There is an unmet medical need of finding reliable methods for the diagnosis of calcific aortic valve disease (CAVD) at the early stages. CAVD is a chronic disorder typified by ectopic mineralization and fibrosis of the aortic valve (AV), which may progress to the stage of aortic stenosis (AS). Untreated severe AS leads to heart failure, with valve replacement remaining the only available treatment. CAVD is an active process that shares mechanistic features with atherosclerosis. Approximately 2–4 % of people aged over 65 will develop CAVD, and 25 % of individuals in this age group with disease symptoms, have a 50 % increased risk of cardiovascular-related events. Moreover, there is an associated risk of 80 % of progression over 5 years, to heart failure, aortic valve replacement, or death. The early diagnosis of CAVD by detecting aortic valve calcification would improve the patient’s clinical management.
High-resolution imaging is currently the ‘gold standard’ for early diagnosis of valve calcification. However, this technology is very expensive and time-consuming and not all patients have access to it as this highly specialized service is not available everywhere. Moreover, it requires an expert in the field to interpret the images and make a report. The use of biological markers could complement imaging modalities to detect early changes, especially early calcification.
Spanish researchers have identified six differentially expressed genes, four of which were specific for aortic valve calcification and found to predict subclinical disease in addition to calcific aortic valve disease. This analysis, therefore, identified a gene expression signature in the blood that is highly predictive of valve disease and aortic valve calcification in otherwise healthy individuals.
These blood-based biomarkers with predictive potential are an important step in the clinical management of CAVD. They could improve the diagnosis of exclusion of CAVD in the emergency department or health centers (before seeing the cardiologist) and avoid late diagnoses with severe ventricular dysfunction so that they will arrive in better conditions for surgery. Therefore, these biomarkers will help predict disease as well as improve prognosis, subclinical disease management, and risk stratification and thus reduce disease-associated morbidity and mortality.
The research center is seeking to establish a license agreement with biotechnology or diagnostics companies interested in cardiovascular diseases, working on proteins and antibodies commercialization or tests or kits for genetic diagnosis.