Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.

Autor:	Lopez-Sainz A; 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., Dominguez F; 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; Myocardial Biology Program, Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain. Electronic address: fdominguezrodriguez@gmail.com., Lopes LR; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, London, United Kingdom; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, United Kingdom., Ochoa JP; Cardiology Department, Health in Code, A Coruña, Spain., Barriales-Villa R; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; Inherited Cardiovascular Diseases Unit, Cardiology Service, Complexo Hospitalario Universitario de A Coruña, Servizo Galego de Saúde, Instituto de Investigación Biomédica de A Coruña, Universidade da Coruña, A Coruña, Spain., Climent V; Cardiology Department, Hospital General Universitario de Alicante, Institute of Health and Biomedical Research, Alicante, Spain., Linschoten M; Department of Cardiology, Division of Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Tiron C; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitari Dr. Josep Trueta, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain., Chiriatti C; Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy., Marques N; Algarve Biomedical Center, Faro, Portugal; Hospital Universitário do Algarve, Faro, Portugal; Biomedical and Medicine Department, University of Algarve, Faro, Portugal., Rasmussen TB; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark., Espinosa MÁ; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; Department of Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain., Beinart R; Leviev Heart Center, Sheba Medical Center and The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Quarta G; ASST Papa Giovanni XXIII, Bergamo, Italy., Cesar S; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Pediatric Cardiology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Field E; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital and UCL Institute of Cardiovascular Science, London, United Kingdom., Garcia-Pinilla JM; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; Heart Failure and Familial Cardiomyopathies Unit, Cardiology Department, Hospital Universitario Virgen de la Victoria, IBIMA, Malaga, Spain., Bilinska Z; Unit for Screening Studies in Inherited Cardiovascular Diseases, The Cardinal Stefan Wyszynski Institute of Cardiology, Warsaw, Poland., Muir AR; Northern Ireland Inherited Cardiac Conditions Service, Belfast Health and Social Care Trust, Belfast, United Kingdom., Roberts AM; National Heart and Lung Institute, Imperial College London, London, United Kingdom; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust London, London, United Kingdom., Santas E; Department of Cardiology, Hospital Clínico Universitario de Valencia, INCLIVA, Valencia, Spain., Zorio E; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; Inherited Cardiac Diseases and Sudden Death Unit, Department of Cardiology, Hospital Universitario y Politécnico La Fe, Instituto de Investigación Sanitaria La Fe, Valencia, Spain., Peña-Peña ML; Inherited Cardiac Diseases and Cardiac Imaging Unit, Department of Cardiology, Hospital Universitario Virgen del Rocío, Seville, Spain., Navarro M; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Department of Cardiology, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain., Fernandez A; Department of Ambulatory Cardiology, Favaloro Foundation University Hospital, Buenos Aires, Argentina., Palomino-Doza J; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; Inherited Cardiac Diseases Unit, Cardiology Department, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, Madrid, Spain., Azevedo O; Cardiology Department, Hospital Senhora da Oliveira, Guimarães, Portugal; European Reference Network on Hereditary Metabolic Disorders; Life and Health Sciences Research Institute, School of Medicine, University of Minho, Braga, Portugal; Life and Health Sciences Research Institute/3Bs PT Government Associate Laboratory, Braga/Guimarães, Portugal., Lorenzini M; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, London, United Kingdom; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, United Kingdom., García-Álvarez MI; Cardiology Department, Hospital General Universitario de Alicante, Institute of Health and Biomedical Research, Alicante, Spain., Bento D; Algarve Biomedical Center, Faro, Portugal; Hospital Universitário do Algarve, Faro, Portugal; Biomedical and Medicine Department, University of Algarve, Faro, Portugal., Jensen MK; Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark., Méndez I; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; Department of Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain., Pezzoli L; ASST Papa Giovanni XXIII, Bergamo, Italy., Sarquella-Brugada G; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Medical Science Department, School of Medicine, University of Girona, Girona, Spain; Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Pediatric Cardiology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Campuzano O; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain; Biochemistry and Molecular Genetics Department, Hospital Clinic, University of Barcelona-IDIBAPS, Barcelona, Spain., Gonzalez-Lopez E; 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., Mogensen J; Department of Cardiology, Odense University Hospital, Odense, Denmark., Kaski JP; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital and UCL Institute of Cardiovascular Science, London, United Kingdom., Arad M; Leviev Heart Center, Sheba Medical Center and The Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Brugada R; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitari Dr. Josep Trueta, Girona, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain., Asselbergs FW; Department of Cardiology, Division of Heart & Lungs, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, United Kingdom; Health Data Research UK and Institute of Health Informatics, University College London, London, United Kingdom., Monserrat L; Cardiology Department, Health in Code, A Coruña, Spain., Olivotto I; Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy., Elliott PM; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, London, United Kingdom; Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, United Kingdom., Garcia-Pavia P; 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; Universidad Francisco de Vitoria, Pozuelo de Alarcon, Spain. Electronic address: pablogpavia@yahoo.es.
Jazyk:	angličtina
Zdroj:	Journal of the American College of Cardiology [J Am Coll Cardiol] 2020 Jul 14; Vol. 76 (2), pp. 186-197.
DOI:	10.1016/j.jacc.2020.05.029
Abstrakt:	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, 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. (Copyright © 2020 American College of Cardiology Foundation. All rights reserved.)
Databáze:	MEDLINE
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