Some considerations on Marfan syndrome linked to the FBN1 gene

Authors

Keywords:

MARFAN SYNDROME, AORTIC ROOT ANEURYSM, GENETIC DISEASES, MITRAL VALVE PROLAPSE.

Abstract

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.

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Published

2023-12-31

How to Cite

1.
Morocho-Quinchuela FB, Enrriquez-Grijalva MF, Jami-Carrera JE. Some considerations on Marfan syndrome linked to the FBN1 gene. Rev Ciencias Médicas [Internet]. 2023 Dec. 31 [cited 2025 Oct. 13];27(2):e6299. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/6299

Issue

Vol. 27 No. 2 (2023): Supplement 2: International Scientific Congress on Research and Development UNIANDES Ibarra-Tulcán 2023

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REVIEW ARTICLES

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