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Cuadernos de Medicina Forense

versão On-line ISSN 1988-611Xversão impressa ISSN 1135-7606


BLANCO PAMPIN, J.  e  RAMOS GARCIA, O.. Sudden death in a young man with Marfan's Syndrome. Cuad. med. forense [online]. 2005, n.42, pp.317-325. ISSN 1988-611X.

Marfan´s syndrome is a disorder of the connective tissue with a variable clinical expression. Clinically the most important manifestations are the ocular, skeletal and cardiovascular ones, which frequently lead to death. Cardiovascular complications involve mainly the valves and the aorta, in fact at this level is common finding cystic medial degeneration areas, characterized by apoptosis and by the loss of vascular smooth muscle cells. Although the specific biological defect is unknown, it has been thought to be an increase of the hialuronic acid synthesis, an increase of the collagen and elastine solubility, the alteration in the ratio collagen type-1 and type-3 and more recently, the presence of collagen-alpha2 chains. The interest of this syndrome in forensic pathology is that it can be present as a sudden death without any previous manifestation, being very important to identify carefully all the autopsy findings to relate them with this syndrome. It has also an epidemiologic interest with the aim of communicating the information that may be of medical importance to other family´s members. We report a case with these characteristics in a young man without previous symptoms who died suddenly at the disco's exit. The macroscopic examination showed aortic dissection in the extrapericardical portion, considered as cause of the death. The case is also illustrated with the specific histopathologic study.

Palavras-chave : Marfan's syndrome; Sudden death; Aortic dissection; Forensic pathology.

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