A team of international researchers has identified developments in the diagnosis and treatment of Endomyocardial Fibrosis (EMF), an incurable heart disease of unknown origin that mainly affects children and young people in the tropical regions of Africa, Asia and South America, and which has now reached Europe.

According to the study led by Paulo Correia de Sá, a RISE-Health researcher, and professor at the School of Medicine and Biomedical Sciences of the University of Porto (RISE-Health/ICBAS-UP) the incidence of the disease in these regions and its relationship with poverty are known, however, it is necessary to explore ‘the genetic and environmental (epigenetic) factors that may explain the global distribution of the disease,’ reads the article published in the renowned journal Nature Reviews Cardiology.

Currently, population screening and the initial diagnosis of Endomyocardial Fibrosis (EMF) in endemic regions, such as the underdeveloped areas of Sub-Saharan Africa, ‘is based on clinical characteristics and specific echocardiographic criteria, taking into account economic restrictions and access to healthcare, the sociodemographic characteristics of patients, the health literacy of those involved and the stratification of the risk of the disease in relation to triggering factors.’

Besides reviewing the epidemiology and the most recent advances in the diagnosis and treatment of EMF, the study uncovers new molecular targets associated with the pathophysiology of the disease, which has already led to changes in the clinical approach and whose development could lead to the emergence of early non-invasive biomarkers, as well as the discovery and/or reconditioning of drugs capable of modifying the natural course of Endomyocardial Fibrosis. This process will allow the development of a better diagnosis and treatment of the pathology and, consequently, an improvement in ‘patient survival, avoiding the need to undergo endocardiectomy, a very demanding and difficult cardiac surgery in that context’, explains the specialist.

According to the RISE-Health researcher, ‘the improvement in socio-economic and health conditions in developing countries has contributed to the decline of the disease in certain endemic regions,’ and it is necessary to focus on combating these factors.

The article “Endomyocardial fibrosis: recent advances and future therapeutic targets” was led by Paulo Correia de Sá, RISE-Health researcher and professor at the School of Medicine and Biomedical Sciences of the University of Porto (RISE-Health/ICBAS-UP). Specialists Ana O. Mocumbi, Viviane Tiemi Hotta, Gene Bukhman, Ntobeko Ntusi and Magdi H. Yacoub also authored the study.