will not notice” genetically damaged sperm. Conception will occur, and if a young woman’s body itself rejects the defective fetus, the pregnancy of an older mother will proceed more calmly.
3. Mom's bad habits
   . Almost 90% of pathological pregnancies occur with oligohydramnios. In a smoking woman, the fetus suffers from hypoxia; the breakdown products of aldehydes (alcohols) in the early stages of pregnancy lead to mutations and abnormalities. In 46% of cases, alcoholics have children born with genetic pathologies. Alcohol also “breaks” genetic chains in fathers who like to drink.
4. Infections
   . Diseases such as influenza, rubella, and chickenpox are especially dangerous. The fetus is most vulnerable until the 18th week, until the amniotic sac is formed. In some cases, a woman is offered an abortion.
5. Taking medications
   . Even regular chamomile tea is toxic for a pregnant woman. Any medication taken should be accompanied by consultation with a doctor.
6. Emotional turmoil
   . They cause the death of nerve cells, which invariably affects the development of the fetus.
7. Bad ecology and climate change
   . If you become pregnant while on vacation in Thailand, there is a chance that along with your pregnancy you will bring a dangerous infection, which will begin to develop slowly in your native land, affecting the health of the baby.

Narrowing of the aortic tunnel (coarctation of the aorta)

Aortic narrowing is a congenital heart defect diagnosed in approximately 5-10% of newborns with abnormalities in the structure of the heart. This is a partial closure of the aortic light within the subclavian artery on the left. It is important to note that this heart defect is diagnosed much more often in boys than in girls. Coarctation of the aorta in children takes the form of a narrowing along a long section of the main artery. At the same time, it is also accompanied by other heart defects indicating hypoplasia of cardiac structures (for example, bicuspid aortic valve, mitral valve stenosis, hypoplasia of the aortic arch). Among the consequences of this heart defect are ischemia of the lower half of the body, necrotizing enterocolitis, and renal failure. Aortic narrowing is usually accompanied by tachycardia, shortness of breath and liver enlargement. Characteristic symptoms of this heart defect:

• Accelerated cardiac activity.
• Dyspnea.
• Fast fatiguability.
• Enlarged liver.
• Low urine production.
• Cold extremities.
• Metabolic acidosis.

Treatment requires immediate administration of prostaglandin E1, a hormone with vasodilating properties. In addition, it is necessary to reduce the degree of unpleasant symptoms that can threaten the child’s life, and sometimes implement artificial ventilation. Surgical treatment for this heart defect can be used no earlier than the child is 6 months old.