Emphysema, dilatation of ascending aorta and mitral valve prolapse in Marfan syndrome - A case report

Marfan syndrome is an autosomal dominant, multisystem connective tissue disorder. Mutations are present in the FBN1 gene on chromosome 15, which encodes for the connective tissue protein fibrillin, occasionally a mutation in TGFBR1 or 2. This disorder is characterized by skeletal, cardiovascular and ocular abnormalities. Pulmonary abnormalities occur in approximately 10% of patients, the commonest being spontaneous pneumothorax and emphysema. Cardiovascular abnormalities being Mitral valve prolapse (MVP), is a relatively frequent abnormality and Aortic dilatation. Aortic root dilatation is one of the cardinal features of Marfan syndrome. But aorta may be dilated anywhere in its course, most common being ascending aorta. In this case report, a 17 years old boy with Marfan syndrome presented with combination of emphysema, dilatation of ascending aorta, mitral valve prolapse, which is rare.