Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

Angela Lopez-Sainz; Fernando Dominguez; Luis Rocha Lopes; Juan Pablo Ochoa; Roberto Barriales-Villa; Vicente Climent; Marijke Linschoten; Coloma Tiron; Chiara Chiriatti; Nuno Marques; Torsten B Rasmussen; María Ángeles Espinosa; Roy Beinart; Giovanni Quarta; Sergi Cesar; Ella Field; Jose M Garcia-Pinilla; Zofia Bilinska; Alison R Muir; Angharad M Roberts; Enrique Santas; Esther Zorio; Maria Luisa Peña-Peña; Marina Navarro; Adrian Fernandez; Julian Palomino-Doza; Olga Azevedo; Massimiliano Lorenzini; Maria I García-Álvarez; Dina Bento; Morten K Jensen; Irene Méndez; Laura Pezzoli; Georgia Sarquella-Brugada; Oscar Campuzano; Esther Gonzalez-Lopez; Jens Mogensen; Juan Pablo Kaski; Michael Arad; Ramon Brugada; Folkert W Asselbergs; Lorenzo Monserrat; Iacopo Olivotto; Perry M Elliott; Pablo Garcia-Pavia

doi:10.1016/j.jacc.2020.05.029

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

Angela Lopez-Sainz, Fernando Dominguez, Luis Rocha Lopes, Juan Pablo Ochoa, Roberto Barriales-Villa, Vicente Climent, Marijke Linschoten, Coloma Tiron, Chiara Chiriatti, Nuno Marques, Torsten B Rasmussen, María Ángeles Espinosa, Roy Beinart, Giovanni Quarta, Sergi Cesar, Ella Field, Jose M Garcia-Pinilla, Zofia Bilinska, Alison R Muir, Angharad M RobertsEnrique Santas, Esther Zorio, Maria Luisa Peña-Peña, Marina Navarro, Adrian Fernandez, Julian Palomino-Doza, Olga Azevedo, Massimiliano Lorenzini, Maria I García-Álvarez, Dina Bento, Morten K Jensen, Irene Méndez, Laura Pezzoli, Georgia Sarquella-Brugada, Oscar Campuzano, Esther Gonzalez-Lopez, Jens Mogensen, Juan Pablo Kaski, Michael Arad, Ramon Brugada, Folkert W Asselbergs, Lorenzo Monserrat, Iacopo Olivotto, Perry M Elliott, Pablo Garcia-Pavia,

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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.

Original language	English
Pages (from-to)	186-197
Number of pages	12
Journal	Journal of the American College of Cardiology
Volume	76
Issue number	2
DOIs	https://doi.org/10.1016/j.jacc.2020.05.029
Publication status	Published - 14 Jul 2020

Keywords

AMP-Activated Protein Kinases/genetics
Adolescent
Adult
Cardiomyopathies/diagnosis
Child
DNA Mutational Analysis
DNA/genetics
Echocardiography
Electrocardiography
Female
Follow-Up Studies
Glycogen Storage Disease/diagnosis
Humans
Male
Middle Aged
Mutation
Myocardium/metabolism
Phenotype
Retrospective Studies
Young Adult
pacemaker
PRKAG2
sudden cardiac death
heart failure
left ventricular hypertrophy
hypertrophic cardiomyopathy
glycogen-storage disease
pre-excitation

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10.1016/j.jacc.2020.05.029

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Lopez-Sainz, A., Dominguez, F., Lopes, L. R., Ochoa, J. P., Barriales-Villa, R., Climent, V., Linschoten, M., Tiron, C., Chiriatti, C., Marques, N., Rasmussen, T. B., Espinosa, M. Á., Beinart, R., Quarta, G., Cesar, S., Field, E., Garcia-Pinilla, J. M., Bilinska, Z., Muir, A. R. (2020). Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis. Journal of the American College of Cardiology, 76(2), 186-197. https://doi.org/10.1016/j.jacc.2020.05.029

@article{10b0c301c12f432db0b44ee716351a40,

title = "Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis",

abstract = "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.",

keywords = "AMP-Activated Protein Kinases/genetics, Adolescent, Adult, Cardiomyopathies/diagnosis, Child, DNA Mutational Analysis, DNA/genetics, Echocardiography, Electrocardiography, Female, Follow-Up Studies, Glycogen Storage Disease/diagnosis, Humans, Male, Middle Aged, Mutation, Myocardium/metabolism, Phenotype, Retrospective Studies, Young Adult, pacemaker, PRKAG2, sudden cardiac death, heart failure, left ventricular hypertrophy, hypertrophic cardiomyopathy, glycogen-storage disease, pre-excitation",

author = "Angela Lopez-Sainz and Fernando Dominguez and Lopes, {Luis Rocha} and Ochoa, {Juan Pablo} and Roberto Barriales-Villa and Vicente Climent and Marijke Linschoten and Coloma Tiron and Chiara Chiriatti and Nuno Marques and Rasmussen, {Torsten B} and Espinosa, {Mar{\'i}a {\'A}ngeles} and Roy Beinart and Giovanni Quarta and Sergi Cesar and Ella Field and Garcia-Pinilla, {Jose M} and Zofia Bilinska and Muir, {Alison R} and Roberts, {Angharad M} and Enrique Santas and Esther Zorio and Pe{\~n}a-Pe{\~n}a, {Maria Luisa} and Marina Navarro and Adrian Fernandez and Julian Palomino-Doza and Olga Azevedo and Massimiliano Lorenzini and Garc{\'i}a-{\'A}lvarez, {Maria I} and Dina Bento and Jensen, {Morten K} and Irene M{\'e}ndez and Laura Pezzoli and Georgia Sarquella-Brugada and Oscar Campuzano and Esther Gonzalez-Lopez and Jens Mogensen and Kaski, {Juan Pablo} and Michael Arad and Ramon Brugada and Asselbergs, {Folkert W} and Lorenzo Monserrat and Iacopo Olivotto and Elliott, {Perry M} and Pablo Garcia-Pavia and AF Baas and Dennis Dooijes",

note = "Funding Information: This work was supported by grants from Instituto de Salud Carlos III (PI17/01941, AC16/0014, PI17/01690, PI18/01582 and PT17/0015/0043); ERA-CVD Joint Transnational Call 2016 (GENPROVIC) to Dr. Garcia-Pavia; the DETECTIN-HF project (ERA-CVD framework) to Dr. Bilinska; the Wellcome Trust (107469/Z/15/); the National Institute for Health Research (NIHR) Royal Brompton Cardiovascular Biomedical Research Unit; the NIHR Imperial Biomedical Research Centre; a Health Innovation Challenge Fund award from the Wellcome Trust and the Department of Health, United Kingdom (HICF-R6-373); the British Heart Foundation (SP/10/10/28431); Obra Social La Caixa Foundation (ID 100010434); and Fundacio Privada Daniel Bravo Andreu. Grants from Instituto de Salud Carlos III and the Spanish Ministry of Economy and Competitiveness are supported by Plan Estatal de I.D.I. 2013–2016, European Regional Development Fund (“A Way of Making Europe”). Dr. Lopes is a recipient of a Medical Research Council Clinical Academic Research Partnership Award. Dr. Asselbergs is supported by the UCL Hospitals NIHR Biomedical Research Centre. Dr. Pezzoli is supported by Fondazione per la Ricerca Ospedale Maggiore. Dr. Kaski is supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The views expressed in this publication are those of the authors and not necessarily those of the National Health Service, the NIHR, or the Department of Health. Hospital Universitario Puerta de Hierro, Hospital Universitario Virgen de la Arrixaca, Hospital Sant Joan de Deu, the Great Ormond Street Hospital, and St. Bartholomew{\textquoteright}s Hospital are members of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart). The authors have reported that they have no relationships relevant to the contents of this paper to disclose. P.K. Shah, MD, served as Guest Editor-in-Chief for this paper. Funding Information: This work was supported by grants from Instituto de Salud Carlos III (PI17/01941, AC16/0014, PI17/01690, PI18/01582 and PT17/0015/0043); ERA-CVD Joint Transnational Call 2016 (GENPROVIC) to Dr. Garcia-Pavia; the DETECTIN-HF project (ERA-CVD framework) to Dr. Bilinska; the Wellcome Trust (107469/Z/15/); the National Institute for Health Research (NIHR) Royal Brompton Cardiovascular Biomedical Research Unit; the NIHR Imperial Biomedical Research Centre; a Health Innovation Challenge Fund award from the Wellcome Trust and the Department of Health, United Kingdom (HICF-R6-373); the British Heart Foundation (SP/10/10/28431); Obra Social La Caixa Foundation (ID 100010434); and Fundacio Privada Daniel Bravo Andreu. Grants from Instituto de Salud Carlos III and the Spanish Ministry of Economy and Competitiveness are supported by Plan Estatal de I.D.I. 2013?2016, European Regional Development Fund (?A Way of Making Europe?). Dr. Lopes is a recipient of a Medical Research Council Clinical Academic Research Partnership Award. Dr. Asselbergs is supported by the UCL Hospitals NIHR Biomedical Research Centre. Dr. Pezzoli is supported by Fondazione per la Ricerca Ospedale Maggiore. Dr. Kaski is supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The views expressed in this publication are those of the authors and not necessarily those of the National Health Service, the NIHR, or the Department of Health. Hospital Universitario Puerta de Hierro, Hospital Universitario Virgen de la Arrixaca, Hospital Sant Joan de Deu, the Great Ormond Street Hospital, and St. Bartholomew's Hospital are members of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart). The authors have reported that they have no relationships relevant to the contents of this paper to disclose. P.K. Shah, MD, served as Guest Editor-in-Chief for this paper. Publisher Copyright: {\textcopyright} 2020 American College of Cardiology Foundation",

year = "2020",

month = jul,

day = "14",

doi = "10.1016/j.jacc.2020.05.029",

language = "English",

volume = "76",

pages = "186--197",

journal = "Journal of the American College of Cardiology",

issn = "0735-1097",

publisher = "Elsevier USA",

number = "2",

}

Lopez-Sainz, A, Dominguez, F, Lopes, LR, Ochoa, JP, Barriales-Villa, R, Climent, V, Linschoten, M, Tiron, C, Chiriatti, C, Marques, N, Rasmussen, TB, Espinosa, MÁ, Beinart, R, Quarta, G, Cesar, S, Field, E, Garcia-Pinilla, JM, Bilinska, Z, Muir, AR, Roberts, AM, Santas, E, Zorio, E, Peña-Peña, ML, Navarro, M, Fernandez, A, Palomino-Doza, J, Azevedo, O, Lorenzini, M, García-Álvarez, MI, Bento, D, Jensen, MK, Méndez, I, Pezzoli, L, Sarquella-Brugada, G, Campuzano, O, Gonzalez-Lopez, E, Mogensen, J, Kaski, JP, Arad, M, Brugada, R, Asselbergs, FW, Monserrat, L, Olivotto, I, Elliott, PM, Garcia-Pavia, P 2020, 'Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis', Journal of the American College of Cardiology, vol. 76, no. 2, pp. 186-197. https://doi.org/10.1016/j.jacc.2020.05.029

TY - JOUR

T1 - Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

AU - Lopez-Sainz, Angela

AU - Dominguez, Fernando

AU - Lopes, Luis Rocha

AU - Ochoa, Juan Pablo

AU - Barriales-Villa, Roberto

AU - Climent, Vicente

AU - Linschoten, Marijke

AU - Tiron, Coloma

AU - Chiriatti, Chiara

AU - Marques, Nuno

AU - Rasmussen, Torsten B

AU - Espinosa, María Ángeles

AU - Beinart, Roy

AU - Quarta, Giovanni

AU - Cesar, Sergi

AU - Field, Ella

AU - Garcia-Pinilla, Jose M

AU - Bilinska, Zofia

AU - Muir, Alison R

AU - Roberts, Angharad M

AU - Santas, Enrique

AU - Zorio, Esther

AU - Peña-Peña, Maria Luisa

AU - Navarro, Marina

AU - Fernandez, Adrian

AU - Palomino-Doza, Julian

AU - Azevedo, Olga

AU - Lorenzini, Massimiliano

AU - García-Álvarez, Maria I

AU - Bento, Dina

AU - Jensen, Morten K

AU - Méndez, Irene

AU - Pezzoli, Laura

AU - Sarquella-Brugada, Georgia

AU - Campuzano, Oscar

AU - Gonzalez-Lopez, Esther

AU - Mogensen, Jens

AU - Kaski, Juan Pablo

AU - Arad, Michael

AU - Brugada, Ramon

AU - Asselbergs, Folkert W

AU - Monserrat, Lorenzo

AU - Olivotto, Iacopo

AU - Elliott, Perry M

AU - Garcia-Pavia, Pablo

AU - Baas, AF

AU - Dooijes, Dennis

N1 - Funding Information: This work was supported by grants from Instituto de Salud Carlos III (PI17/01941, AC16/0014, PI17/01690, PI18/01582 and PT17/0015/0043); ERA-CVD Joint Transnational Call 2016 (GENPROVIC) to Dr. Garcia-Pavia; the DETECTIN-HF project (ERA-CVD framework) to Dr. Bilinska; the Wellcome Trust (107469/Z/15/); the National Institute for Health Research (NIHR) Royal Brompton Cardiovascular Biomedical Research Unit; the NIHR Imperial Biomedical Research Centre; a Health Innovation Challenge Fund award from the Wellcome Trust and the Department of Health, United Kingdom (HICF-R6-373); the British Heart Foundation (SP/10/10/28431); Obra Social La Caixa Foundation (ID 100010434); and Fundacio Privada Daniel Bravo Andreu. Grants from Instituto de Salud Carlos III and the Spanish Ministry of Economy and Competitiveness are supported by Plan Estatal de I.D.I. 2013–2016, European Regional Development Fund (“A Way of Making Europe”). Dr. Lopes is a recipient of a Medical Research Council Clinical Academic Research Partnership Award. Dr. Asselbergs is supported by the UCL Hospitals NIHR Biomedical Research Centre. Dr. Pezzoli is supported by Fondazione per la Ricerca Ospedale Maggiore. Dr. Kaski is supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The views expressed in this publication are those of the authors and not necessarily those of the National Health Service, the NIHR, or the Department of Health. Hospital Universitario Puerta de Hierro, Hospital Universitario Virgen de la Arrixaca, Hospital Sant Joan de Deu, the Great Ormond Street Hospital, and St. Bartholomew’s Hospital are members of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart). The authors have reported that they have no relationships relevant to the contents of this paper to disclose. P.K. Shah, MD, served as Guest Editor-in-Chief for this paper. Funding Information: This work was supported by grants from Instituto de Salud Carlos III (PI17/01941, AC16/0014, PI17/01690, PI18/01582 and PT17/0015/0043); ERA-CVD Joint Transnational Call 2016 (GENPROVIC) to Dr. Garcia-Pavia; the DETECTIN-HF project (ERA-CVD framework) to Dr. Bilinska; the Wellcome Trust (107469/Z/15/); the National Institute for Health Research (NIHR) Royal Brompton Cardiovascular Biomedical Research Unit; the NIHR Imperial Biomedical Research Centre; a Health Innovation Challenge Fund award from the Wellcome Trust and the Department of Health, United Kingdom (HICF-R6-373); the British Heart Foundation (SP/10/10/28431); Obra Social La Caixa Foundation (ID 100010434); and Fundacio Privada Daniel Bravo Andreu. Grants from Instituto de Salud Carlos III and the Spanish Ministry of Economy and Competitiveness are supported by Plan Estatal de I.D.I. 2013?2016, European Regional Development Fund (?A Way of Making Europe?). Dr. Lopes is a recipient of a Medical Research Council Clinical Academic Research Partnership Award. Dr. Asselbergs is supported by the UCL Hospitals NIHR Biomedical Research Centre. Dr. Pezzoli is supported by Fondazione per la Ricerca Ospedale Maggiore. Dr. Kaski is supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The views expressed in this publication are those of the authors and not necessarily those of the National Health Service, the NIHR, or the Department of Health. Hospital Universitario Puerta de Hierro, Hospital Universitario Virgen de la Arrixaca, Hospital Sant Joan de Deu, the Great Ormond Street Hospital, and St. Bartholomew's Hospital are members of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-Heart). The authors have reported that they have no relationships relevant to the contents of this paper to disclose. P.K. Shah, MD, served as Guest Editor-in-Chief for this paper. Publisher Copyright: © 2020 American College of Cardiology Foundation

PY - 2020/7/14

Y1 - 2020/7/14

N2 - 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.

AB - 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.

KW - AMP-Activated Protein Kinases/genetics

KW - Adolescent

KW - Adult

KW - Cardiomyopathies/diagnosis

KW - Child

KW - DNA Mutational Analysis

KW - DNA/genetics

KW - Echocardiography

KW - Electrocardiography

KW - Female

KW - Follow-Up Studies

KW - Glycogen Storage Disease/diagnosis

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Myocardium/metabolism

KW - Phenotype

KW - Retrospective Studies

KW - Young Adult

KW - pacemaker

KW - PRKAG2

KW - sudden cardiac death

KW - heart failure

KW - left ventricular hypertrophy

KW - hypertrophic cardiomyopathy

KW - glycogen-storage disease

KW - pre-excitation

UR - http://www.scopus.com/inward/record.url?scp=85086928520&partnerID=8YFLogxK

U2 - 10.1016/j.jacc.2020.05.029

DO - 10.1016/j.jacc.2020.05.029

M3 - Article

C2 - 32646569

SN - 0735-1097

VL - 76

SP - 186

EP - 197

JO - Journal of the American College of Cardiology

JF - Journal of the American College of Cardiology

IS - 2

ER -

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

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