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Clinical features and natural history of PRKAG2 Variant Cardiac Glycogenosis

2020-07Journal article Restricted access
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dc.contributor.authorLopez-Sainz, Angela
dc.contributor.authorDominguez, Fernando
dc.contributor.authorRocha Lopes, Luis
dc.contributor.authorPablo Ochoa, Juan
dc.contributor.authorBarriales-Villa, Roberto
dc.contributor.authorCliment, Vicente
dc.contributor.authorLinschoten, Marijke
dc.contributor.authorTiron, Coloma
dc.contributor.authorChiriatti, Chiara
dc.contributor.authorMarques, Nuno
dc.contributor.authorRasmussen, Torsten B.
dc.contributor.authorAngeles Espinosa, Maria
dc.contributor.authorBeinart, Roy
dc.contributor.authorQuarta, Giovanni
dc.contributor.authorCesar, Sergi
dc.contributor.authorField, Ella
dc.contributor.authorGarcia-Pinilla, Jose M.
dc.contributor.authorBilinska, Zofia
dc.contributor.authorMuir, Alison R.
dc.contributor.authorRoberts, Angharad M.
dc.contributor.authorSantas, Enrique
dc.contributor.authorZorio, Esther
dc.contributor.authorLuisa Pena-Pena, Maria
dc.contributor.authorNavarro, Marina
dc.contributor.authorFernandez, Adrian
dc.contributor.authorPalomino-Doza, Julian
dc.contributor.authorAzevedo, Olga
dc.contributor.authorLorenzini, Massimiliano
dc.contributor.authorGarcia-Alvarez, Maria I.
dc.contributor.authorBento, Dina
dc.contributor.authorJensen, Morten K.
dc.contributor.authorMendez, Irene
dc.contributor.authorPezzoli, Laura
dc.contributor.authorSarquella-Brugada, Georgia
dc.contributor.authorCampuzano, Oscar
dc.contributor.authorGonzalez-Lopez, Esther
dc.contributor.authorMogensen, Jens
dc.contributor.authorPablo Kaski, Juan
dc.contributor.authorArad, Michael
dc.contributor.authorBrugada, Ramon
dc.contributor.authorAsselbergs, Folkert W.
dc.contributor.authorMonserrat, Lorenzo
dc.contributor.authorOlivotto, Iacopo
dc.contributor.authorElliott, Perry M.
dc.contributor.authorGarcia-Pavia, Pablo
dc.date.accessioned2021-06-24T11:35:26Z
dc.date.available2021-06-24T11:35:26Z
dc.date.issued2020-07
dc.description.abstractBACKGROUND 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. (c) 2020 the American College of Cardiology Foundation. Published by Elsevier. All rights reserved.
dc.description.sponsorshipInstituto de Salud Carlos IIIInstituto de Salud Carlos IIIEuropean Commission [PI17/01941, AC16/0014, PI17/01690, PI18/01582, PT17/0015/0043]
dc.description.sponsorshipERA-CVD Joint Transnational Call 2016 (GENPROVIC)
dc.description.sponsorshipDETECTIN-HF project (ERA-CVD framework)
dc.description.sponsorshipWellcome TrustWellcome TrustEuropean Commission [107469/Z/15/, HICF-R6-373]
dc.description.sponsorshipNational Institute for Health Research (NIHR) Royal Brompton Cardiovascular Biomedical Research Unit
dc.description.sponsorshipNIHR Imperial Biomedical Research Centre
dc.description.sponsorshipDepartment of Health, United Kingdom [HICF-R6-373]
dc.description.sponsorshipBritish Heart FoundationBritish Heart Foundation [SP/10/10/28431]
dc.description.sponsorshipObra Social La Caixa FoundationLa Caixa Foundation [100010434]
dc.description.sponsorshipFundacio Privada Daniel Bravo Andreu
dc.description.sponsorshipInstituto de Salud Carlos III - Plan Estatal de I.D.I. 2013-2016, European Regional Development Fund ("A Way of Making Europe")
dc.description.sponsorshipSpanish Ministry of Economy and Competitiveness - Plan Estatal de I.D.I. 2013-2016, European Regional Development Fund ("A Way of Making Europe")
dc.description.sponsorshipMedical Research Council Clinical Academic Research Partnership Award
dc.description.sponsorshipUCL Hospitals NIHR Biomedical Research Centre
dc.description.sponsorshipFondazione per la Ricerca Ospedale Maggiore
dc.description.sponsorshipNIHR Great Ormond Street Hospital Biomedical Research Centre
dc.description.versioninfo:eu-repo/semantics/publishedVersion
dc.identifier.doi10.1016/j.jacc.2020.05.029
dc.identifier.issn0735-1097
dc.identifier.urihttp://hdl.handle.net/10400.1/16436
dc.language.isoeng
dc.peerreviewedyes
dc.publisherElsevier
dc.subjectGlycogen-storage disease
dc.subjectHeart failure
dc.subjectHypertrophic cardiomyopathy
dc.subjectLeft ventricular hypertrophy
dc.subjectPacemaker
dc.subjectPre-excitation
dc.subjectPRKAG2
dc.subjectSudden cardiac death
dc.subject.otherCardiovascular System & Cardiology
dc.titleClinical features and natural history of PRKAG2 Variant Cardiac Glycogenosis
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage197
oaire.citation.issue2
oaire.citation.startPage186
oaire.citation.titleJournal of The American College of Cardiology
oaire.citation.volume76
person.familyNameBento
person.givenNameDina
person.identifier.orcid0000-0001-6383-7228
rcaap.rightsrestrictedAccess
rcaap.typearticle
relation.isAuthorOfPublication7f5dd19b-baed-4cfe-807f-e8bb2267cf74
relation.isAuthorOfPublication.latestForDiscovery7f5dd19b-baed-4cfe-807f-e8bb2267cf74

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