Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
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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, European Genetic Cardiomyopathies Initiative Investigators
Аннотация
OBJECTIVES: The aim of this study was to describe phenotype and natural history of PRKAG2 variants in a large multicenter European cohort.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.