A Case of Marfan Syndrome

ABSTRACT

The Marfan syndrome is classified as a heritable disorder of connective tissue with clinical and pathological alterations involving supporting elements. In its classic form, the Marfan syndrome is associated with abnormalities of the eye(ectopia lentis), aorta(aortic dilatation and aortic regurgitation) and skeleton(dolichostenomelia, arachnodactyly and pectus deformity). The authers have experienced a case of marfan syndrome recently. The patient was 30-years-old male complaining of anterior chest pain radiating to upper back. Physical examination showed tall status, increased length of the limbs as compared with the trunk and arachnodactyly. On auscultation, heart sound was normal without murmur. He wore glasses because of moderate myopia. Roentgenogram of the chest P-A revealed normal cardiac and aortic contours and lung fields. Left lateral view of chest X-ray revealed concave depression of sternum showing mild pectus excavatum, fusiform dilatation of aorta from aortic root to mid portion of thoracic aorta and resulting in obliteration of retrosternal clear space. Echocardiogram demonstrated moderate dilatation of aortic root A-P diameter(4.5cm) without aortic or mitral valvular abnormalities and normal size of left ventricular cavity(EDD:5.3cm). These data coupled with a distinct family history could permit the diagnosis of Marfan syndrome.