-transparent.png){kind=logo}
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis. 2020
Angela Lopez-Sainz, and
Fernando Dominguez, and
Luis Rocha Lopes, and
Juan Pablo Ochoa, and
Roberto Barriales-Villa, and
Vicente Climent, and
Marijke Linschoten, and
Coloma Tiron, and
Chiara Chiriatti, and
Nuno Marques, and
Torsten B Rasmussen, and
María Ángeles Espinosa, and
Roy Beinart, and
Giovanni Quarta, and
Sergi Cesar, and
Ella Field, and
Jose M Garcia-Pinilla, and
Zofia Bilinska, and
Alison R Muir, and
Angharad M Roberts, and
Enrique Santas, and
Esther Zorio, and
Maria Luisa Peña-Peña, and
Marina Navarro, and
Adrian Fernandez, and
Julian Palomino-Doza, and
Olga Azevedo, and
Massimiliano Lorenzini, and
Maria I García-Álvarez, and
Dina Bento, and
Morten K Jensen, and
Irene Méndez, and
Laura Pezzoli, and
Georgia Sarquella-Brugada, and
Oscar Campuzano, and
Esther Gonzalez-Lopez, and
Jens Mogensen, and
Juan Pablo Kaski, and
Michael Arad, and
Ramon Brugada, and
Folkert W Asselbergs, and
Lorenzo Monserrat, and
Iacopo Olivotto, and
Perry M Elliott, and
Pablo Garcia-Pavia, and
Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart.
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.
Related Publications
Angela Lopez-Sainz, and
Fernando Dominguez, and
Luis Rocha Lopes, and
Juan Pablo Ochoa, and
Roberto Barriales-Villa, and
Vicente Climent, and
Marijke Linschoten, and
Coloma Tiron, and
Chiara Chiriatti, and
Nuno Marques, and
Torsten B Rasmussen, and
María Ángeles Espinosa, and
Roy Beinart, and
Giovanni Quarta, and
Sergi Cesar, and
Ella Field, and
Jose M Garcia-Pinilla, and
Zofia Bilinska, and
Alison R Muir, and
Angharad M Roberts, and
Enrique Santas, and
Esther Zorio, and
Maria Luisa Peña-Peña, and
Marina Navarro, and
Adrian Fernandez, and
Julian Palomino-Doza, and
Olga Azevedo, and
Massimiliano Lorenzini, and
Maria I García-Álvarez, and
Dina Bento, and
Morten K Jensen, and
Irene Méndez, and
Laura Pezzoli, and
Georgia Sarquella-Brugada, and
Oscar Campuzano, and
Esther Gonzalez-Lopez, and
Jens Mogensen, and
Juan Pablo Kaski, and
Michael Arad, and
Ramon Brugada, and
Folkert W Asselbergs, and
Lorenzo Monserrat, and
Iacopo Olivotto, and
Perry M Elliott, and
Pablo Garcia-Pavia, and
January 2015,
Annals of pediatric cardiology,
Angela Lopez-Sainz, and
Fernando Dominguez, and
Luis Rocha Lopes, and
Juan Pablo Ochoa, and
Roberto Barriales-Villa, and
Vicente Climent, and
Marijke Linschoten, and
Coloma Tiron, and
Chiara Chiriatti, and
Nuno Marques, and
Torsten B Rasmussen, and
María Ángeles Espinosa, and
Roy Beinart, and
Giovanni Quarta, and
Sergi Cesar, and
Ella Field, and
Jose M Garcia-Pinilla, and
Zofia Bilinska, and
Alison R Muir, and
Angharad M Roberts, and
Enrique Santas, and
Esther Zorio, and
Maria Luisa Peña-Peña, and
Marina Navarro, and
Adrian Fernandez, and
Julian Palomino-Doza, and
Olga Azevedo, and
Massimiliano Lorenzini, and
Maria I García-Álvarez, and
Dina Bento, and
Morten K Jensen, and
Irene Méndez, and
Laura Pezzoli, and
Georgia Sarquella-Brugada, and
Oscar Campuzano, and
Esther Gonzalez-Lopez, and
Jens Mogensen, and
Juan Pablo Kaski, and
Michael Arad, and
Ramon Brugada, and
Folkert W Asselbergs, and
Lorenzo Monserrat, and
Iacopo Olivotto, and
Perry M Elliott, and
Pablo Garcia-Pavia, and
September 1971,
British medical journal,
Angela Lopez-Sainz, and
Fernando Dominguez, and
Luis Rocha Lopes, and
Juan Pablo Ochoa, and
Roberto Barriales-Villa, and
Vicente Climent, and
Marijke Linschoten, and
Coloma Tiron, and
Chiara Chiriatti, and
Nuno Marques, and
Torsten B Rasmussen, and
María Ángeles Espinosa, and
Roy Beinart, and
Giovanni Quarta, and
Sergi Cesar, and
Ella Field, and
Jose M Garcia-Pinilla, and
Zofia Bilinska, and
Alison R Muir, and
Angharad M Roberts, and
Enrique Santas, and
Esther Zorio, and
Maria Luisa Peña-Peña, and
Marina Navarro, and
Adrian Fernandez, and
Julian Palomino-Doza, and
Olga Azevedo, and
Massimiliano Lorenzini, and
Maria I García-Álvarez, and
Dina Bento, and
Morten K Jensen, and
Irene Méndez, and
Laura Pezzoli, and
Georgia Sarquella-Brugada, and
Oscar Campuzano, and
Esther Gonzalez-Lopez, and
Jens Mogensen, and
Juan Pablo Kaski, and
Michael Arad, and
Ramon Brugada, and
Folkert W Asselbergs, and
Lorenzo Monserrat, and
Iacopo Olivotto, and
Perry M Elliott, and
Pablo Garcia-Pavia, and
April 2017,
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology,
Angela Lopez-Sainz, and
Fernando Dominguez, and
Luis Rocha Lopes, and
Juan Pablo Ochoa, and
Roberto Barriales-Villa, and
Vicente Climent, and
Marijke Linschoten, and
Coloma Tiron, and
Chiara Chiriatti, and
Nuno Marques, and
Torsten B Rasmussen, and
María Ángeles Espinosa, and
Roy Beinart, and
Giovanni Quarta, and
Sergi Cesar, and
Ella Field, and
Jose M Garcia-Pinilla, and
Zofia Bilinska, and
Alison R Muir, and
Angharad M Roberts, and
Enrique Santas, and
Esther Zorio, and
Maria Luisa Peña-Peña, and
Marina Navarro, and
Adrian Fernandez, and
Julian Palomino-Doza, and
Olga Azevedo, and
Massimiliano Lorenzini, and
Maria I García-Álvarez, and
Dina Bento, and
Morten K Jensen, and
Irene Méndez, and
Laura Pezzoli, and
Georgia Sarquella-Brugada, and
Oscar Campuzano, and
Esther Gonzalez-Lopez, and
Jens Mogensen, and
Juan Pablo Kaski, and
Michael Arad, and
Ramon Brugada, and
Folkert W Asselbergs, and
Lorenzo Monserrat, and
Iacopo Olivotto, and
Perry M Elliott, and
Pablo Garcia-Pavia, and
December 1997,
Bailliere's clinical haematology,
Angela Lopez-Sainz, and
Fernando Dominguez, and
Luis Rocha Lopes, and
Juan Pablo Ochoa, and
Roberto Barriales-Villa, and
Vicente Climent, and
Marijke Linschoten, and
Coloma Tiron, and
Chiara Chiriatti, and
Nuno Marques, and
Torsten B Rasmussen, and
María Ángeles Espinosa, and
Roy Beinart, and
Giovanni Quarta, and
Sergi Cesar, and
Ella Field, and
Jose M Garcia-Pinilla, and
Zofia Bilinska, and
Alison R Muir, and
Angharad M Roberts, and
Enrique Santas, and
Esther Zorio, and
Maria Luisa Peña-Peña, and
Marina Navarro, and
Adrian Fernandez, and
Julian Palomino-Doza, and
Olga Azevedo, and
Massimiliano Lorenzini, and
Maria I García-Álvarez, and
Dina Bento, and
Morten K Jensen, and
Irene Méndez, and
Laura Pezzoli, and
Georgia Sarquella-Brugada, and
Oscar Campuzano, and
Esther Gonzalez-Lopez, and
Jens Mogensen, and
Juan Pablo Kaski, and
Michael Arad, and
Ramon Brugada, and
Folkert W Asselbergs, and
Lorenzo Monserrat, and
Iacopo Olivotto, and
Perry M Elliott, and
Pablo Garcia-Pavia, and
December 2014,
Journal of neurology,
Angela Lopez-Sainz, and
Fernando Dominguez, and
Luis Rocha Lopes, and
Juan Pablo Ochoa, and
Roberto Barriales-Villa, and
Vicente Climent, and
Marijke Linschoten, and
Coloma Tiron, and
Chiara Chiriatti, and
Nuno Marques, and
Torsten B Rasmussen, and
María Ángeles Espinosa, and
Roy Beinart, and
Giovanni Quarta, and
Sergi Cesar, and
Ella Field, and
Jose M Garcia-Pinilla, and
Zofia Bilinska, and
Alison R Muir, and
Angharad M Roberts, and
Enrique Santas, and
Esther Zorio, and
Maria Luisa Peña-Peña, and
Marina Navarro, and
Adrian Fernandez, and
Julian Palomino-Doza, and
Olga Azevedo, and
Massimiliano Lorenzini, and
Maria I García-Álvarez, and
Dina Bento, and
Morten K Jensen, and
Irene Méndez, and
Laura Pezzoli, and
Georgia Sarquella-Brugada, and
Oscar Campuzano, and
Esther Gonzalez-Lopez, and
Jens Mogensen, and
Juan Pablo Kaski, and
Michael Arad, and
Ramon Brugada, and
Folkert W Asselbergs, and
Lorenzo Monserrat, and
Iacopo Olivotto, and
Perry M Elliott, and
Pablo Garcia-Pavia, and
August 2018,
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology,
Angela Lopez-Sainz, and
Fernando Dominguez, and
Luis Rocha Lopes, and
Juan Pablo Ochoa, and
Roberto Barriales-Villa, and
Vicente Climent, and
Marijke Linschoten, and
Coloma Tiron, and
Chiara Chiriatti, and
Nuno Marques, and
Torsten B Rasmussen, and
María Ángeles Espinosa, and
Roy Beinart, and
Giovanni Quarta, and
Sergi Cesar, and
Ella Field, and
Jose M Garcia-Pinilla, and
Zofia Bilinska, and
Alison R Muir, and
Angharad M Roberts, and
Enrique Santas, and
Esther Zorio, and
Maria Luisa Peña-Peña, and
Marina Navarro, and
Adrian Fernandez, and
Julian Palomino-Doza, and
Olga Azevedo, and
Massimiliano Lorenzini, and
Maria I García-Álvarez, and
Dina Bento, and
Morten K Jensen, and
Irene Méndez, and
Laura Pezzoli, and
Georgia Sarquella-Brugada, and
Oscar Campuzano, and
Esther Gonzalez-Lopez, and
Jens Mogensen, and
Juan Pablo Kaski, and
Michael Arad, and
Ramon Brugada, and
Folkert W Asselbergs, and
Lorenzo Monserrat, and
Iacopo Olivotto, and
Perry M Elliott, and
Pablo Garcia-Pavia, and
February 1999,
Annales de medecine interne,
Angela Lopez-Sainz, and
Fernando Dominguez, and
Luis Rocha Lopes, and
Juan Pablo Ochoa, and
Roberto Barriales-Villa, and
Vicente Climent, and
Marijke Linschoten, and
Coloma Tiron, and
Chiara Chiriatti, and
Nuno Marques, and
Torsten B Rasmussen, and
María Ángeles Espinosa, and
Roy Beinart, and
Giovanni Quarta, and
Sergi Cesar, and
Ella Field, and
Jose M Garcia-Pinilla, and
Zofia Bilinska, and
Alison R Muir, and
Angharad M Roberts, and
Enrique Santas, and
Esther Zorio, and
Maria Luisa Peña-Peña, and
Marina Navarro, and
Adrian Fernandez, and
Julian Palomino-Doza, and
Olga Azevedo, and
Massimiliano Lorenzini, and
Maria I García-Álvarez, and
Dina Bento, and
Morten K Jensen, and
Irene Méndez, and
Laura Pezzoli, and
Georgia Sarquella-Brugada, and
Oscar Campuzano, and
Esther Gonzalez-Lopez, and
Jens Mogensen, and
Juan Pablo Kaski, and
Michael Arad, and
Ramon Brugada, and
Folkert W Asselbergs, and
Lorenzo Monserrat, and
Iacopo Olivotto, and
Perry M Elliott, and
Pablo Garcia-Pavia, and
October 1979,
Gastroenterology,
Angela Lopez-Sainz, and
Fernando Dominguez, and
Luis Rocha Lopes, and
Juan Pablo Ochoa, and
Roberto Barriales-Villa, and
Vicente Climent, and
Marijke Linschoten, and
Coloma Tiron, and
Chiara Chiriatti, and
Nuno Marques, and
Torsten B Rasmussen, and
María Ángeles Espinosa, and
Roy Beinart, and
Giovanni Quarta, and
Sergi Cesar, and
Ella Field, and
Jose M Garcia-Pinilla, and
Zofia Bilinska, and
Alison R Muir, and
Angharad M Roberts, and
Enrique Santas, and
Esther Zorio, and
Maria Luisa Peña-Peña, and
Marina Navarro, and
Adrian Fernandez, and
Julian Palomino-Doza, and
Olga Azevedo, and
Massimiliano Lorenzini, and
Maria I García-Álvarez, and
Dina Bento, and
Morten K Jensen, and
Irene Méndez, and
Laura Pezzoli, and
Georgia Sarquella-Brugada, and
Oscar Campuzano, and
Esther Gonzalez-Lopez, and
Jens Mogensen, and
Juan Pablo Kaski, and
Michael Arad, and
Ramon Brugada, and
Folkert W Asselbergs, and
Lorenzo Monserrat, and
Iacopo Olivotto, and
Perry M Elliott, and
Pablo Garcia-Pavia, and
September 2012,
Journal of molecular and cellular cardiology,
Angela Lopez-Sainz, and
Fernando Dominguez, and
Luis Rocha Lopes, and
Juan Pablo Ochoa, and
Roberto Barriales-Villa, and
Vicente Climent, and
Marijke Linschoten, and
Coloma Tiron, and
Chiara Chiriatti, and
Nuno Marques, and
Torsten B Rasmussen, and
María Ángeles Espinosa, and
Roy Beinart, and
Giovanni Quarta, and
Sergi Cesar, and
Ella Field, and
Jose M Garcia-Pinilla, and
Zofia Bilinska, and
Alison R Muir, and
Angharad M Roberts, and
Enrique Santas, and
Esther Zorio, and
Maria Luisa Peña-Peña, and
Marina Navarro, and
Adrian Fernandez, and
Julian Palomino-Doza, and
Olga Azevedo, and
Massimiliano Lorenzini, and
Maria I García-Álvarez, and
Dina Bento, and
Morten K Jensen, and
Irene Méndez, and
Laura Pezzoli, and
Georgia Sarquella-Brugada, and
Oscar Campuzano, and
Esther Gonzalez-Lopez, and
Jens Mogensen, and
Juan Pablo Kaski, and
Michael Arad, and
Ramon Brugada, and
Folkert W Asselbergs, and
Lorenzo Monserrat, and
Iacopo Olivotto, and
Perry M Elliott, and
Pablo Garcia-Pavia, and
April 2020,
Pediatric cardiology,
