Scientists develop a tool to determine if dilated cardiomyopathy has a genetic origin

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Scientists develop a tool to determine if dilated cardiomyopathy has a genetic origin
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Scientists at the CNIC and Hospital Universitario Puerta de Hierro in Majadahonda have developed a software application that predicts the likelihood that a case of dilated cardiomyopathy is caused by a genetic mutation. The research was carried out in collaboration with hospitals in Spain, Italy, and the Netherlands. The findings, published in the Journal of the American College of Cardiology, will allow physicians to adjust the treatment of dilated cardiomyopathy patients appropriately and to identify family members who have also inherited the disease. The software application is available online.

Nevertheless, in many places in the world, dilated cardiomyopathy patients do not undergo routine genetic screening due to the considerable cost of this procedure, which gives a positive result in only one in every three patients.

The new study was led by cardiologist Dr. Pablo García-Pavía of Hospital Puerta de Hierro, who is also a research scientist at the CNIC and in the Spanish cardiovascular research network . The study analyzed the clinical characteristics, electrocardiograms, and echocardiography data of a group of 1,015 dilated cardiomyopathy patients who underwent genetic screening at 20 Spanish hospitals.that were more frequent in patients in whom the disease was caused by a genetic mutation.

The researcher team verified the predictive ability of the tool in an independent group of 1,097 dilated

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