Acute aortic dissection associated with cystic medial necrosis of unknown etiology.

A 61-year-old man without a Marfan-like phenotype was admitted to the hospital because of acute Stanford type A aortic dissection. The patient underwent surgical repair with total arch replacement. Histological examination of the excised aorta showed a connective tissue abnormality, which could have contributed to the development of aortic dissection. The cause of the connective tissue abnormality could not be determined through physical examination. Recently, however, many novel gene mutations have been found to be related to aortic diseases that do not always produce physical signs and symptoms. In this case, unknown causes of connective tissue abnormalities might be existed. (J Nippon Med Sch 2012: 79: 159-162)