Rheumatic heart disease in a patient with Marfan's syndrome

Olawale Mathias Akinlade, Oladimeji George Opadijo
2019 International Journal of Case Reports and Images  
Marfan's syndrome (MFS) is an inheritable autosomal dominant disorder affecting the connective tissue with defect isolated to FBN1 gene on chromosome 15, which codes for the connective tissue protein fibrillin. The malfunctioning of the above gene has been implicated with predominantly heart, musculoskeletal and ocular problems. The main cardiovascular manifestations in Marfan's syndrome are mitral valve prolapse and aortic dilation which according to literature database have a prevalence of
more » ... a prevalence of 76% and 62% respectively in adult population with Marfan's syndrome. The case reported is that of a patient who presented with features of congestive heart failure secondary to rheumatic heart disease who also has clinical and echocardiographic features of Marfan's syndrome. This report highlights the coexistence of two major cardiovascular abnormalities, one inherited and the other one acquired which had not been previously reported to the best of our knowledge so far in Nigeria and indeed West Africa.
doi:10.5348/101020z01oa2019cr fatcat:qxwfxrkrcrferlsfdmhdjuumca