Congenital heart disease

Congenital heart defects are a group of diseases characterized by the presence of structural alterations of the heart produced by defects in its formation during the embryonic period.

In the vast majority of congenital heart diseases, there is a multifactorial cause and at the moment not known, with rare cases linked to a single specific genetic mutation. The possibility of transmission to the offspring or repetition of another congenital defect in a child is generally low and ranges between 3% and 5%, although it can vary significantly depending on the specific type of heart disease.

They appear in approximately 1% of live newborns, with an almost uncountable number of different congenital heart defects, so it is necessary to classify them:

• Shorts left right. They are those in which a defect occurs in the cardiac structures that separate the systemic from the pulmonary circulation, causing the passage of blood from the first to the second. In this group we find interatrial communication, ventricular septal defect, and persistent ductus arteriosus, among others.
• Obstructive injuries. They make it difficult for blood to flow out of the heart chambers. These include aortic and pulmonary stenosis and aortic coarctation.
• Cyanotic congenital heart disease. They prevent adequate oxygenation of the blood that reaches the tissues, which is why cyanosis (bruising of the lips or nail beds) appears. The most frequent are transposition of the great vessels, tetralogy of Fallot and Ebstein’s anomaly.

Given their large number, the symptoms associated with them are highly variable, ranging 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.

They must be suspected when suggestive symptoms appear (heart failure, cyanosis …) or when characteristic alterations are detected on physical examination (murmurs, arrhythmias …). The most banal ones can go unnoticed until adulthood.

Regarding heart murmurs, it is important to know that not all murmurs are caused by congenital heart disease, since the so-called functional or innocent murmurs appear in normal hearts and do not have any negative implications.

Concerning diagnostic tests, congenital heart defects 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.

Treatment, when required, is usually surgical. In some cases, the alteration can be corrected with a single surgical intervention, but in more complex congenital heart defects, more than one operation may be necessary. With the development of new technologies, many procedures can be performed percutaneously using punctures, without the need for open surgery.

After surgery, many patients with congenital heart defects remain completely asymptomatic. However, it is essential to carry out follow-ups at the cadiological level at least annually in order to prevent and detect the possible appearance of evolutionary complications.

Advances in diagnosis and treatment have greatly improved the prognosis, so that more than 90% of affected children currently survive to adulthood, and in most congenital heart diseases the average life expectancy is practically comparable to that of general population.