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Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis
Journal of the American College of Cardiology ( IF 21.7 ) Pub Date : 2020-07-01 , DOI: 10.1016/j.jacc.2020.05.029 Angela Lopez-Sainz 1 , Fernando Dominguez 2 , Luis Rocha Lopes 3 , Juan Pablo Ochoa 4 , Roberto Barriales-Villa 5 , Vicente Climent 6 , Marijke Linschoten 7 , Coloma Tiron 8 , Chiara Chiriatti 9 , Nuno Marques 10 , Torsten B Rasmussen 11 , María Ángeles Espinosa 12 , Roy Beinart 13 , Giovanni Quarta 14 , Sergi Cesar 15 , Ella Field 16 , Jose M Garcia-Pinilla 17 , Zofia Bilinska 18 , Alison R Muir 19 , Angharad M Roberts 20 , Enrique Santas 21 , Esther Zorio 22 , Maria Luisa Peña-Peña 23 , Marina Navarro 24 , Adrian Fernandez 25 , Julian Palomino-Doza 26 , Olga Azevedo 27 , Massimiliano Lorenzini 3 , Maria I García-Álvarez 6 , Dina Bento 10 , Morten K Jensen 11 , Irene Méndez 12 , Laura Pezzoli 14 , Georgia Sarquella-Brugada 28 , Oscar Campuzano 29 , Esther Gonzalez-Lopez 1 , Jens Mogensen 30 , Juan Pablo Kaski 16 , Michael Arad 13 , Ramon Brugada 8 , Folkert W Asselbergs 31 , Lorenzo Monserrat 4 , Iacopo Olivotto 9 , Perry M Elliott 3 , Pablo Garcia-Pavia 32 ,
Journal of the American College of Cardiology ( IF 21.7 ) Pub Date : 2020-07-01 , DOI: 10.1016/j.jacc.2020.05.029 Angela Lopez-Sainz 1 , Fernando Dominguez 2 , Luis Rocha Lopes 3 , Juan Pablo Ochoa 4 , Roberto Barriales-Villa 5 , Vicente Climent 6 , Marijke Linschoten 7 , Coloma Tiron 8 , Chiara Chiriatti 9 , Nuno Marques 10 , Torsten B Rasmussen 11 , María Ángeles Espinosa 12 , Roy Beinart 13 , Giovanni Quarta 14 , Sergi Cesar 15 , Ella Field 16 , Jose M Garcia-Pinilla 17 , Zofia Bilinska 18 , Alison R Muir 19 , Angharad M Roberts 20 , Enrique Santas 21 , Esther Zorio 22 , Maria Luisa Peña-Peña 23 , Marina Navarro 24 , Adrian Fernandez 25 , Julian Palomino-Doza 26 , Olga Azevedo 27 , Massimiliano Lorenzini 3 , Maria I García-Álvarez 6 , Dina Bento 10 , Morten K Jensen 11 , Irene Méndez 12 , Laura Pezzoli 14 , Georgia Sarquella-Brugada 28 , Oscar Campuzano 29 , Esther Gonzalez-Lopez 1 , Jens Mogensen 30 , Juan Pablo Kaski 16 , Michael Arad 13 , Ramon Brugada 8 , Folkert W Asselbergs 31 , Lorenzo Monserrat 4 , Iacopo Olivotto 9 , Perry M Elliott 3 , Pablo Garcia-Pavia 32 ,
Affiliation
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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.
中文翻译：
PRKAG2 变异型心肌糖原沉积症的临床特征和自然病程
背景 PRKAG2 基因变异导致以心肌病、传导疾病和心室预激为特征的综合征。迄今为止仅报告了少量病例，对该病的自然病程知之甚少。目的 本研究的目的是描述大型多中心欧洲队列中 PRKAG2 变异的表型和自然史。方法 对从 27 个中心招募的 90 名 PRKAG2 变异受试者（53% 男性；中位年龄 33 岁；四分位间距 [IQR]：15 至 50 岁）的临床、心电图和超声心动图数据进行回顾性研究。结果 在第一次评估中，93% 的患者处于纽约心脏协会功能 I 级或 II 级。最大左心室壁厚为 18 ± 8 mm，左心室射血分数为 61 ± 12%。60 名受试者 (67%) 在基线时存在左心室肥大 (LVH)。30 名患者 (33%) 有心室预激或接受过旁路消融；17 名 (19%) 有心脏起搏器（植入时的中位年龄 36 岁；IQR：27 至 46 岁），16 名 (18%) 有房颤（中位年龄 43 岁；IQR：31 至 54 岁）。在中位随访 6 年（IQR：2.3 至 13.9 年）后，71% 的受试者有 LVH，29% 有 AF，21% 需要从头起搏器（植入时的中位年龄为 37 岁；IQR：29 至 48年），14% 需要因心力衰竭入院，8% 经历心源性猝死或同等情况，4% 需要心脏移植，13% 死亡。结论 PRKAG2 综合征是一种进行性心肌病，其特点是房颤、传导疾病、晚期心力衰竭的发生率高，和危及生命的心律失常。预激和严重 LVH 的典型特征并不统一存在，对于发生心房颤动或在年轻时需要永久性起搏器的 LVH 患者，应考虑诊断。
更新日期：2020-07-01
中文翻译：
PRKAG2 变异型心肌糖原沉积症的临床特征和自然病程
背景 PRKAG2 基因变异导致以心肌病、传导疾病和心室预激为特征的综合征。迄今为止仅报告了少量病例，对该病的自然病程知之甚少。目的 本研究的目的是描述大型多中心欧洲队列中 PRKAG2 变异的表型和自然史。方法 对从 27 个中心招募的 90 名 PRKAG2 变异受试者（53% 男性；中位年龄 33 岁；四分位间距 [IQR]：15 至 50 岁）的临床、心电图和超声心动图数据进行回顾性研究。结果 在第一次评估中，93% 的患者处于纽约心脏协会功能 I 级或 II 级。最大左心室壁厚为 18 ± 8 mm，左心室射血分数为 61 ± 12%。60 名受试者 (67%) 在基线时存在左心室肥大 (LVH)。30 名患者 (33%) 有心室预激或接受过旁路消融；17 名 (19%) 有心脏起搏器（植入时的中位年龄 36 岁；IQR：27 至 46 岁），16 名 (18%) 有房颤（中位年龄 43 岁；IQR：31 至 54 岁）。在中位随访 6 年（IQR：2.3 至 13.9 年）后，71% 的受试者有 LVH，29% 有 AF，21% 需要从头起搏器（植入时的中位年龄为 37 岁；IQR：29 至 48年），14% 需要因心力衰竭入院，8% 经历心源性猝死或同等情况，4% 需要心脏移植，13% 死亡。结论 PRKAG2 综合征是一种进行性心肌病，其特点是房颤、传导疾病、晚期心力衰竭的发生率高，和危及生命的心律失常。预激和严重 LVH 的典型特征并不统一存在，对于发生心房颤动或在年轻时需要永久性起搏器的 LVH 患者，应考虑诊断。
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