Marfan症候群の一剖検例

Abstract

A 28-year-old man who had been in apparently good health and had no diagnosed disease was found dead at work. Autopsy was carried out and showed that he was tall (183 cm in height) and lean with arachnodactyly, suspected to suffer from Marfan's syndrome, and revealed dissection involving ascending arch and descending portions of the aorta with rupture into the pericardiac sac. Microscopic examination of the wall of the aortic aneurysm disclosed fragmentation and focal loss of elastic fibers and existence of cystic medial necrosis in the media. Investigation of his family suggested that the disease has been dominantly inherited in his family. From these observations, the cause of death was supposed to be dissecting aneurysm with rupture into the pericardiac sac because of congenital Marfan's syndrome. Immunohistochemical localization of type Ⅰ, Ⅲ, Ⅳ collagen in the aorta demonstrated no significant difference in distribution between normal and diseased tissues of the present case.