title: [Familial Annulo-aortic Ectasia without Marfan Syndrome].
abstract: Marfan syndrome is a hereditary disease that presents ocular, skeletal, and cardiovascular abnormalities. In recent years, there have been several reports of patients with familial cardiovascular disease but no physical features of Marfan syndrome. We encountered 3 cases of familial annulo-aortic ectasia (AAE). Their father had also had aortic regurgitation, and died during surgery 10 years before. No case demonstrated any physical characteristics of Marfan syndrome or any other connective tissue disease. All cases were operated successfully. One case showed cystic medial necrosis, and 2 cases showed degenerative change. The present report suggests that familial AAE may be caused by weakness of the aortic wall related to heredity. If AAE is left untreated, it can lead to aortic dissection. Thus, we recommend that patients with familial AAE should undergo screening and follow-up similar to patients with Marfan syndrome.
authors.affiliation: Department of Cardiovascular Surgery, Tokyo Heart Center, Tokyo, Japan.
authors.forename: Hirohito
authors.initials: H
authors.lastname: Terada
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Nakagawa
authors.forename: Takuya
authors.initials: T
authors.lastname: Miyazaki
authors.forename: Susumu
authors.initials: S
authors.lastname: Hiranuma
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Muto
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Okuyama
authors.forename: Akihiro
authors.initials: A
authors.lastname: Nabuchi
authors.forename: Masahiro
authors.initials: M
authors.lastname: Endo
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Matsumoto
authors.forename: Mayuko
authors.initials: M
authors.lastname: Izumi
mesh_terms: D000328:Adult; D017545:Aortic Aneurysm, Thoracic / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged