Marfan's syndrome: early and severe form in siblings.
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.
Leite
Maria de Fátima M P
Mde F
Hospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil. nbtaoune@cardiol.br
Aoun
Nadia Barreto Tenorio
NB
Borges
Monica Scott
MS
Magalhães
Maria Eliane Campos
ME
Christiani
Luiz A
LA
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