Article
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Journal of the American College of Cardiology - 14 Jul 2020
Lopez-Sainz Angela, Dominguez Fernando, Lopes Luis Rocha, Ochoa Juan Pablo, Barriales-Villa Roberto, Climent Vicente, Linschoten Marijke, Tiron Coloma, Chiriatti Chiara, Marques Nuno, Rasmussen Torsten B, Espinosa María Ángeles, Beinart Roy, Quarta Giovanni, Cesar Sergi, Field Ella, Garcia-Pinilla Jose M, Bilinska Zofia, Muir Alison R, Roberts Angharad M, Santas Enrique, Zorio Esther, Peña-Peña Maria Luisa, Navarro Marina, Fernandez Adrian, Palomino-Doza Julian, Azevedo Olga, Lorenzini Massimiliano, García-Álvarez Maria I, Bento Dina, Jensen Morten K, Méndez Irene, Pezzoli Laura, Sarquella-Brugada Georgia, Campuzano Oscar, Gonzalez-Lopez Esther, Mogensen Jens, Kaski Juan Pablo, Arad Michael, Brugada Ramon, Asselbergs Folkert W, Monserrat Lorenzo, Olivotto Iacopo, Elliott Perry M, Garcia-Pavia Pablo
Abstract excerpt
BACKGROUND: PRKAG2 gene variants cause a syndrome characterized by cardiomyopathy, conduction disease, and ventricular pre-excitation. Only a small number of cases have been reported to date, and the natural history of the disease is poorly understood. OBJECTIVES: The aim of this study was to describe phenotype and natural history of PRKAG2 variants in a large multicenter European cohort. METHODS: Clinical,...
Topics
Join the communities discussing this publication.