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Rev. Fac. Cienc. Méd. Univ. Cuenca ; 31(3): 70-77, Diciembre 2013. ilus
Article in Spanish | LILACS | ID: biblio-1005877

ABSTRACT

Se presenta el caso de una paciente que acude aconsulta externa del Hospital Vicente Corral Moscosocon diagnóstico de aneurisma de aorta abdominalrealizado mediante tomografía, además se observaque la paciente presenta un biotipo compatiblecon Síndrome de Marfan lo que constituye undesafío diagnóstico y terapéutico. El Síndrome deMarfan se presenta en 1 a 3 casos en cada 10.000pacientes y es causado por defectos en un gen llamado fibrilina-1, el cual juega un papel importantepara la síntesis del tejido conectivo del cuerpoademás de acompañarse de mal formaciones cardiacas y vasculares


It is presented a case of a patient who attends out-patient consultation at the Vicente Corral Moscosohospital with a diagnosis of abdominal aorticaneurysm which was identified through tomography.Besides, the patient shows a biotype compatiblewith Marfan syndrome which constitutes a challengefor diagnosis and therapy. Marfan syndrome ispresent in 1 to 3 cases out of 10,000 patients, andit is caused by defects in a gene called fibrillin-1. Fi-brillin-1 plays an important role for the connectivetissue synthesis of the body; accompanied withcardiac and vascular malformations as well


Subject(s)
Humans , Female , Adult , Therapeutics , Health Strategies , Aortic Aneurysm, Abdominal , Fibrillin-1 , Heart Injuries , Marfan Syndrome
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