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Congenital heart disease: what they are and how to treat them

The congenital cardiopathies are a group of diseases characterized by the presence of structural alterations of the heart produced by defects in the formation of the same during the embryonic period. About 1 in every 100 babies is born with a structural heart problem, which is called congenital heart disease. These affected babies may have symptoms from the first days of life, although sometimes the heart disease does not show up until much later. For this reason, it is common to find asymptomatic children, who apart from the heart murmur, as well. In contrast, others may have symptoms that can be confused with other diseases or disorders.

Heart

What symptoms can alert to congenital heart disease in babies?

In the newborn, the symptoms that can make suspect that the baby suffers from an important heart disease are:

– Difficulty feeding.

– Rapid breathing.

– Blue or purple lips (cyanosis).

– Growth retardation.

In a child or adolescent, the most significant symptoms are:

– Fatigue.

– Difficulty to exercise or practice physical activities.

– Chest pain.

A heart disease that is not inherited

Science has not yet been able to determine what the causes of congenital heart disease are. Although some parents may have more than one child with heart disease, in most cases, they are not considered hereditary and, in most cases, children with congenital heart disease do not have known risk factors. However, congenital heart diseases are associated with chromosomal abnormalities, such as the trisomy of pair 21 (Down syndrome) and are linked to specific genetic abnormalities. Babies with other birth problems can also have congenital heart disease. They appear in 8 out of every 1,000 live newborns, there are an almost uncountable number of different congenital heart diseases, so it is necessary to classify them:

Short-circuits left right. They are those in which there is a defect in the cardiac structures that separate the systemic circulation from the pulmonary, resulting in the passage of blood from the first to the second. In this group, we found interauricular communication, interventricular communication and persistent duct arteriosus, among others.

Obstructive lesions. They impede the exit of blood from the cardiac cavities. Among them are aortic and pulmonary stenosis and aortic coarctation.

Cyanotic congenital cardiopathies. They prevent the adequate oxygenation of the blood that reaches the tissues so that cyanosis appears (bruising of the lips or nail beds). The most frequent is the transposition of large vessels, the tetralogy of Fallot and the Ebstein anomaly.

Given their large number, the symptoms associated with them are very variable and range from those that are asymptomatic and do not require specific treatment to those that cause severe symptoms and require surgical correction during the first weeks of life. It is necessary to suspect them when suggestive symptoms appear (heart failure, cyanosis …) or when characteristic alterations are detected in the physical examination (murmurs, arrhythmias …). The banalest can go unnoticed until adulthood. In relation to heart murmurs, it is important to know that not all murmurs are produced by congenital heart disease since the so-called functional or innocent murmurs appear in normal hearts and do not have any negative implications.

Regarding diagnostic tests, congenital heart diseases usually produce alterations in the electrocardiogram and chest radiography, but the fundamental diagnostic test is echocardiography, which allows diagnosing and evaluating the severity of most of them. Sometimes cardiac catheterization may be necessary. The treatment, when necessary, is usually surgical. In some cases, the alteration can be corrected with a single surgical intervention, but in more complex congenital heart diseases it may be necessary to perform more than one operation. Advances in diagnosis and treatment have greatly improved the prognosis so that currently more than 80% of affected children survive to adulthood.

There are more than fifty different types of congenital heart disease. They can be classified in:

  • Those that produce left-right shunts (passage of blood from the systemic circulation to the pulmonary circulation), among which are interventricular communications and atrial septal defects. The persistent ductus arteriosus and the patent foramen ovale are also included in this group. Those that produce obstruction to the blood flow, among which the aortic coarctation stands out.
  • Cyanogenas congenital cardiopathies, in which the abnormal blood flow goes from the pulmonary to the systemic circulation, passing non-oxygenated blood adequately to the tissues, causing what is known as cyanosis (by the purplish colour of the lips and nail bed). In this group, we will talk about the best known, which are the tetralogy of Fallot and the transposition of large vessels (which can be seen in another section).  

Ventricular communication (VSD)

Patients with interventricular communication have a hole that communicates the two ventricles. It is the most frequent congenital heart disease at birth. There are several types of VSD, depending on their location within the interventricular septum: the membranous or perimembranous VSD are the most frequent (located near the tricuspid valve); followed by muscular VSD (located in the muscular septum). Another type of more rare CIV is the subpulmonary VSD and the channel-like VSD.

Symptoms:

In general, the symptoms will not depend on the location of the defect but on the size of the IVC hole. When the communication is small, it does not usually produce symptoms; if it is large it can cause dyspnea (shortness of breath), heart failure and inadequate growth in the first months of life.

Diagnosis

The diagnosis is suspected by the clinic and the physical examination (a very characteristic heart murmur is heard). The diagnosis is confirmed with the echocardiogram, with which the location, number and size of the VSD can be visualized. Every day, about 10 children are born with congenital heart disease, the congenital pathology that most affects newborns in our country. It is estimated that they affect 1% of the population, but not all are equal or treated in the same way. What they do have in common is that advances in their diagnosis and treatment have improved both the prognosis that currently more than 80% of affected children survive to adulthood. A prevalence of congenital heart disease is estimated at 0.8% of the population at birth and 0.3% in the adult population. This means that for the current population of 46 million, of which 30 million are 18 or older, the estimated number of adults with congenital heart disease would be around 120,000.

What are they?

The congenital cardiopathies are a group of diseases characterized by the presence of structural alterations of the heart produced by defects in the formation of the same during the embryonic period.

How many types of congenital heart disease are there?

There are more than fifty different types of congenital heart disease but they can be classified into three major groups:

– Short circuits left right. They are those in which there is a defect in the cardiac structures that separate the systemic circulation from the pulmonary, resulting in the passage of blood from the first to the second. In this group are interauricular communication, ventricular septal defect and persistent ducts arteriosus, among others.

– Obstructive lesions. They impede the exit of blood from the cardiac cavities. Among them are aortic and pulmonary stenosis and aortic coarctation.

– Cyanotic congenital heart disease. They prevent the adequate oxygenation of the blood that reaches the tissues, which is why cyanosis appears (bruising of the lips or nail beds) when the venous blood is mixed with the arterial blood. The most frequent is the transposition of large vessels, the tetralogy of Fallot and the single ventricle.

Which treatment is the most appropriate?

The symptomatology depends on the type of heart disease that we are talking about, so the manifestation of heart disease is very variable. So much so that in some cases they are asymptomatic and do not require treatment – the banalest can go unnoticed until adulthood – while in others they cause severe symptoms and require surgical correction during the first weeks of life.

It is possible to suspect that it is possible that there is congenital heart disease when there are suggestive symptoms (heart failure, cyanosis …) or when characteristic alterations are detected in the physical examination (murmurs, arrhythmias …). Regarding cardiac murmurs, it should be noted that not all are produced by congenital heart disease since the so-called functional or innocent murmurs appear in normal hearts and do not have negative implications. The treatment of congenital heart disease, when necessary, is usually surgical. In some cases, the alteration can be corrected with a single surgical intervention, but in more complex congenital heart diseases it may be necessary to perform several surgeries.

How are they detected?

Congenital heart diseases usually produce alterations in the electrocardiogram and chest radiography, but the fundamental diagnostic test is echocardiography, which allows diagnosing and evaluating the severity of most of them. Sometimes cardiac catheterization may be necessary. Most are diagnosed before delivery, in the routine studies that are performed on all pregnant women. However, some congenital heart diseases are only detected at birth or soon after.

Tom Sanders, of famous website universitydegree.education studied business and engineering at the New York Maritime College. His passion lies in educating, entertaining and empowering anyone who wants to learn.

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