Spanish researchers provide new clues about one of the most common types of genetic dilated cardiomyopathy

PARIS, August 29 (Benin News) –

Research by Spain’s National Center for Cardiovascular Research (CNIC) and Puerta de Hierro de Majadahonda University Hospital (Madrid) has provided new clues regarding one of the most common types of genetic dilated cardiomyopathy, caused by mutations of the myosin heavy chain gene (MYH7).

Knowing the particular characteristics of the different genetic subtypes of dilated cardiomyopathy is the first step towards individualized treatment of patients with this disease, according to the researchers of this study, led by Dr. Pablo García-Pavía, cardiologist at the hospital. Puerta de Hierro and researcher at CNIC and CIBER de Enfermedades Cardiovasculares (CIBERCV).

Dilated cardiomyopathy is the most common cause of heart failure in young people and the leading cause of heart transplantation worldwide. It is characterized by enlargement of the heart and a decrease in its ability to pump blood. Patients with the disease also frequently suffer from arrhythmias and sudden death.

Errors in the genetic code of DNA are responsible for inherited diseases that affect members of the same family with the disease. These mutations cause approximately half of the cases of dilated cardiomyopathy.

Knowing that dilated cardiomyopathy is due to a genetic alteration makes it possible to better adapt the treatment of patients, as well as to identify if other family members have also inherited the disease and should be followed.

This collaborative study gathered information from 147 patients and parents with mutations in the MYH7 gene and involved 40 centers in 10 countries, making it the most ambitious project to date to treat this disease.

This effort has made it possible to describe some particular characteristics of dilated cardiomyopathy caused by alterations in this gene, the researchers report.

First of all, a significant proportion of patients with this genetic alteration (16%) develop the disease in childhood, unlike other forms of dilated cardiomyopathy, which almost always appear at a later age (40-50 years).

“This information makes it advisable to monitor the children of patients with this disease from an early age,” says Dr. García-Pavía.

In addition, Spanish researchers found that the responsiveness to drug treatment in this type of dilated cardiomyopathy is lower than in other genetic types but that, nevertheless, sudden death, the most feared complication of this disease, occurs. in few cases compared to other types and only in cases of advanced disease.

For Dr. Fernando de Frutos, cardiologist at Puerta de Hierro Hospital and first author of the study, “these types of collaborative projects are essential to understand the mechanism by which genetic mutations cause heart failure and to offer treatment. personalized to these patients and their families”.

Specific treatments for dilated cardiomyopathy caused by mutations in this gene are currently being investigated, therapies that might represent a turning point in modifying the course of this disease.