Now showing items 1-5 of 5

    • A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome 

      Torrado, Mario; Fernández, Germán; Ganoza, Christian A.; Maneiro, Emilia; García, Diego; Sonicheva-Paterson, Natalia; Rosa, Isaac; Ochoa, Juan Pablo; Santomé, Luis; Vasichkina, Elena; Monserrat, Lorenzo (Nature, 2021-03-04)
      [Abstract] Here we report an infant with clinical findings suggestive of Jervell and Lange-Nielsen syndrome (JLNS), including a prolonged QT interval (LQTS) and chronic bilateral sensorineural deafness. NGS analysis revealed ...
    • Identification of an Elusive Spliceogenic MYBPC3 Variant in an Otherwise Genotype-Negative Hypertrophic Cardiomyopathy Pedigree 

      Torrado, Mario; Maneiro, Emilia; Mamounier Junior, Arsonval; Fernández-Burriel, Miguel; Sánchez Giralt, Sara; Martínez-Carapeto, Ana; Cazón, Laura; Santiago, Elisa; Ochoa, Juan Pablo; McKenna, William J.; Santomé, Luis; Monserrat, Lorenzo (Nature, 2022-05-04)
      [Abstract] The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. ...
    • 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 ...
    • Risk Predictors in a Spanish Cohort With Cardiac Laminopathies. The REDLAMINA Registry 

      Barriales-Villa, Roberto; Ochoa, Juan Pablo; Larrañaga-Moreira, Jose Maria; Salazar-Mediguchia, Joel; Díez-López, Carles; Restrepo-Córdoba, María Alejandra; Álvarez-Rubio, Jorge; Robles-Mezcua, Ainhoa; Olmo-Conesa, María C.; Nicolás-Rocamora, Elisa; Sanz, Jorge; Villacorta, Eduardo; Gallego-Delgado, María; Yotti, Raquel; Espinosa, María Ángeles; Manovel, Ana; Rincón-Díaz, Luis M.; Jiménez-Jaimez, Juan; Bermúdez-Jiménez, Francisco J.; Basurte-Elorz, M. Teresa; Climent-Payá, Vicente; García-Álvarez, María I.; Rodríguez-Palomares, José Fernando; Limeres-Freire, Javier; Pérez-Guerrero, Ainhoa; Cantero-Pérez, Eva M.; Peña-Peña, Maria Luisa; Palomino-Doza, Julián; Crespo-Leiro, María Generosa; García-Pinilla, José Manuel; Zorio, Esther; Ripoll-Vera, Tomás; García-Pavía, Pablo; Ortiz-Genga, Martín; Monserrat, Lorenzo (Elsevier, 2020-06-29)
      [Abstract] Introduction and objectives. According to sudden cardiac death guidelines, an implantable cardioverter-defibrillator (ICD) should be considered in patients with LMNA-related dilated cardiomyopathy (DCM) and ...