It is possible to predict the evolution of your heart disease, adopt preventive treatment to delay or avoid future complications and reorient your sports and professional activity.

If a young relative dies suddenly from heart disease, it's natural to want to know its cause and whether other family members might be at risk of the same problem. This way, potential future complications can be delayed or avoided. This is the service offered by Hospital La Luz since it established the Adult Familial Cardiomyopathy Unit last November . The unit, led by clinical cardiologist Marcos García Aguado , is responsible for identifying the genetic mutations that cause the development of heart conditions known as familial cardiomyopathies, as well as advising on and establishing the appropriate therapy.

Pathologies that develop due to alterations in DNA and can be inherited by different members of the same family. This capacity for transmission to offspring leads specialists to study, not only the individual, but families and thus detect other possible affected people.

Familial heart diseases cause different types of alterations in heart function. These can be structural (affecting the heart both macroscopically and microscopically) or affect its electrical activity, as in the case of channelopathies. As Dr. Marcos García Aguado, the cardiologist in charge of the unit, explains, these heart diseases are often discovered when patients come to the clinic after the death of a close relative. "We had the case of a person who died suddenly. It was confirmed that they had a structural heart disease, and we have already identified five family members." In these cases, family members are advised on how to undergo genetic testing to confirm whether or not they carry the genetic alteration, which does not necessarily mean they will develop the disease. These genetic studies are carried out at the Health Diagnostics laboratories, a specialized unit of the Quirónsalud group that manages clinical diagnostic services. "If we see that the family member does not have the mutation of the main case, then we know that they will not develop the pathology and therefore the patient does not need to continue with check-ups, thus relieving them of stress and anxiety," the specialist indicates.

The identification of this alteration can also predict its evolutionary development, as well as establish a series of measures or treatments to delay or avoid future complications, even before the development of symptoms. "One of the five patients has been fitted with a defibrillator, an implanted device to prevent the risk of arrhythmogenic death when a series of requirements are met." Another of its applications is to offer advice in relation to family planning or about your sports or professional activity. «There are some diseases – explains Dr. García Aguado – from the group of familial heart diseases where intense physical activity should not be recommended. This means that the activity of some people or even their profession must be oriented and the earlier we do it, the better.

Identification of the genetic alteration is not always possible, although the success rate varies depending on the type of familial heart disease. According to Dr. Marcos García Aguado, “in these cases we have to follow up on all the family members. Even if the mutation has not been identified or is of uncertain significance, the rest of the family members must continue to be studied from a clinical point of view and through imaging techniques. As well as monitoring until old age, both the index patient, the one who comes with the disease, and the rest.

This service at La Luz Hospital comprises two parts: the adult familial cardiomyopathy unit and the pediatric unit , directed by pediatric cardiologist Constancio Medrano , who focuses on children. It is integrated within the cardiology department, headed by Dr. Roberto Martín Reyes . "This allows our colleagues who conduct general cardiology consultations to identify patients who may be candidates for a family history study or who may have a familial cardiomyopathy and refer them to the unit," explains García Aguado. The unit was established last November, and it is still too early to provide data on health outcomes for these patients. However, with this service, Dr. Aguado states, "we are moving closer to excellence because genetic testing must be offered to patients for whom it is indicated. This also allows us to better treat certain conditions and anticipate problems by providing patients and their families with important recommendations."