They identify for the first time the risk of dilated cardiomyopathy in genetic carriers.

They identify for the first time the risk of dilated cardiomyopathy in genetic carriers.freepick

dilated cardiomyopathya disease in which the heart increases in size and loses its ability to pump blood, is the most common cause of heart failure in young people and the leading cause of transplantation worldwide. In addition, these patients usually suffer arrhythmias and sudden death.

In approximately 30-40% of patients, the disease is due to a genetic change. In these cases, the patient’s relatives can be studied to determine whether they have inherited the genetic change.

Relatives who inherited a genetic change have increased risk of developing the disease in the future and this is why periodic screenings are recommended to determine when they develop heart disease and when they should begin pharmacological treatment to treat the disease.

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However, it is unknown How often do family members with genetic carriers develop the disease?at what age it will be triggered and whether there are factors that will help identify those who will develop the disease in the short term and therefore need more careful monitoring.

Now, a study led by Pablo García-Pavia, a researcher at the National Center for Cardiovascular Research (CNIC) and leader of the CIBER Group in Cardiovascular Diseases (CIBERCV), has for the first time established the possibility of dilated cardiomyopathy in patients with cardiovascular disease. genetic changes that cause the disease.

Data of more than 779 people

In a study published in the journalJournal of the American College of CardiologyThe study involved 25 Spanish hospitals and collected data from more than 779 people from 300 different families who were carriers of the genetic variation but had no evidence of the disease.

The researchers found that after an average follow-up of 37 months The disease developed in almost 11% of carriers.

The study also found that the progression of the disease varied depending on the type of genetic changes that patients had.

“We found that patients who developed the disease were more likely to have certain specific characteristics, such as older age, changes in the electrocardiogram, and a larger heart with less pumping force, although within normal limits,” Garcia-Pavia explains.

“Patients with genetic changes in sarcomeric genes or those who have fibrosis on cardiac MRI. were at greater risk of developing cardiovascular disease“, Add.

For his part, the cardiologist at the Puerta de Hierro Hospital and the first signatory of the document, Eva Cabrerabelieves that these results will allow for more personalized monitoring of genetic carriers who do not show signs of the disease.

Until now, surveillance of carrier patients has consisted of annual or biennial reviews, but now “We will be able to personalize subsequent visits. For example, distribute them for those patients who do not have risk parameters, and, on the other hand, reduce them for those who have signs of increased risk,” says Cabrera.