• Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure 

      Martínez-Veira, Cristina; Cannie, Douglas E.; Syrris, Petros; Protonotarios, Alexandros; Bakalakos, Athanasios; Pruny, Jean-François; Ditaranto, Rafaello; Larrañaga-Moreira, José María; Medo, Kristen; Bermúdez-Jiménez, Francisco J.; Ben Yaou, Rabah; Leturcq, France; Robles-Mezcua, Ainhoa; Marini-Betolo, Chiara; Cabrera, Eva; Reuter, Chloe; Limeres-Freire, Javier; Rodríguez-Palomares, José Fernando; Mestroni, Luisa; Taylor, Matthew R. G.; Parikh, Victoria N.; Ashley, Euan A.; Barriales-Villa, Roberto; Jiménez-Jáimez, Juan; García-Pavía, Pablo; Charron, Philippe; Biagini, Elena; García-Pinilla, José Manuel; Bourke, John; Savvatis, Konstantinos; Wahbi, Karim; Elliott, Perry M. (Oxford Academic, 2023-08-28)
      [Abstract] Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart ...
    • 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 ...