What are congenital heart diseases

By Cristiano Antonino Last updated Jun 20, 2023

Congenital heart disease: with the term congenital, we indicate something already existing at birth

By congenital heart disease, we are therefore referring to an alteration in cardiac structure or function that is present at birth and manifests its first symptoms early on, at conception and in the embryo-fetal phase.

However, it can also be discovered ‘late’; either during childhood, adolescence or in some cases even adulthood.

A congenital heart defect occurs when the heart and nearby blood vessels have not developed properly before birth; typically, the heart forms between four and ten weeks of pregnancy.

Congenital heart defects are among the most frequent malformations; they have an incidence of eight cases per 1,000 live births; in Italy, around 4,000 babies are born with congenital heart disease.

Studies have shown that if mothers are affected by a congenital defect, the incidence that their children may also have one is higher.

Cardiac malformations can be of various types, ranging from abnormalities affecting only one part of the heart to extremely complex abnormalities characterised by severe alterations in the cardiac structure.

Depending on the severity of the heart disease, there will be different health repercussions: some forms of heart disease do not cause any health problems and allow a normal life, while other forms of heart disease are incompatible with life.

Congenital heart disease, therefore, is neither incompatible with life nor a serious illness

Some congenital defects are so severe that without immediate medical and surgical intervention, they can lead to the death of the newborn within a few days.

We can classify congenital heart defects into: mild, moderate and severe.

The mild forms, are associated with an absence of symptoms and in most cases resolve spontaneously; the diagnosis can be made in neonatal-pediatric age or in adulthood, in which case we have a higher frequency of this type of heart disease.

The moderate forms, are those that involve non-intensive cardiological treatment at birth, or can be diagnosed after the first few months of life.

The incidence is rather low, 3 per thousand live births.

Severe forms of congenital heart disease are present from birth or within the first few months of life

Severe forms, which in turn can be subdivided into cyanotic forms, which give the skin a blue tinge, and noncyanotic forms.

The incidence is about 2.5 to 3 per thousand live births.

They are due to a shunt that channels oxygen-poor blood directly, without passing it through the lungs, into the large arterial circulation (aorta), which is usually rich in oxygen.

This heart disease sees the positions of the aorta and pulmonary artery reversed.

There are, among the various congenital heart defects, forms that are more frequent than others.

Among the most frequent forms are: the interventricular defect, which accounts for 28-32% of all congenital heart diseases, the interatrial defect, about 9%, the Botallo’s ductus pervio and aortic coarctation, about 8%, Tetralogy of Fallot, about 6%, complete transposition of the great arteries, about 5%.

Depending on the size, the interventricular defect can be classified into severe, moderate or mild forms; it is the most frequent heart defect and, in fact, affects around 30% of all patients with congenital heart disease; 85% of cases are mild forms that tend to close spontaneously in the first year of life.

Inter-atrial defect and patent foramen ovale are quite common and are among the mild forms of congenital heart defects; they can be present from birth, but are often not realised until adulthood.

The interatrial defect is characterised by the presence of a hole in the muscle wall separating the atria, the upper cavities of the heart, where there is usually blood flow from the right to the left atrium.

It is a defect that does not cause discomfort in children but sees the presence of symptoms in adulthood, such as shortness of breath, fatigue, alterations in normal heart rhythm, etc.

The femoral oval pervio is a passageway that abnormally connects the two atria and persists when there is no fusion of the two septa of the heart, which occurs immediately after birth.

Due to this passage, blood will pass from the right to the left atrium.

The femur oval pervio ‘affects’ about 15 million Italians, we could say it is a quarter of the population.

It becomes a health risk when the blood passing from the right to the left atrium carries blood clots which, if they reach the legs, can block the flow of blood in small arteries.

Diagnosis of congenital heart disease is based on clinical, radiographic and echocardiographic tests

Thanks to echocardiography, a non-invasive diagnostic method, the chances of diagnosing congenital heart defects, even during intrauterine life, have increased.

Acquired heart disease includes all diseases that develop after birth in a healthy born child.

They can manifest themselves as a disease directly affecting the heart and its parts (endocardium, myocardium, pericardium, coronary vessels) or as heart disease caused by diseases of other organs connected to the heart, such as the lungs.

Severe forms, whether cyanotic or noncyanotic, are diagnosed at birth or even during foetal life using ultrasound methods.

Moderate forms are generally diagnosed by the cardiologist after the first few months of life; mild forms, which may remain asymptomatic until adulthood, are diagnosed after the first symptoms appear and it is important to perform cardiographic tests; it may happen that the defect is highlighted quite incidentally, for example, with a simple echocardiogram.

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