A team of Spanish scientists has developed a computer tool that predicts the probability that dilated cardiomyopathy, the most common cause of heart failure among young people, is caused by a genetic mutation.
The application, already available to professionals, allows doctors to adjust treatment to patients and identify relatives who have also inherited the disease, reported the Efe agency.
A group of scientists from the National Center for Cardiovascular Research (CNIC) and the Puerta de Hierro Hospital in Madrid published the results of their research. in the Journal of the American College of Cardiology (JACC).
Dilated cardiomyopathy, the most common cause of heart failure in young people and the main indication for heart transplantation in the world, is characterized by an increase in the size of the heart and a decrease in its pumping capacity.
Patients are at high risk for arrhythmias and sudden cardiac death.
In about 30% of patients, it arises as a result of an inherited genetic mutation, but in many countries, patients are not routinely screened for genetic screening, due to the considerable cost of this procedure, which only shows a positive result. in one out of every three patients.
The study led by cardiologist Pablo García-Pavia, a researcher at the CNIC and Hospital Puerta de Hierro, analyzed the clinical characteristics, electrocardiograms, and echocardiograms of 1,015 patients with this disease who underwent genetic screening in 20 Spanish hospitals.
The results identified five parameters that were more frequent in patients in whom the disease was caused by a genetic mutation.
The combined score of these five parameters in a computer application, called the Madrid genotype score, allows patients to be classified according to the probability that their disease is due to an inherited genetic mutation.
“Among patients who tested positive for most parameters, it was more likely that the disease had a genetic cause,” explained Luis Escobar, another of the study’s authors.
However, among patients who were negative for the parameters or positive for only one or two, the probability was lower.
“A genetic cause was found in only 2% of patients who tested negative for all five parameters,” he added.
The researchers verified the predictive capacity of this tool in a group of 1,097 patients with dilated cardiomyopathy in Italy and the Netherlands.
Source: TSF
