• 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 ...
    • Risks of ventricular arrhythmia and heart failure in carriers of RBM20 variants 

      Cannie, Douglas E.; Protonotarios, Alexandros; Bakalakos, Athanasios; Syrris, Petros; Lorenzini, Massimiliano; De Stavola, Bianca; Bjerregaard, Louise; Dybro, Anne M.; Hey, Thomas M.; Hansen, Frederikke G.; Navarro Peñalver, Marina; Crespo-Leiro, María Generosa; Larrañaga-Moreira, José M.; Frutos, Fernando de; Johnson, Renee; Slater, Thomas A.; Monserrat, Lorenzo; Sengupta, Anshuman; Mestroni, Luisa; Taylor, Matthew R.G.; Sinagra, Gianfranco; Bilinska, Zofia; Solla-Ruiz, Itziar; Arana Achaga, Xabier; Barriales-Villa, Roberto; García-Pavia, Pablo; Gimeno, Juan R.; Dal Ferro, Matteo; Merlo, Marco; Wahbi, Karim; Fatkin, Diane; Mogensen, Jens; Rasmussen, Torsten B.; Elliott, Perry M. (American Heart Association, 2023-10)
      [Abstract] Background: Variants in RBM20 are reported in 2% to 6% of familial cases of dilated cardiomyopathy and may be associated with fatal ventricular arrhythmia and rapid heart failure progression. We sought to determine ...