Rheumatic heart disease in Africa: is there a role for genetic studies?

Rheumatic heart disease (RHD) constitutes a leading cause of premature death and incapacity in Africa, where it is encountered in younger people, and shows a much faster and more malignant course than that seen in Europe or North America. While it is well established that RHD is a consequence of recurrent, untreated group A β-haemolytic streptococcal infections (GAS), the pathogenesis is incompletely understood, and the variation in natural history and phenotypes are not fully explained. In Africa patients are rarely diagnosed with acute rheumatic fever (ARF). They usually present in the late stages of RHD, with the severe and virulent forms occurring at early ages, therefore leading to high morbidity and mortality in young patients.