title: Marfan's syndrome: early and severe form in siblings.
abstract: Marfan's syndrome is an inherited disorder of the connective tissue. Cardiologic manifestations, especially aortic dilation, are important causes of morbidity and mortality in the clinical course of the disease in adults and teenagers. In children, the presence of aortic aneurysm and its dissection or rupture is rare, occurring in patients with genetic mutation of the fibrillin gene but not in those who have the familial form of the disease. We describe here 2 patients, from the same family (siblings), diagnosed with gigantic aortic aneurysm early in infancy, one of them successfully undergoing surgery.
authors.affiliation: Hospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil. nbtaoune@cardiol.br
authors.forename: Maria de Fátima M P
authors.initials: Mde F
authors.lastname: Leite
authors.forename: Nadia Barreto Tenorio
authors.initials: NB
authors.lastname: Aoun
authors.forename: Monica Scott
authors.initials: MS
authors.lastname: Borges
authors.forename: Maria Eliane Campos
authors.initials: ME
authors.lastname: Magalhães
authors.forename: Luiz A
authors.initials: LA
authors.lastname: Christiani
mesh_terms: D001014:Aortic Aneurysm / Q000175:diagnosis* / Q000188:drug therapy / Q000601:surgery; D002648:Child; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000601:surgery; D035781:Siblings