Findings on one of the most common types of genetic dilated cardiomyopathy

Research provides revealing new data on one of the most common types of genetic dilated cardiomyopathy, that caused by mutations in the myosin heavy chain gene (MYH7).

The study is the work of an international team that includes scientists from the National Center for Cardiovascular Research (CNIC), the Center for Biomedical Research Network of Cardiovascular Diseases (CIBERCV) and the Puerta de Hierro University Hospital in Majadahonda (Madrid), all these entities in Spain.

Knowing the particular characteristics of the different genetic subtypes of dilated cardiomyopathy is the first step in treating patients with this disease individually, as pointed out by the research team led by Pablo García-Pavía, a cardiologist at Hospital Puerta de Hierro and a researcher of the CNIC and the 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 decreased ability to pump blood. Likewise, patients suffering from this disease frequently suffer from arrhythmias and sudden death.

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

Knowing that dilated cardiomyopathy is caused by a genetic alteration makes it possible to better adjust the treatment of patients, as well as to identify if other relatives have also inherited the disease and require follow-up.

Researchers Fernando de Frutos (left) and Pablo García Pavía have coordinated the study. (Photo: CNIC / CIBERCV)

This collaborative study has collected information from 147 patients and relatives with mutations in the MYH7 gene and 40 centers from 10 countries have participated in it, making it the most ambitious project to address this disease to date.

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

In the first place, a significant proportion of patients with this genetic alteration (16%) develop the disease in childhood, unlike other forms of dilated cardiomyopathy that practically always appear at older ages (40-50 years). “This information makes it recommendable to monitor the children of patients who suffer from this disease from an early age,” says Dr. García-Pavía.

In addition, researchers have found that this type of dilated cardiomyopathy is less responsive to drug treatment than other genetic types, yet sudden death, the most feared complication of this disease, occurs in few cases. compared with other types and only in cases of advanced disease.

For Fernando de Frutos, a cardiologist at Hospital Puerta de Hierro and first author of the work, “this type of collaborative project is essential to understand the mechanism by which genetic mutations cause the heart to fail and to offer personalized treatment to these patients and your families”.

Specific treatments for dilated cardiomyopathy due to mutations in this gene are currently in the research phase, therapies that could represent a turning point to change the evolution of this disease.

The results of this work have been presented at the European Congress of Cardiology, recently held in Barcelona. (Source: CNIC / CIBERCV)


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