This thesis investigates Endomyocardial Fibrosis (EMF), the commonest form of
restrictive cardiomyopathy affecting children and young adults from poor developing
countries. EMF is the second cause of admission for acquired cardiovascular disease in
these age groups in endemic areas and has an unclear etiology and pathogenesis. It has no
specific treatment and carries a poor prognosis.
The methodology followed for this investigation was the implementaion of large-scale
epidemiological studies on incidence, prevalence and determinants of EMF in an endemic
area of Mozambique, using echocardiography. New classification and scoring system for
diagnosing and assessing EMF severity was evolved and applied in community and
hospital-based studies. Concomitantly, characterization of the clinical and biological
profile of EMF in its different stages was done, as well as investigation of the genetic
susceptibility to the disease. Finally, new surgical procedures based on the specific
pathophysiology were developed and applied, with attempts at optimizing the timing of
surgery and its results.
This work has established that echocardiographic screening is able to detect early and
asymptomatic stages of EMF, and that it is a useful tool in assessing its progression,
identifying patients that can benefit from surgery and monitoring response to treatment. It
also shows that novel surgical approaches based in tailored techniques to the specific
components of the disease can improve the outcome. The use of the standardized criteria
in prospective studies may improve knowledge of the natural history and pathogenesis of
EMF allowing better management of EMF and identication of new therapeutic targets.