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Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

Fecha de publicación:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • 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, MA
  • Beinart, R
  • Quarta, G
  • Cesar, S
  • Field, E
  • Garcia-Pinilla, JM
  • Bilinska, Z
  • Muir, AR
  • Roberts, AM
  • Santas, E
  • Pena-Pena, ML
  • Navarro, M
  • Fernandez, A
  • Palomino-Doza, J
  • Azevedo, O
  • Lorenzini, M
  • Garcia-Alvarez, MI
  • Bento, D
  • Jensen, MK
  • Mendez, 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
  • European Genetic Cardiomyopathies

Grupos

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. (c) 2020 the American College of Cardiology Foundation. Published by Elsevier. All rights reserved.

Datos de la publicación

ISSN/ISSNe:
0735-1097, 1558-3597

JACC-Journal of the American College of Cardiology  ELSEVIER SCIENCE INC

Tipo:
Article
Páginas:
186-197
PubMed:
32646569
Enlace a otro recurso:
www.scopus.com
Factor de Impacto:
10,315 SCImago ℠
Cuartil:
Q1 SCImago ℠

Citas Recibidas en Web of Science: 74

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Keywords

  • glycogen-storage disease; heart failure; hypertrophic cardiomyopathy; left ventricular hypertrophy; pacemaker; pre-excitation; PRKAG2; sudden cardiac death

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