Congenital mitral valve dysplasia in a female child: Infective endocarditis or heritable disorder of connective tissue?

Abstract

© 2014, Serbian Medical Society . All rights reserved. Introduction. Dysplastic or myxomatous mitral valve is characterized by myxomatous degeneration of collagen and elastin which causes excess growth of mitral valves. In due course, some pathological characteristics may develop, such as mitral valves prolapse with considerable regurgitation, while surface abnormalities of such valves might predispose thromboembolic complications or infective endocarditis. Case report. Three years and seven months old female child was suspected of having infective endocarditis based on the medical history, clinical signs and performed investigations. According to the Duke criteria, she had: 1 major sign - positive echocardiographic finding on the heart (existence of verrucae on mitral valve apparatus) and 3 minor signs - prolonged fever, one positive blood culture and arthralgia. After the applied antibiotic therapy, the control echocardiographic finding was unchanged, laboratory analyses were within normal range and the general condition of the child was good. Therefore, we considered it as myxomatous degeneration of mitral valve apparatus which is very similar to verrucous changes. Conclusion. Based on similar phenotype and echocardiographic characteristics of the little girl and her father we believe that the case in question was congenital mitral valve dysplasia with possible heritable disorder of connective tissue.