Which cardiac pathologies are hereditary?
Cardiac pathologies can be classified into two large groups. The first group are the so-called cardiomyopathies, or structural heart diseases, which include dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy of the right ventricle. And a second group are those diseases that affect the ion channels of the action potential, also called channelopathies. These channelopathies are Brugada syndrome, long qt and short qt syndrome, and catecholaminergic ventricular tachycardia.
Is it possible to fight against this genetic inheritance?
The problem with these pathologies is that diagnosis is often difficult. It is necessary to perform tests such as echocardiography, electrocardiogram, stress test or Holter, but sometimes with these tests we do not reach a conclusive diagnosis and we have to perform more in-depth tests such as genetic studies, which allow us to reach a definitive diagnosis. It is very important to diagnose these pathologies since some of them can cause sudden death, being hypertrophic cardiomyopathy or arrhythmogenic cardiomyopathy the main causes of sudden death in young athletes. It is therefore important to reach an early diagnosis in order to remove this small population group from sport and thus avoid such tragic events.
What care should a patient with a hereditary heart disease follow?
In patients with hereditary heart disease, the most important thing we have to do is to study the family, because it is not a patient who is sick, it is a whole family that is sick. So we have to know which subjects have the disease and which do not. That is why diagnosis is fundamental. The treatment of each disease and each hereditary cardiopathy is different because they are diseases with different characteristics. For example, in some cases it will be simply to keep them away from sports, in other cases to administer beta-blocking medication. In some more severe cases, defibrillators may be used. And this will depend, as I have already said, on each pathology.
What is the role of genetic studies in these pathologies?
Genetic studies play a very important role in these pathologies. On the one hand they serve to confirm the diagnosis in the index case and on the other hand they serve to rule out the diagnosis in first-degree relatives. And this is especially important since if these studies were not performed these patients would have to be followed clinically until the age of 40 or 50 years.