RT Journal Article
T1 Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
A1 Lopez-Sainz, Angela
A1 Dominguez, Fernando
A1 Lopes, Luis Rocha
A1 Ochoa, Juan Pablo
A1 Barriales-Villa, Roberto
A1 Climent, Vicente
A1 Linschoten, Marijke
A1 Tiron, Coloma
A1 Chiriatti, Chiara
A1 Marques, Nuno
A1 Rasmussen, Torsten B
A1 Espinosa, Maria Angeles
A1 Beinart, Roy
A1 Quarta, Giovanni
A1 Cesar, Sergi
A1 Field, Ella
A1 Garcia-Pinilla, Jose M
A1 Bilinska, Zofia
A1 Muir, Alison R
A1 Roberts, Angharad M
A1 Santas, Enrique
A1 Zorio, Esther
A1 Peña-Peña, Maria Luisa
A1 Navarro, Marina
A1 Fernandez, Adrian
A1 Palomino-Doza, Julian
A1 Azevedo, Olga
A1 Lorenzini, Massimiliano
A1 Garcia-Alvarez, Maria I
A1 Bento, Dina
A1 Jensen, Morten K
A1 Mendez, Irene
A1 Pezzoli, Laura
A1 Sarquella-Brugada, Georgia
A1 Campuzano, Oscar
A1 Gonzalez-Lopez, Esther
A1 Mogensen, Jens
A1 Kaski, Juan Pablo
A1 Arad, Michael
A1 Brugada, Ramon
A1 Asselbergs, Folkert W
A1 Monserrat, Lorenzo
A1 Olivotto, Iacopo
A1 Elliott, Perry M
A1 Garcia-Pavia, Pablo
K1 PRKAG2
K1 glycogen-storage disease
K1 heart failure
K1 hypertrophic cardiomyopathy
K1 left ventricular hypertrophy
K1 pacemaker
K1 pre-excitation
K1 sudden cardiac death
AB 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. The aim of this study was to describe phenotype and natural history of PRKAG2 variants in a large multicenter European cohort. Clinical, electrocardiographic, and echocardiographic data from 90 subjects with PRKAG2 variants (53% men; median age 33 years; interquartile range [IQR]: 15 to 50 years) recruited from 27 centers were retrospectively studied. At first evaluation, 93% of patients were in New York Heart Association functional class I or II. Maximum left ventricular wall thickness was 18 ± 8 mm, and left ventricular ejection fraction was 61 ± 12%. Left ventricular hypertrophy (LVH) was present in 60 subjects (67%) at baseline. Thirty patients (33%) had ventricular pre-excitation or had undergone accessory pathway ablation; 17 (19%) had pacemakers (median age at implantation 36 years; IQR: 27 to 46 years), and 16 (18%) had atrial fibrillation (median age 43 years; IQR: 31 to 54 years). After a median follow-up period of 6 years (IQR: 2.3 to 13.9 years), 71% of subjects had LVH, 29% had AF, 21% required de novo pacemakers (median age at implantation 37 years; IQR: 29 to 48 years), 14% required admission for heart failure, 8% experienced sudden cardiac death or equivalent, 4% required heart transplantation, and 13% died. PRKAG2 syndrome is a progressive cardiomyopathy characterized by high rates of atrial fibrillation, conduction disease, advanced heart failure, and life-threatening arrhythmias. Classical features of pre-excitation and severe LVH are not uniformly present, and diagnosis should be considered in patients with LVH who develop atrial fibrillation or require permanent pacemakers at a young age.
PB Elsevier
YR 2020
FD 2020-07-14
LK http://hdl.handle.net/10668/15908
UL http://hdl.handle.net/10668/15908
LA en
NO Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, et al. Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis. J Am Coll Cardiol. 2020 Jul 14;76(2):186-197
DS RISalud
RD Apr 6, 2025