RT Journal Article
T1 The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
A1 Becerra-Muñoz, Víctor Manuel
A1 Gómez-Doblas, Juan José
A1 Porras-Martín, Carlos
A1 Such-Martínez, Miguel
A1 Crespo-Leiro, María Generosa
A1 Barriales-Villa, Roberto
A1 de Teresa-Galván, Eduardo
A1 Jiménez-Navarro, Manuel
A1 Cabrera-Bueno, Fernando
K1 Ascending aortic aneurysm
K1 FBN-1
K1 Genetic testing
K1 Hereditary aortopathy
K1 Marfan syndrome
K1 Type a dissection
AB Marfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) gene mutations are found in more than 90% of MFS cases. The aim of our study was to summarise variants in FBN-1 and establish the genotype-phenotype correlation, with particular interest in the onset of aortic events, in a broad population of patients with an initial clinical suspicion of MFS. This single centre prospective cohort study included all patients presenting variants in the FBN-1 gene who visited a Hereditary Aortopathy clinic between September 2010 and October 2016. The study included 90 patients with FBN-1 variants corresponding to 58 non-interrelated families. Of the 57 FBN-1 variants found, 25 (43.9%) had previously been described, 23 of which had been identified as associated with MFS, while the the remainder are described for the first time. For 84 patients (93.3%), it was possible to give a definite diagnosis of Marfan syndrome in accordance with Ghent criteria. 44 of them had missense mutations, 6 of whom had suffered an aortic event (with either prophylactic surgery for aneurysm or dissection), whereas 20 of the 35 patients with truncating mutations had suffered an event (13.6% vs. 57.1%, p  Patients with MFS and truncating variants in FBN-1 presented a higher proportion of aortic events, compared to a more benign course in patients with missense mutations. Genetic findings could, therefore, have importance not only in the diagnosis, but also in risk stratification and clinical management of patients with suspected MFS.
YR 2018
FD 2018-01-22
LK http://hdl.handle.net/10668/12035
UL http://hdl.handle.net/10668/12035
LA en
DS RISalud
RD Apr 6, 2025