Now showing items 1-2 of 2

    • Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers 

      Lorenzini, Massimiliano; Norrish, Gabrielle; Field, Ella; Ochoa, Juan Pablo; Cicerchia, Marcos; Akhtar, Mohammed M.; Syrris, Petros; Lopes, Luis; Kaski, Juan Pablo; Elliot, Perry (Elsevier, 2020-07-27)
      [Abstract] Background. Predictive genetic screening of relatives of patients with hypertrophic cardiomyopathy (HCM) caused by sarcomere protein (SP) gene mutations is current standard of care, but there are few data on ...
    • 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 ...