A congenital malformation is a malformation present at birth. Of these malformations, the most frequent are those that affect the heart and are called congenital heart disease. They occur in less than 10 subjects per 1000 live births.
At least half of those affected will need a special diagnostic study or urgent treatment in the first year of life. The etiology, why these heart diseases appear, is the subject of research and molecular genetic techniques have made it possible to discover the genetic origin of several syndromes or heart diseases.
How are they detected?
In cardiology, the detection of congenital heart disease should begin, in the hospital environment, from the fetal period. To observe alterations in the fetal heart, the appropriate technique is echocardiography and Doppler, which allows visualization of the fetal heart and arteries in movement through the abdominal structures of the mother. The presentation of congenital heart disease varies from birth to the first weeks of life, presenting cyanosis, shock or pulmonary hyperflow. All of these are assessed by pediatricians and pediatric cardiologists exclusively in the hospital setting.
What is a heart murmur?
The sign that triggers family concern and leads to the greatest number of cardiology evaluations is the presence of a heart murmur. A heart murmur is caused by the presence of turbulent blood flow in a heart valve or vessel. Fortunately, the presence of a murmur, detected by auscultation, does not presuppose the existence of heart disease. The cardiologist’s job is to know the patient’s clinical history, from gestation onwards, to use auscultation to detect the murmur and its characteristics, to use the different techniques: Electrocardiogram, Echocardiogram and color coded Doppler and radiological examination to decide if the murmur is a translation of a heart disease or if it is simply an innocent murmur that is not produced by a malformation. The frequency of an innocent murmur is close to 50% of cases considering all pediatric ages. Adolescents and adults with congenital heart disease Adolescents and adults with congenital heart disease could be separated into three groups:
1. Carriers of minor congenital heart disease such as pulmonary stenosis, small septal defects, bicuspid aorta, etc. Many cases were not detected at birth and are discovered later.
2. Patients with severe heart disease who were not treated with surgery in childhood due to family rejection or other reasons and who have survived for years.
3. Patients who were opportunely treated with surgery but who sometimes present residual lesions or sequelae. Echocardiography associated with Doppler examination with color coding is the fundamental tool for the evaluation of these cases from an anatomical and functional point of view and, thus, to proceed with the follow-up of their evolution.
Complications
In addition to establishing the most accurate diagnosis possible, it is very important to assess complications:
– One of them is called cyanosis. This is a purplish coloration of the skin produced by the mixture of arterial and venous blood in the malformed area, which favors the increase of red blood cells and, therefore, the production of thromboembolic episodes.
– A dangerous infection is bacterial endocarditis, which occurs in 8% of patients with congenital heart disease. It can be caused by maxillofacial or dental treatment, upper respiratory tract infections, genitourinary surgery or abortion. The solution is to recommend a preventive medical guideline depending on the case.
– Atrial or ventricular arrhythmias are a serious problem and are caused by the anatomical malformation itself or by surgical scars. They must be treated because they deteriorate the patient’s functional capacity. For this, we have electrophysiological studies that investigate the area of origin, the administration of antiarrhythmic drugs or the technique of ablation or pacemaker implantation as appropriate.
– Pulmonary arterial hypertension occurs when there is an overload of blood flow in the pulmonary artery due to short circuits or anomalous vascular connections and should be treated medically according to its repercussions.
Patients with congenital heart disease, whether it was discovered in childhood or later in puberty or adulthood, whether it has been surgically corrected or not, should see a cardiologist periodically to evaluate its situation and progression. It is very important to prevent complications such as bacterial endocarditis or to treat possible arrhythmias or pulmonary hypertension in order to improve functional capacity and access to wellness.