Article ID Journal Published Year Pages File Type
3251463 Journal Européen des Urgences et de Réanimation 2012 4 Pages PDF
Abstract
Marfan syndrome is an underdiagnosed disease, which has many consequences: musculoskeletal, pulmonary, ocular and cardiovascular. There is a score (Revised Ghent Nosology) using morphological and genetics criterias which leads to a better screening and validation of MFS. Current therapeutic possibilities are such that life expectancy of a subjet suffering of MFS well-diagnosed and treated is comparable to life expectancy of the general population. We report here the case of a 22-year-old patient, to whom we diagnosed by chance a MFS. The disease was already complicated by severe aortic insufficiency, aortic aneurysm and left ventricular dysfunction.
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