The myocardial fibrosis present in hypertrophic cardiomyopathy (HCM) can be detected in blood before the onset of clinical complications. This is the main finding of a study published in the New England Journal of Medicine, in which researchers from the research center Applied Medicine (CIMA) and the Clínica Universidad de Navarra -integrated in the network de research Cardiovascular (RECAVA) of the high school de Salud Carlos III- as well as scientists from Harvard University. The Spanish team was led by Dr. Javier Díez, director of the area of Cardiovascular Sciences at CIMA and Full Professor of Medicine at the University of Navarra.

HCM is the most common cardiac disease of cause Genetics , affecting 1 in 500 people and can lead to sudden death, ventricular arrhythmias, ventricular dysfunction and heart failure. There are two types of patients with HCM: those who present the mutation Genetics that causes it but do not yet have thickened myocardium (preclinical stage disease); and those who, in addition to the mutation, present thickening (clinical stage disease).

Myocardial fibrosis is a characteristic lesion of HCM, which contributes decisively to development its clinical complications. It has long been thought that fibrosis developed when the left ventricular wall was already thickened, but programs of study animals show that fibrosis occurs earlier. Anti-fibrotic treatments are available at development, which can prevent the appearance of clinical complications, so early detection of myocardial fibrosis is essential.

Detect PICP in the blood to identify HCM and myocardial fibrosis.

"The study consisted of analyzing various blood biomarkers related to fibrosis in three groups of subjects: healthy people, patients with HCM in the preclinical phase, and patients with HCM in the clinical phase," explains Dr. Díez. The researchers found that the concentration of one of the biomarkers, the so-called procollagen C-terminal propeptide subject I (PICP), was abnormally elevated in patients with HCM, even in those who were still in the preclinical phase.

The application internship lies in the fact that detection of this propeptide in blood will allow diagnosis of patients with preclinical HCM and myocardial fibrosis, as well as assessment of the severity of fibrosis in subjects with clinical HCM. In addition, the diagnosis of fibrosis by PICP is more accurate than with imaging methods. It will also allow individualizing the indication of antifibrotic therapies aimed at preventing clinical complications.

"This work, published in the New England Journal of Medicine, is aimed at improving the diagnosis and treatment of patients and represents a clear example of translational research carried out through the partnership of scientists from the Universities of Navarra and Harvard," explains Dr. Díez.

Complete study (pdf)