Massive calcification of the mitral valve annulus in an adolescent with Marfan syndrome. A case report.

Marfan syndrome (MFS) is an inherited connective tissue disorder, transmitted as an autosomal dominant trait. Its phenotypic and clinical expression is variable and involves several body systems. The ocular, skeletal and cardiovascular systems are characteristically affected. Involvement of the cardiovascular system is the main cause of morbidity and mortality. The authors report the case of a thirteen-year-old girl, with MFS diagnosed at age five, referred to the pediatric cardiology department because of mitral regurgitation. In addition to severe mitral regurgitation due to prolapse of both mitral valve leaflets, diagnostic exams showed massive mitral annulus calcification and ostium secundum atrial septal defect (ASD). The patient underwent successful mitral valve repair and ASD closure surgery. In this report we highlight some features of MFS, stressing the cardiovascular aspects.