What cardiac pathologies are hereditary?
The cardiac pathologies can be classified into two large groups. A first group are the so-called cardiomyopathies , or structural diseases of the heart, which include dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic myocardiopathy of the right ventricle. And a second group are those diseases that affect the ion channels of action potential also called channelopathies. These channelopathies are the Brugada syndrome, the long qt and short qt syndrome, and the catecholaminergic ventricular tachycardia.
Can you fight against that genetic inheritance?
These pathologies the problem they have is that the diagnosis is often difficult. You have to perform tests such as echocardiography, electrocardiogram, stress test or Holter, but there are times when these tests do not reach a conclusive diagnosis and we have to carry out more in-depth tests such as genetic studies, which allow us to reach a definitive diagnosis. It is very important to make the diagnosis of 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. Therefore, it is important to arrive at an early diagnosis to separate this small population group from the sport and thus avoid such tragic events.
What care should the patient follow with a hereditary heart disease?
Patients with hereditary heart disease the most important thing we have to do is study the family , because it is not a patient who is sick is a whole family who is sick. So we have to know which subjects look like the disease and which ones do not. That's why the diagnosis is fundamental. The treatment of each disease and each hereditary heart disease is different since they are diseases with different characteristics. For example in some cases it will simply be to remove them from sport, in other cases to administer beta-blocker medication. In some more severe cases, place defibrillators. And this will depend, as I said, on each pathology.
What role do genetic studies have in these pathologies?
Genetic studies in these pathologies have a very important role. 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 because if these studies were not done, these patients would have to be monitored clinically until they were 40 or 50 years old.