The progress of genetic studies has allowed medicine to advance enormously in many fields.
Thus, no one imagines today that two cancer patients are treated with the same treatment.
However, it is something that does happen in cardiology, where all patients with concrete cardiomyopathy are the same.
At least, until now since a Spanish study, published in Journal of the American College of Cardiology, opens the door for the first time to individualized medicine in this specialty.
“It is the first study with sufficient entity and sufficient number of patients as if to see that personalized therapy in cardiology is a reality,” says Labor Coordinator, Pablo García-Pavía, group chief of Cyber of cardiovascular diseases (
CIBERCV) and director of the Family Cardiopathies Unit of the Hospital Gate Hospital of Majadahonda (Madrid).
Garcia-Pavia adds that it probably has not been done so far for the availability of samples.
“In cancer, when you operate a patient, the part of the tumor that you take care of you and you can see the molecular characteristics of tumors and try to see what drugs can kill those malignant cells. In cardiology, as the heart is not so accessible
Although it is an organ that causes the first cause of death in the world, the truth is that this personalized therapy had not arrived. ”
The study demonstrates that dilated myocardiopathy of genetic origin has a worse prognosis.
What does this mean?
It is a heart disease that consists is that this organ becomes bigger (the left ventricle dilates) and has difficulty pumping blood.
It can be caused by an infarction (ischemic) or by many other causes (non-ischemic) such as alcohol, chemotherapy, an inflammation maintained over time … it is the most frequent cause of transplantation in the world and the most frequent cause of insufficiency
cardiac in young people.
In addition, patients who suffer from them have a higher risk of sudden death, hence their importance.
In recent years it has been known that of non-ischemic, between 40% and 50% are due to a genetic anomaly, but outside of which genetic alteration (or if it was another the cause of the disease)
Patients were treated.
This work has shown that patients in whom the disease is due to any genetic alteration “evolve worse, have more arrhythmias, more deaths due to heart failure and when analyzing how they respond to medications we saw that they were less likely to recover pumping capacity
Of Blood Of The Heart, “explains Garcia-Pavia.
The study has also identified that according to what is the altered gene, the prognosis is different.
There are more than 40 different genes than if they suffer alterations can lead to dilated cardiomyopathy.
“Until now there was not a study that tells us that if you have an altered a gene, you will have worse evolution than if it is altered another different, it does conceptually look a little obvious, but in cardiology this approach had not arrived until now,” says García-Pavía
.
The cardiologist puts an example: “In the study it is seen that patients who have genetic alterations in genes whose proteins that are in the cell core membrane have many arrhythmias and have sudden death long before people who have a delayed cardiomyopathy for
Alterations in other genes whose proteins are somewhere else. From now on these patients we will have to raise a defibrillator soon, before others who have other genetic alterations or do not have genetic alterations, we can not wait as we habitually see if
They progressed and if they had arrhythmias because perhaps at the next time I have to see you, you do not see it because it has had a sudden death. ”
For the study, clinical data of 1,005 patients with dilated cardiomyopathy analyzed genetically analyzed from 20 Spanish hospitals, between 2015 and 2020, have been collected, between 2015 and 2020. In 372 of them (37%) the disease had a genetic cause and in 633 (63%). In the analysis of the evolution of the patients, the authors were particularly fixed in the development of heart failure and arrhythmias, and in the ability to recover heart pumping. It is the largest study to date because other works had genetically analyzed patients with this pathology, but they did not have clinical data, that is, the evolution of these patients. “That’s why a collaborative work of 20 Spanish hospitals has been necessary. The good part we have in Spain is that we have a very good and homogeneous health, it is more uniform than the healing they can have in other countries. In large cities in the US Large hospitals, but not in the deep America. On the other hand, Spain has a very good and universal health network. That in Spain a job of this magnitude has been done in Spain also makes this study relevant, “says García-Pavia.
From here, they are already working on the next step, concrete medicines for each genetic subtype, “but that will not arrive before five years. It is what we are working now for the next 10-15 years. Knowing because depending on
of the genetic subtype the forecast varies, thanks to the application of genetic studies to this area of medicine, which will also identify us is for what groups of patients should design specific drugs because those patients, with what we have now,
is not sufficient”.
Is it applicable to other cardiac conditions? The work coordinator explains that it actually opens the way, but for other cardiac diseases they will need groups of even broader people because the differences between patients are not so large. “In our day to day we saw that the behavior is very heterogeneous in dilated cardiomyopathy, there are cardiopathies that, although they are due to different genetic alterations, the behavior is more similar in patients, there is not as much clinical variability. In dilated cardiomyopathy we see People who with little loss of strength in the heart have a sudden death and maybe others with a very deteriorated heart in terms of pumping capacity do not have problems of arrhythmias. That’s a lot of attention and that’s why this disease is good to do this Type of studies. In other cardiopathies, as in the hypertrophic, maybe you need many more patients because by being more homogeneous you need larger groups to demonstrate marked differences between them. ”
