ListarInsuficiencia cardiaca avanzada e transplante cardiaco por tema "Genetic testing"

Mostrando ítems 1-3 de 3

    • Clinical utility of genetic testing in patients with dilated cardiomyopathy 

      Peña-Peña, María Luisa; Ochoa, Juan Pablo; Barriales-Villa, Roberto; Cicerchia, Marcos; Palomino-Doza, Julián; Salazar-Mendiguchia, Joel; Lamounier, Arsonval; Trujillo, Juan Pablo; García-Giustiniani, Diego; Fernández, Xusto; Ortiz-Genga, Martín; Monserrat, Lorenzo; Crespo-Leiro, María Generosa (Elsevier, 2021-05)
      [Abstract] Introduction and objectives: Dilated cardiomyopathy (DCM) is the most frequent cause of heart transplantation. The prevalence of familial disease can reach 50%. Our objective was to describe the genetic basis ...

    • Prognostic Implications of Pathogenic Truncating Variants in the TTN Gene 

      Peña-Peña, Maria Luisa; Ochoa, Juan Pablo; Barriales-Villa, Roberto; Cicerchia, Marcos; Palomino-Doza, Julián; Salazar-Mediguchia, Joel; Lamounier, Arsonval; Trujillo-Quintero, Juan Pablo; García-Giustiniani, Diego; Fernández, Xusto; Ortiz-Genga, Martín; Monserrat, Lorenzo; Crespo-Leiro, María Generosa (Elsevier, 2020-05-01)
      [Abstract] Introduction and objectives: TTN gene truncating variants (TTNtv) are a frequent cause of dilated cardiomyopathy (DCM). However, there are discrepant data on the associated prognosis. Our objectives were to ...

    • The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome 

      Becerra-Muñoz, Víctor Manuel; Gómez-Doblas, Juan José; Porras-Martín, Carlos; Such-Martínez, Miguel; Crespo-Leiro, María Generosa; Barriales-Vila, Roberto; Teresa-Galván, Eduardo de; Jiménez-Navarro, Manuel; Cabrera-Bueno, Fernando (Springer Nature, 2018-01-22)
      [Abstract] Background: 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 ...