Mitral valve prolapse in a case of Marfan syndrome with congenital cardiac disease, chronic obstructive pulmonary disease and schizophrenia

Abstract

Mitral valve prolapse (MVP) is a common pathological finding in several inherited connective-tissue diseases among which the Marfan syndrome. In the literature several cases of Marfan syndrome characterized by schizophrenia, chronic obstructive pulmonary disease and severe mitral regurgitation due to a MVP have been reported. Our case of MVP was observed in a patient with Marfan syndrome with its characteristic musculoskeletal disorders associated with congenital cardiac disease, severe chronic obstructive pulmonary disease and schizophrenia. According to the latest genetic studies, Marfan syndrome seems to result from genetic mutations in an extracellular matrix glycoprotein, fibrillin. Authors believe that MVP represents only one of several pathological alterations which may be seen in the Marfan syndrome, as expression of a more generalized genetic disorder.