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@article{Lopez-Sainz:2020:10.1016/j.jacc.2020.05.029,
author = {Lopez-Sainz, A and Dominguez, F and Rocha, Lopes L and Pablo, Ochoa J and Barriales-Villa, R and Climent, V and Linschoten, M and Tiron, C and Chiriatti, C and Marques, N and Rasmussen, TB and Angeles, Espinosa M and Beinart, R and Quarta, G and Cesar, S and Field, E and Garcia-Pinilla, JM and Bilinska, Z and Muir, AR and Roberts, AM and Santas, E and Zorio, E and Pena-Pena, ML and Navarro, M and Fernandez, A and Palomino-Doza, J and Azevedo, O and Lorenzini, M and Garcia-Alvarez, MI and Bento, D and Jensen, MK and Mendez, I and Pezzoli, L and Sarquella-Brugada, G and Campuzano, O and Gonzalez-Lopez, E and Mogensen, J and Kaski, JP and Arad, M and Brugada, R and Asselbergs, FW and Monserrat, L and Olivotto, I and Elliott, PM and Garcia-Pavia, P},
doi = {10.1016/j.jacc.2020.05.029},
journal = {Journal of the American College of Cardiology},
pages = {186--197},
title = {Clinical features and natural history of PRKAG2 variant cardiac glycogenosis},
url = {http://dx.doi.org/10.1016/j.jacc.2020.05.029},
volume = {76},
year = {2020}
}

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TY  - JOUR
AB  - BackgroundPRKAG2 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.ObjectivesThe aim of this study was to describe phenotype and natural history of PRKAG2 variants in a large multicenter European cohort.MethodsClinical, 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.ResultsAt 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.ConclusionsPRKAG2 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.
AU  - Lopez-Sainz,A
AU  - Dominguez,F
AU  - Rocha,Lopes L
AU  - Pablo,Ochoa J
AU  - Barriales-Villa,R
AU  - Climent,V
AU  - Linschoten,M
AU  - Tiron,C
AU  - Chiriatti,C
AU  - Marques,N
AU  - Rasmussen,TB
AU  - Angeles,Espinosa M
AU  - Beinart,R
AU  - Quarta,G
AU  - Cesar,S
AU  - Field,E
AU  - Garcia-Pinilla,JM
AU  - Bilinska,Z
AU  - Muir,AR
AU  - Roberts,AM
AU  - Santas,E
AU  - Zorio,E
AU  - Pena-Pena,ML
AU  - Navarro,M
AU  - Fernandez,A
AU  - Palomino-Doza,J
AU  - Azevedo,O
AU  - Lorenzini,M
AU  - Garcia-Alvarez,MI
AU  - Bento,D
AU  - Jensen,MK
AU  - Mendez,I
AU  - Pezzoli,L
AU  - Sarquella-Brugada,G
AU  - Campuzano,O
AU  - Gonzalez-Lopez,E
AU  - Mogensen,J
AU  - Kaski,JP
AU  - Arad,M
AU  - Brugada,R
AU  - Asselbergs,FW
AU  - Monserrat,L
AU  - Olivotto,I
AU  - Elliott,PM
AU  - Garcia-Pavia,P
DO  - 10.1016/j.jacc.2020.05.029
EP  - 197
PY  - 2020///
SN  - 0735-1097
SP  - 186
TI  - Clinical features and natural history of PRKAG2 variant cardiac glycogenosis
T2  - Journal of the American College of Cardiology
UR  - http://dx.doi.org/10.1016/j.jacc.2020.05.029
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000548692200010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://www.sciencedirect.com/science/article/pii/S0735109720353249?via%3Dihub
UR  - http://hdl.handle.net/10044/1/81575
VL  - 76
ER  -

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