Abstract

MOROCHO-QUINCHUELA, Flor Betzabet; ENRRIQUEZ-GRIJALVA, Mauricio Fernando  and  JAMI-CARRERA, Jeanneth Elizabeth. Some considerations on Marfan syndrome linked to the FBN1 gene. Rev Ciencias Médicas [online]. 2023, vol.27, suppl.2  Epub Dec 01, 2023. ISSN 1561-3194.

Marfan syndrome is a rare autosomal dominant disease due to changes in the FBN1 gene that develops with cardiovascular (aortic root dilatation is evident), ocular (lens dislocation is typical, although the most recurrent is myopia) and musculoskeletal problems, mainly. Its diagnosis is made according to the Ghent scale, although in the field of pediatrics it is not so evident, since the clinical manifestations of Marfan syndrome appear in progress over the years. Therefore, in children who do not meet the diagnostic criteria, a definitive diagnosis of any other pathology should not be made until the age of 20 years. In these cases, if the patient has a pathogenic mutation of the FBN1 gene, they will be temporarily diagnosed with potential Marfan syndrome. On the other hand, if they do not have a pathogenic mutation of the FBN1 gene, they will be provisionally diagnosed with nonspecific connective tissue disease.

Keywords : MARFAN SYNDROME; AORTIC ROOT ANEURYSM; GENETIC DISEASES; MITRAL VALVE PROLAPSE..

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )